Sean V. Tavtigian, PhD

Research Interests

  • Cancer Susceptibility Genes
  • Evaluation of Variants of Uncertain Significance
  • Breast Cancer
  • Ovarian Cancer
  • Colorectal Cancer Genetics


Lab Website


  • English
  • French

Academic Information

  • Departments: Oncological Sciences - Professor
  • Cancer Center Programs: Cancer Control & Population Sciences

Academic Office Information

  • 801-587-4258
  • Huntsman Cancer Institute
    Huntsman Cancer Institute
    2000 Circle of Hope
    Salt Lake City, UT 84112

Academic Bio

Sean V. Tavtigian, PhD, is a professor in the Department of Oncological Sciences at the University of Utah and a co-leader of the Huntsman Cancer Institute's Cancer Control and Population Sciences Program.

In 1984, he earned a Bachelor's degree from Pomona College (Claremont, CA) where he was a joint-major in Biology and Chemistry.

After spending one year in medical school at UC San Francisco, he took a leave of absence and moved to graduate school.

He then earned a PhD from the California Institute of Technology (Caltech, Pasadena, CA) in Molecular Biology and Biochemistry. His PhD thesis was on the transcriptional regulatory capacity of c-Myc.

After graduation, Dr Tavtigian took a temporary postdoc position at Myriad Genetics (Salt Lake City, UT) while he was waiting for a fellowship that would have funded an academic postdoc at Harvard to activate. However, before that fellowship actually activated, Dr Tavtigian was offered a Senior Scientist position at Myriad. In the end, a planned 6-month postdoc in Cancer Genetics became a 9-year stay. During his time at Myriad, Dr Tavtigian contributed to the identification and/or complete cloning o key cancer susceptibility genes BRCA1, BRCA2, and PTEN.

In 2002, Dr Tavtigian moved from Myriad to the International Agency for Research on Cancer (IARC, Lyon, France), which is the cancer research arm of the World Health Organization. There, he contributed to development of methods for clinical classification of Variants of Uncertain Significance (VUS) in cancer susceptibility genes and development of guidelines for classification of VUS in cancer susceptibility genes.

In 2009, Dr Tavtigian moved from IARC to the University of Utah Department of Oncological Sciences. Here, continuing work started towards the end of his time at IARC, he has calibrated computational methods for evaluating VUS in cancer susceptibility genes, most notably BRCA1, BRCA2, MLH1, and MSH2, that are applicable to clinical VUS classification. Using these methods, he has also elucidated the role of rare missense substitutions in moderate-risk cancer susceptibility genes such as ATM and CHEK2. He has also extended quantitative Bayesian methods of VUS classification to cover all high-risk susceptibility genes for simple Mendelian diseases.

Research Statement

Sean V. Tavtigian, PhD, is a professor in the Department of Oncological Sciences at the University of Utah and a Huntsman Cancer Institute investigator. He is a co-leader of the Cancer Control and Population Sciences Program. Research in Tavtigian's lab concentrates on two areas of genetic susceptibility to cancer. The first is identification and characterization of intermediate-risk and high-risk cancer susceptibility genes. The second is analysis of unclassified variants that are observed during the clinical testing of established high-risk cancer susceptibility genes.

Historically, most of the known high-risk cancer susceptibility genes were found either by linkage analysis/ positional cloning or by mutation screening of established high-risk susceptibility genes' biochemical pathway "nearest-neighbors". While the linkage analysis/ positional cloning approach is nearly obsolete, next-generation sequencing enables a number of new strategies for gene identification. One of these is whole-exome mutation screening in pedigrees as a method to identify relatively high-risk susceptibility genes. Another is biochemical pathway-based mutation screening in a case-control format as a method to identify intermediate-risk susceptibility genes. We are pursuing breast cancer, colorectal cancer, and head & neck cancer genetics projects in these areas.

Clinical mutation screening of high-risk cancer susceptibility genes such as BRCA1, BRCA2, MLH1, and MSH2 will often find clearly pathogenic mutations, providing very useful information for the clinical management of high-risk patients and their close relatives. However, about 10% of patients who undergo mutation screening are found to carry an unclassified sequence variant (UV) or variant of uncertain significance (VUS). Observations of UVs are problematic for clinical mutation screening services, for clinical cancer genetics, and for the patients. We have developed a bioinformatics method, called the "integrated evaluation", for analysis and eventual classification of UVs. Currently, the method is applicable to UVs in the breast cancer susceptibility genes BRCA1 and BRCA2 as well as the colorectal cancer genes MLH1 and MSH2. We are working to improve the method, to extend it to other susceptibility genes, and to expand databases that disseminate classification results to clinical cancer geneticists throughout the world. We are also investing in development of high throughput functional assays for evaluation of UVs in BRCA1 and eventually other cancer susceptibility genes.

Tavtigian earned a PhD at the California Institute of Technology, Pasadena.

Education History

Type School Degree
Doctoral Training California Institute of Technology
Molecular Biology & Biochemistry
Undergraduate Pomona College
Biology & Chemistry, joint major

Selected Publications

Journal Article

  1. Fortuno C, James PA, Young EL, Feng B, Olivier M, Pesaran T, Tavtigian SV, Spurdle AB (2018 Aug). Improved, ACMG-compliant, in silico prediction of pathogenicity for missense substitutions encoded by TP53 variants. Hum Mutat, 39(8), 1061-1069.
  2. Young EL, Thompson BA, Neklason DW, Firpo MA, Werner T, Bell R, Berger J, Fraser A, Gammon A, Koptiuch C, Kohlmann WK, Neumayer L, Goldgar DE, Mulvihill SJ, Cannon-Albright LA, Tavtigian SV (2018 Jun 27). Pancreatic cancer as a sentinel for hereditary cancer predisposition. BMC Cancer, 18(1), 697.
  3. Samadder NJ, Kuwada SK, Boucher KM, Byrne K, Kanth P, Samowitz W, Jones D, Tavtigian SV, Westover M, Berry T, Jasperson K, Pappas L, Smith L, Sample D, Burt RW, Neklason DW (2018 Feb 8). Association of Sulindac and Erlotinib vs Placebo With Colorectal Neoplasia in Familial Adenomatous Polyposis: Secondary Analysis of a Randomized Clinical Trial.LID - 10.1001/jamaoncol.2017.5431 [doi]. (Epub ahead of print) JAMA Oncol.
  4. Tavtigian SV, Greenblatt MS, Harrison SM, Nussbaum RL, Prabhu SA, Boucher KM, Biesecker LG (2018 Jan 4). Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.LID - 10.1038/gim.2017.210 [doi]. (Epub ahead of print) Genet Med.
  5. Li J, Li H, Makunin I, Thompson BA, Tao K, Young EL, Lopez J, Camp NJ, Tavtigian SV, John EM, Andrulis IL, Khanna KK, Goldgar D, Chenevix-Trench G (2017 Dec). Panel sequencing of 264 candidate susceptibility genes and segregation analysis in a cohort of non-BRCA1, non-BRCA2 breast cancer families. Breast Cancer Res Treat, 166(3), 937-949.
  6. Southey MC, Goldgar DE, Winqvist R, Pylkas K, Couch F, Tischkowitz M, Foulkes WD, Dennis J, Michailidou K, van Rensburg EJ, Heikkinen T, Nevanlinna H, Hopper JL, Dork T, Claes KB, Reis-Filho J, Teo ZL, Radice P, Catucci I, Peterlongo P, Tsimiklis H, Odefrey FA, Dowty JG, Schmidt MK, Broeks A, Hogervorst FB, Verhoef S, Carpenter J, Clarke C, Scott RJ, Fasching PA, Haeberle L, Ekici AB, Beckmann MW, Peto J, Dos-Santos-Silva I, Fletcher O, Johnson N, Bolla MK, Sawyer EJ, Tomlinson I, Kerin MJ, Miller N, Marme F, Burwinkel B, Yang R, Guenel P, Truong T, Menegaux F, Sanchez M, Bojesen S, Nielsen SF, Flyger H, Benitez J, Zamora MP, Perez JI, Menendez P, Anton-Culver H, Neuhausen S, Ziogas A, Clarke CA, Brenner H, Arndt V, Stegmaier C, Brauch H, Bruning T, Ko YD, Muranen TA, Aittomaki K, Blomqvist C, Bogdanova NV, Antonenkova NN, Lindblom A, Margolin S, Mannermaa A, Kataja V, Kosma VM, Hartikainen JM, Spurdle AB, Investigators K, Wauters E, Smeets D, Beuselinck B, Floris G, Chang-Claude J, Rudolph A, Seibold P, Flesch-Janys D, Olson JE, Vachon C, Pankratz VS, McLean C, Haiman CA, Henderson BE, Schumacher F, Le Marchand L, Kristensen V, Alnaes GG, Zheng W, Hunter DJ, Lindstrom S, Hankinson SE, Kraft P, Andrulis I, Knight JA, Glendon G, Mulligan AM, Jukkola-Vuorinen A, Grip M, Kauppila S, Devilee P, Tollenaar RA, Seynaeve C, Hollestelle A, Garcia-Closas M, Figueroa J, Chanock SJ, Lissowska J, Czene K, Darabi H, Eriksson M, Eccles DM, Rafiq S, Tapper WJ, Gerty SM, Hooning MJ, Martens JW, Collee JM, Tilanus-Linthorst M, Hall P, Li J, Brand JS, Humphreys K, Cox A, Reed MW, Luccarini C, Baynes C, Dunning AM, Hamann U, Torres D, Ulmer HU, Rudiger T, Jakubowska A, Lubinski J, Jaworska K, Durda K, Slager S, Toland AE, Ambrosone CB, Yannoukakos D, Swerdlow A, Ashworth A, Orr N, Jones M, Gonzalez-Neira A, Pita G, Alonso MR, Alvarez N, Herrero D, Tessier DC, Vincent D, Bacot F, Simard J, Dumont M, Soucy P, Eeles R, Muir K, Wiklund F, Gronberg H, Schleutker J, Nordestgaard BG, Weischer M, Travis RC, Neal D, Donovan JL, Hamdy FC, Khaw KT, Stanford JL, Blot WJ, Thibodeau S, Schaid DJ, Kelley JL, Maier C, Kibel AS, Cybulski C, Cannon-Albright L, Butterbach K, Park J, Kaneva R, Batra J, Teixeira MR, Kote-Jarai Z, Olama AA, Benlloch S, Renner SP, Hartmann A, Hein A, Ruebner M, Lambrechts D, Van Nieuwenhuysen E, Vergote I, Lambretchs S, Doherty JA, Rossing MA, Nickels S, Eilber U, Wang-Gohrke S, Odunsi K, Sucheston-Campbell LE, Friel G, Lurie G, Killeen JL, Wilkens LR, Goodman MT, Runnebaum I, Hillemanns PA, Pelttari LM, Butzow R, Modugno F, Edwards RP, Ness RB, Moysich KB, du Bois A, Heitz F, Harter P, Kommoss S, Karlan BY, Walsh C, Lester J, Jensen A, Kjaer SK, Hogdall E, Peissel B, Bonanni B, Bernard L, Goode EL, Fridley BL, Vierkant RA, Cunningham JM, Larson MC, Fogarty ZC, Kalli KR, Liang D, Lu KH, Hildebrandt MA, Wu X, Levine DA, Dao F, Bisogna M, Berchuck A, Iversen ES, Marks JR, Akushevich L, Cramer DW, Schildkraut J, Terry KL, Poole EM, Stampfer M, Tworoger SS, Bandera EV, Orlow I, Olson SH, Bjorge L, Salvesen HB, van Altena AM, Aben KK, Kiemeney LA, Massuger LF, Pejovic T, Bean Y, Brooks-Wilson A, Kelemen LE, Cook LS, Le ND, Gorski B, Gronwald J, Menkiszak J, Hogdall CK, Lundvall L, Nedergaard L, Engelholm SA, Dicks E, Tyrer J, Campbell I, McNeish I, Paul J, Siddiqui N, Glasspool R, Whittemore AS, Rothstein JH, McGuire V, Sieh W, Cai H, Shu XO, Teten RT, Sutphen R, McLaughlin JR, Narod SA, Phelan CM, Monteiro AN, Fenstermacher D, Lin HY, Permuth JB, Sellers TA, Chen YA, Tsai YY, Chen Z, Gentry-Maharaj A, Gayther SA, Ramus SJ, Menon U, Wu AH, Pearce CL, Van Den Berg D, Pike MC, Dansonka-Mieszkowska A, Plisiecka-Halasa J, Moes-Sosnowska J, Kupryjanczyk J, Pharoah PD, Song H, Winship I, Chenevix-Trench G, Giles GG, Tavtigian SV, Easton DF, Milne RL (2016 Dec). PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS. J Med Genet, 53(12), 800-811.
  7. Vallee MP, Di Sera TL, Nix DA, Paquette AM, Parsons MT, Bell R, Hoffman A, Hogervorst FB, Goldgar DE, Spurdle AB, Tavtigian SV (2016 Jul). Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants. Hum Mutat, 37(7), 627-39.
  8. de la Hoya M, Soukarieh O, Lopez-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamarina M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB (2016 Jun 01). Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms. Hum Mol Genet, 25(11), 2256-2268.
  9. Young EL, Feng BJ, Stark AW, Damiola F, Durand G, Forey N, Francy TC, Gammon A, Kohlmann WK, Kaphingst KA, McKay-Chopin S, Nguyen-Dumont T, Oliver J, Paquette AM, Pertesi M, Robinot N, Rosenthal JS, Vallee M, Voegele C, Hopper JL, Southey MC, Andrulis IL, John EM, Hashibe M, Gertz J, Le Calvez-Kelm F, Lesueur F, Goldgar DE, Tavtigian SV (2016 Jun). Multigene testing of moderate-risk genes: be mindful of the missense. J Med Genet, 53(6), 366-76.
  10. Palmero EI, Alemar B, Schuler-Faccini L, Hainaut P, Moreira-Filho CA, Ewald IP, Santos PK, Ribeiro PL, Oliveira CB, Kelm Fle C, Tavtigian S, Cossio SL, Giugliani R, Caleffi M, Ashton-Prolla P (2016 May 24). Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. Genet Mol Biol, 39(2), 210-22.
  11. Easton DF, Lesueur F, Decker B, Michailidou K, Li J, Allen J, Luccarini C, Pooley KA, Shah M, Bolla MK, Wang Q, Dennis J, Ahmad J, Thompson ER, Damiola F, Pertesi M, Voegele C, Mebirouk N, Robinot N, Durand G, Forey N, Luben RN, Ahmed S, Aittomaki K, Anton-Culver H, Arndt V, Baynes C, Beckman MW, Benitez J, Van Den Berg D, Blot WJ, Bogdanova NV, Bojesen SE, Brenner H, Chang-Claude J, Chia KS, Choi JY, Conroy DM, Cox A, Cross SS, Czene K, Darabi H, Devilee P, Eriksson M, Fasching PA, Figueroa J, Flyger H, Fostira F, Garcia-Closas M, Giles GG, Glendon G, Gonzalez-Neira A, Guenel P, Haiman CA, Hall P, Hart SN, Hartman M, Hooning MJ, Hsiung CN, Ito H, Jakubowska A, James PA, John EM, Johnson N, Jones M, Kabisch M, Kang D, Kosma VM, Kristensen V, Lambrechts D, Li N, Lindblom A, Long J, Lophatananon A, Lubinski J, Mannermaa A, Manoukian S, Margolin S, Matsuo K, Meindl A, Mitchell G, Muir K, Nevelsteen I, van den Ouweland A, Peterlongo P, Phuah SY, Pylkas K, Rowley SM, Sangrajrang S, Schmutzler RK, Shen CY, Shu XO, Southey MC, Surowy H, Swerdlow A, Teo SH, Tollenaar RA, Tomlinson I, Torres D, Truong T, Vachon C, Verhoef S, Wong-Brown M, Zheng W, Zheng Y, Nevanlinna H, Scott RJ, Andrulis IL, Wu AH, Hopper JL, Couch FJ, Winqvist R, Burwinkel B, Sawyer EJ, Schmidt MK, Rudolph A, Dork T, Brauch H, Hamann U, Neuhausen SL, Milne RL, Fletcher O, Pharoah PD, Campbell IG, Dunning AM, Le Calvez-Kelm F, Goldgar DE, Tavtigian SV, Chenevix-Trench G (2016 May). No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing. J Med Genet, 53(5), 298-309.
  12. Jensen JD, Holton AE, Krakow M, Weaver J, Donovan E, Tavtigian S (2016 Apr). Colorectal cancer prevention and intentions to use low-dose aspirin: A survey of 1000 U.S. adults aged 40-65. Cancer Epidemiol, 41, 99-105.
  13. Samadder NJ, Neklason DW, Boucher KM, Byrne KR, Kanth P, Samowitz W, Jones D, Tavtigian SV, Done MW, Berry T, Jasperson K, Pappas L, Smith L, Sample D, Davis R, Topham MK, Lynch P, Strait E, McKinnon W, Burt RW, Kuwada SK (2016 Mar 22-29). Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial. JAMA, 315(12), 1266-75.
  14. Renault AL, Lesueur F, Coulombe Y, Gobeil S, Soucy P, Hamdi Y, Desjardins S, Le Calvez-Kelm F, Vallee M, Voegele C, Hopper JL, Andrulis IL, Southey MC, John EM, Masson JY, Tavtigian SV, Simard J (2016). ABRAXAS (FAM175A) and Breast Cancer Susceptibility: No Evidence of Association in the Breast Cancer Family Registry. PLoS ONE, 11(6), e0156820.
  15. Easton DF, Pharoah PD, Antoniou AC, Tischkowitz M, Tavtigian SV, Nathanson KL, Devilee P, Meindl A, Couch FJ, Southey M, Goldgar DE, Evans DG, Chenevix-Trench G, Rahman N, Robson M, Domchek SM, Foulkes WD (2015 Jun 04). Gene-panel sequencing and the prediction of breast-cancer risk. N Engl J Med, 372(23), 2243-57.
  16. Jhuraney A, Velkova A, Johnson RC, Kessing B, Carvalho RS, Whiley P, Spurdle AB, Vreeswijk MP, Caputo SM, Millot GA, Vega A, Coquelle N, Galli A, Eccles D, Blok MJ, Pal T, van der Luijt RB, Santamarina Pena M, Neuhausen SL, Donenberg T, Machackova E, Thomas S, Vallee M, Couch FJ, Tavtigian SV, Glover JN, Carvalho MA, Brody LC, Sharan SK, Monteiro AN (2015 Apr). BRCA1 Circos: a visualisation resource for functional analysis of missense variants. J Med Genet, 52(4), 224-30.
  17. Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya, Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, Li H, Garg V, Moore B, Hood L, Galas DJ, Srivastava D, Reese MG, Jorde LB, Yandell M, Huff CD (2014 Jul). A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data. Nat Biotechnol, 32(7), 663-9.
  18. Park DJ, Tao K, Le Calvez-Kelm F, Nguyen-Dumont T, Robinot N, Hammet F, Odefrey F, Tsimiklis H, Teo ZL, Thingholm LB, Young EL, Voegele C, Lonie A, Pope BJ, Roane TC, Bell R, Hu H, Shankaracharya, Huff CD, Ellis J, Li J, Makunin IV, John EM, Andrulis IL, Terry MB, Daly M, Buys SS, Snyder C, Lynch HT, Devilee P, Giles GG, Hopper JL, Feng BJ, Lesueur F, Tavtigian SV, Southey MC, Goldgar DE (2014 Jul). Rare mutations in RINT1 predispose carriers to breast and Lynch syndrome-spectrum cancers. Cancer Discov, 4(7), 804-15.
  19. Damiola F, Pertesi M, Oliver J, Le Calvez-Kelm F, Voegele C, Young EL, Robinot N, Forey N, Durand G, Vallee MP, Tao K, Roane TC, Williams GJ, Hopper JL, Southey MC, Andrulis IL, John EM, Goldgar DE, Lesueur F, Tavtigian SV (2014 Jun 3). Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study. Breast Cancer Res, 16(3), R58.
  20. Tavtigian SV, Chenevix-Trench G (2014 Apr). Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. Biomark Med, 8(4), 589-603.
  21. Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capella G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M (2014 Feb). Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nat Genet, 46(2), 107-15.
  22. Southey MC, Park DJ, Nguyen-Dumont T, Campbell I, Thompson E, Trainer AH, Chenevix-Trench G, Simard J, Dumont M, Soucy P, Thomassen M, Jonson L, Pedersen IS, Hansen TV, Nevanlinna H, Khan S, Sinilnikova O, Mazoyer S, Lesueur F, Damiola F, Schmutzler R, Meindl A, Hahnen E, Dufault MR, Chris Chan T, Kwong A, Barkardottir R, Radice P, Peterlongo P, Devilee P, Hilbers F, Benitez J, Kvist A, Torngren T, Easton D, Hunter D, Lindstrom S, Kraft P, Zheng W, Gao YT, Long J, Ramus S, Feng BJ, Weitzel JN, Nathanson K, Offit K, Joseph V, Robson M, Schrader K, Wang SM, Kim YC, Lynch H, Snyder C, Tavtigian S, Neuhausen S, Couch FJ, Goldgar DE (2013 Jun 21). COMPLEXO: identifying the missing heritability of breast cancer via next generation collaboration. Breast Cancer Res, 15(3), 402.
  23. Thompson BA, Goldgar DE, Paterson C, Clendenning M, Walters R, Arnold S, Parsons MT, Michael D W, Gallinger S, Haile RW, Hopper JL, Jenkins MA, Lemarchand L, Lindor NM, Newcomb PA, Thibodeau SN, Young JP, Buchanan DD, Tavtigian SV, Spurdle AB (2013 Jan). A Multifactorial Likelihood Model for MMR Gene Variant Classification Incorporating Probabilities Based on Sequence Bioinformatics and Tumor Characteristics: A Report from the Colon Cancer Family Registry. Hum Mutat, 34(1), 200-9.
  24. Pope BJ, Nguyen-Dumont T, Odefrey F, Hammet F, Bell R, Tao K, Tavtigian SV, Goldgar DE, Lonie A, Southey MC, Park DJ (2013). FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets. BMC Bioinformatics, 14, 65.
  25. Thompson BA, Greenblatt MS, Vallee MP, Herkert JC, Tessereau C, Young EL, Adzhubey IA, Li B, Bell R, Feng B, Mooney SD, Radivojac P, Sunyaev SR, Frebourg T, Hofstra RM, Sijmons RH, Boucher K, Thomas A, Goldgar DE, Spurdle AB, Tavtigian SV (2013 Jan). Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. Hum Mutat, 34(1), 255-65.
  26. Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N (2012 Dec). Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future. Hum Mutat, 33(12), 1617-25.
  27. Ahmad J, Le Calvez-Kelm F, Daud S, Voegele C, Vallee M, Ahmad A, Kakar N, McKay JD, Gaborieau V, Leone M, Sinilnikova O, Sangrajrang S, Tavtigian SV, Lesueur F (2012 Dec). Detection of BRCA1/2 mutations in breast cancer patients from Thailand and Pakistan. Clin Genet, 82(6), 594-8.
  28. Park DJ, Lesueur F, Nguyen-Dumont T, Pertesi M, Odefrey F, Hammet F, Neuhausen SL, John EM, Andrulis IL, Terry MB, Daly M, Buys S, Le Calvez-Kelm F, Lonie A, Pope BJ, Tsimiklis H, Voegele C, Hilbers FM, Hoogerbrugge N, Barroso A, Osorio A, Giles GG, Devilee P, Benitez J, Hopper JL, Tavtigian SV, Goldgar DE, Southey MC (2012 Apr 6). Rare mutations in XRCC2 increase the risk of breast cancer. Am J Hum Genet, 90(4), 734-9.
  29. Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallee MP, Tavtigian SV, Concannon P, Foulkes WD, Bernstein L, Bernstein JL, Begg CB (2012 Apr). Rare germline mutations in PALB2 and breast cancer risk: a population-based study. Hum Mutat, 33(4), 674-80.
  30. Vallee MP, Francy TC, Judkins MK, Babikyan D, Lesueur F, Gammon A, Goldgar DE, Couch FJ, Tavtigian SV (2012 Jan). Classification of missense substitutions in the BRCA genes: A database dedicated to Ex-UVs. Hum Mutat, 33(1), 22-8.
  31. Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE (2012 Jan). ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes. Hum Mutat, 33(1), 2-7.
  32. Le Calvez-Kelm F, Oliver J, Damiola F, Forey N, Robinot N, Durand G, Voegele C, Vallee MP, Byrnes G, Registry BC, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV, Lesueur F (2012). RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study. PLoS ONE, 7(12), e52374.
  33. Whiley PJ, Guidugli L, Walker LC, Healey S, Thompson BA, Lakhani SR, Da Silva LM, Tavtigian SV, Goldgar DE, Brown MA, Couch FJ, Spurdle AB (2011 Jun). Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary. Hum Mutat, 32(6), 678-87.
  34. Iversen ES Jr, Couch FJ, Goldgar DE, Tavtigian SV, Monteiro AN (2011 Jun). A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1. Cancer Epidemiol Biomarkers Prev, 20(6), 1078-88.
  35. Hernandez-Vargas H, Ouzounova M, Le Calvez-Kelm F, Lambert MP, McKay-Chopin S, Tavtigian SV, Puisieux A, Matar C, Herceg Z (2011 Apr). Methylome analysis reveals Jak-STAT pathway deregulation in putative breast cancer stem cells. Epigenetics, 6(4), 428-39.
  36. Tavtigian SV, Hashibe M, Thomas A (2011 Mar). Tests of association for rare variants: case control mutation screening. Nat Rev Genet, 12(3), 224.
  37. Le Calvez-Kelm F, Lesueur F, Damiola F, Vallee M, Voegele C, Babikyan D, Durand G, Forey N, McKay-Chopin S, Robinot N, Nguyen-Dumont T, Thomas A, Byrnes GB, Breast Cancer Family Registry T, Hopper JL, Southey MC, Andrulis IL, John EM, Tavtigian SV (2011 Jan 18). Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry (CFR) case-control mutation screening study. Breast Cancer Res, 13(1), R6.
  38. Feng BJ, Tavtigian SV, Southey MC, Goldgar DE (2011). Design considerations for massively parallel sequencing studies of complex human disease. PLoS ONE, 6(8), e23221.
  39. Nguyen-Dumont T, Jordheim LP, Michelon J, Forey N, McKay-Chopin S, Sinilnikova O, Le Calvez-Kelm F, Southey MC, Tavtigian SV, Lesueur F (2011). Detecting differential allelic expression using high-resolution melting curve analysis: application to the breast cancer susceptibility gene CHEK2. BMC Med Genomics, 4, 39.
  40. Kohonen-Corish MR, Al-Aama JY, Auerbach AD, Axton M, Barash CI, Bernstein I, Beroud C, Burn J, Cunningham F, Cutting GR, den Dunnen JT, Greenblatt MS, Kaput J, Katz M, Lindblom A, Macrae F, Maglott D, Moslein G, Povey S, Ramesar R, Richards S, Seminara D, Sobrido MJ, Tavtigian S, Taylor G, Vihinen M, Winship I, Cotton RG (2010 Dec). How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010. Hum Mutat, 31(12), 1374-81.
  41. Dumontet C, Landi S, Reiman T, Perry T, Plesa A, Bellini I, Barale R, Pilarski LM, Troncy J, Tavtigian S, Gemignani F (2010 Aug). Genetic polymorphisms associated with outcome in multiple myeloma patients receiving high-dose melphalan. Bone Marrow Transplant, 45(8), 1316-24.
  42. Walker LC, Whiley PJ, Couch FJ, Farrugia DJ, Healey S, Eccles DM, Lin F, Butler SA, Goff SA, Thompson BA, Lakhani SR, Da Silva LM, Tavtigian SV, Goldgar DE, Brown MA, Spurdle AB (2010 Jun). Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity. Hum Mutat, 31(6), E1484-505.
  43. Carvalho LV, Pereira EM, Frappart L, Boniol M, Bernardo WM, Tarricone V, Tavtigian S, Southey MC (2010 May-Jun). Molecular characterization of breast cancer in young Brazilian women. Rev Assoc Med Bras, 56(3), 278-87.
  44. Velkova A, Carvalho MA, Johnson JO, Tavtigian SV, Monteiro AN (2010 Apr 19). Identification of filamin A as a BRCA1-interacting protein required for efficient DNA repair. Cell Cycle, 9(7).
  45. Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, Brugieres L, Vargas FR, Brentani RR, Ashton-Prolla P, Landi S, Tavtigian SV, Hainaut P, Achatz MI (2010 Feb). Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Hum Mutat, 31(2), 143-50.
  46. Hernandez-Vargas H, Lambert MP, Le Calvez-Kelm F, Gouysse G, McKay-Chopin S, Tavtigian SV, Scoazec JY, Herceg Z (2010). Hepatocellular carcinoma displays distinct DNA methylation signatures with potential as clinical predictors. PLoS ONE, 5(3), e9749.
  47. Campa D, McKay J, Sinilnikova O, Husing A, Vogel U, Hansen RD, Overvad K, Witt PM, Clavel-Chapelon F, Boutron-Ruault MC, Chajes V, Rohrmann S, Chang-Claude J, Boeing H, Fisher E, Trichopoulou A, Trichopoulos D, Palli D, Villarini A, Sacerdote C, Mattiello A, Tumino R, Peeters PH, van Gils CH, Bas Bueno-de-Mesquita H, Lund E, Chirlaque MD, Sala N, Suarez LR, Barricarte A, Dorronsoro M, Sanchez MJ, Lenner P, Hallmans G, Tsilidis K, Bingham S, Khaw KT, Gallo V, Norat T, Riboli E, Rinaldi S, Lenoir G, Tavtigian SV, Canzian F, Kaaks R (2009 Dec). Genetic variation in genes of the fatty acid synthesis pathway and breast cancer risk. Breast Cancer Res Treat, 118(3), 565-74.
  48. Tavtigian SV, Oefner PJ, Babikyan D, Hartmann A, Healey S, Le Calvez-Kelm F, Lesueur F, Byrnes GB, Chuang SC, Forey N, Feuchtinger C, Gioia L, Hall J, Hashibe M, Herte B, McKay-Chopin S, Thomas A, Vallee MP, Voegele C, Webb PM, Whiteman DC, Sangrajrang S, Hopper JL, Southey MC, Andrulis IL, John EM, Chenevix-Trench G (2009 Oct). Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet, 85(4), 427-46.
  49. Nguyen-Dumont T, Calvez-Kelm FL, Forey N, McKay-Chopin S, Garritano S, Gioia-Patricola L, De Silva D, Weigel R, Sangrajrang S, Lesueur F, Tavtigian SV (2009 Jun). Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis. Hum Mutat, 30(6), 884-90.
  50. Arnold S, Buchanan DD, Barker M, Jaskowski L, Walsh MD, Birney G, Woods MO, Hopper JL, Jenkins MA, Brown MA, Tavtigian SV, Goldgar DE, Young JP, Spurdle AB (2009 May). Classifying MLH1 and MSH2 variants using bioinformatic prediction, splicing assays, segregation, and tumor characteristics. Hum Mutat, 30(5), 757-70.
  51. Distelman-Menachem T, Shapira T, Laitman Y, Kaufman B, Barak F, Tavtigian S, Friedman E (2009). Analysis of BRCA1/BRCA2 genes' contribution to breast cancer susceptibility in high risk Jewish Ashkenazi women. Fam Cancer, 8(2), 127-33.
  52. Garritano S, Gemignani F, Voegele C, Nguyen-Dumont T, Le Calvez-Kelm F, De Silva D, Lesueur F, Landi S, Tavtigian SV (2009). Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus. BMC Genet, 10, 5.
  53. Jordheim LP, Nguyen-Dumont T, Thomas X, Dumontet C, Tavtigian SV (2008 Dec). Differential allelic expression in leukoblast from patients with acute myeloid leukemia suggests genetic regulation of CDA, DCK, NT5C2, NT5C3, and TP53. Drug Metab Dispos, 36(12), 2419-23.
  54. Cotton RG, Auerbach AD, Axton M, Barash CI, Berkovic SF, Brookes AJ, Burn J, Cutting G, den Dunnen JT, Flicek P, Freimer N, Greenblatt MS, Howard HJ, Katz M, Macrae FA, Maglott D, Moslein G, Povey S, Ramesar RS, Richards CS, Seminara D, Smith TD, Sobrido MJ, Solbakk JH, Tanzi RE, Tavtigian SV, Taylor GR, Utsunomiya J, Watson M (2008 Nov 7). GENETICS. The Human Variome Project. Science, 322(5903), 861-2.
  55. Plon SE, Eccles DM, Easton D, Foulkes WD, Genuardi M, Greenblatt MS, Hogervorst FB, Hoogerbrugge N, Spurdle AB, Tavtigian SV (2008 Nov). Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results. Hum Mutat, 29(11), 1282-91.
  56. Tavtigian SV, Greenblatt MS, Goldgar DE, Boffetta P (2008 Nov). Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group. Hum Mutat, 29(11), 1261-4.
  57. Tavtigian SV, Byrnes GB, Goldgar DE, Thomas A (2008 Nov). Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications. Hum Mutat, 29(11), 1342-54.
  58. Tavtigian SV, Greenblatt MS, Lesueur F, Byrnes GB (2008 Nov). In silico analysis of missense substitutions using sequence-alignment based methods. Hum Mutat, 29(11), 1327-36.
  59. Tischkowitz MD, Yilmaz A, Chen LQ, Karyadi DM, Novak D, Kirchhoff T, Hamel N, Tavtigian SV, Kolb S, Bismar TA, Aloyz R, Nelson PS, Hood L, Narod SA, White KA, Ostrander EA, Isaacs WB, Offit K, Cooney KA, Stanford JL, Foulkes WD (2008 Oct 18). Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. Cancer Lett, 270(1), 173-80.
  60. Tischkowitz M, Hamel N, Carvalho MA, Birrane G, Soni A, van Beers EH, Joosse SA, Wong N, Novak D, Quenneville LA, Grist SA, Nederlof PM, Goldgar DE, Tavtigian SV, Monteiro AN, Ladias JA, Foulkes WD (2008 Jul). Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach. Eur J Hum Genet, 16(7), 820-32.
  61. Farrugia DJ, Agarwal MK, Pankratz VS, Deffenbaugh AM, Pruss D, Frye C, Wadum L, Johnson K, Mentlick J, Tavtigian SV, Goldgar DE, Couch FJ (2008 May 1). Functional assays for classification of BRCA2 variants of uncertain significance. Cancer Res, 68(9), 3523-31.
  62. Hammet F, George J, Tesoriero AA, Jenkins MA, Schroen C, Smith L, Grabosch-Meehan A, Dite G, McCredie MR, Giles GG, Tavtigian SV, Hopper JL, Southey MC (2008 May). Is BRCA2 c.9079 G>A a predisposing variant for early onset breast cancer? Breast Cancer Res Treat, 109(1), 177-9.
  63. Spurdle AB, Lakhani SR, Healey S, Parry S, Da Silva LM, Brinkworth R, Hopper JL, Brown MA, Babikyan D, Chenevix-Trench G, Tavtigian SV, Goldgar DE (2008 Apr 1). Clinical classification of BRCA1 and BRCA2 DNA sequence variants: the value of cytokeratin profiles and evolutionary analysis--a report from the kConFab Investigators. J Clin Oncol, 26(10), 1657-63.
  64. Easton DF, Deffenbaugh AM, Pruss D, Frye C, Wenstrup RJ, Allen-Brady K, Tavtigian SV, Monteiro AN, Iversen ES, Couch FJ, Goldgar DE (2007 Nov). A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes. Am J Hum Genet, 81(5), 873-83.
  65. Voegele C, Tavtigian SV, de Silva D, Cuber S, Thomas A, Le Calvez-Kelm F (2007 Sep 15). A Laboratory Information Management System (LIMS) for a high throughput genetic platform aimed at candidate gene mutation screening. Bioinformatics, 23(18), 2504-6.
  66. Petitjean A, Mathe E, Kato S, Ishioka C, Tavtigian SV, Hainaut P, Olivier M (2007 Jun). Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database. Hum Mutat, 28(6), 622-9.
  67. Johnson N, Fletcher O, Palles C, Rudd M, Webb E, Sellick G, dos Santos Silva I, McCormack V, Gibson L, Fraser A, Leonard A, Gilham C, Tavtigian SV, Ashworth A, Houlston R, Peto J (2007 May 1). Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility. Hum Mol Genet, 16(9), 1051-7.
  68. Sinilnikova OM, McKay JD, Tavtigian SV, Canzian F, DeSilva D, Biessy C, Monnier S, Dossus L, Boillot C, Gioia L, Hughes DJ, Jensen MK, Overvad K, Tjonneland A, Olsen A, Clavel-Chapelon F, Chajes V, Joulin V, Linseisen J, Chang-Claude J, Boeing H, Dahm S, Trichopoulou A, Trichopoulos D, Koliva M, Khaw KT, Bingham S, Allen NE, Key T, Palli D, Panico S, Berrino F, Tumino R, Vineis P, Bueno-de-Mesquita HB, Peeters PH, van Gils CH, Lund E, Pera G, Quiros JR, Dorronsoro M, Martinez Garcia C, Tormo MJ, Ardanaz E, Hallmans G, Lenner P, Berglund G, Manjer J, Riboli E, Lenoir GM, Kaaks R (2007 Mar). Haplotype-based analysis of common variation in the acetyl-coA carboxylase alpha gene and breast cancer risk: a case-control study nested within the European Prospective Investigation into Cancer and Nutrition. Cancer Epidemiol Biomarkers Prev, 16(3), 409-15.
  69. Karchin R, Monteiro AN, Tavtigian SV, Carvalho MA, Sali A (2007 Feb 16). Functional impact of missense variants in BRCA1 predicted by supervised learning. PLoS Comput Biol, 3(2), e26.
  70. Simard J, Dumont M, Moisan AM, Gaborieau V, Malouin H, Durocher F, Chiquette J, Plante M, Avard D, Bessette P, Brousseau C, Dorval M, Godard B, Houde L, Joly Y, Lajoie MA, Leblanc G, Lepine J, Lesperance B, Vezina H, Parboosingh J, Pichette R, Provencher L, Rheaume J, Sinnett D, Samson C, Simard JC, Tranchant M, Voyer P, Easton D, Tavtigian SV, Knoppers BM, Laframboise R, Bridge P, Goldgar D (2007 Feb). Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer. J Med Genet, 44(2), 107-21.
  71. Lovelock PK, Spurdle AB, Mok MT, Farrugia DJ, Lakhani SR, Healey S, Arnold S, Buchanan D, Couch FJ, Henderson BR, Goldgar DE, Tavtigian SV, Chenevix-Trench G, Brown MA (2007). Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Res, 9(6), R82.
  72. Waddell N, Jonnalagadda J, Marsh A, Grist S, Jenkins M, Hobson K, Taylor M, Lindeman GJ, Tavtigian SV, Suthers G, Goldgar D, Oefner PJ, Taylor D, Grimmond S, Khanna KK, Chenevix-Trench G (2006 Dec). Characterization of the breast cancer associated ATM 7271T>G (V2424G) mutation by gene expression profiling. Genes Chromosomes Cancer, 45(12), 1169-81.
  73. Sodha N, Mantoni TS, Tavtigian SV, Eeles R, Garrett MD (2006 Sep 15). Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation. Cancer Res, 66(18), 8966-70.
  74. Tavtigian SV, Deffenbaugh AM, Yin L, Judkins T, Scholl T, Samollow PB, de Silva D, Zharkikh A, Thomas A (2006 Apr). Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral. J Med Genet, 43(4), 295-305.
  75. Chenevix-Trench G, Healey S, Lakhani S, Waring P, Cummings M, Brinkworth R, Deffenbaugh AM, Burbidge LA, Pruss D, Judkins T, Scholl T, Bekessy A, Marsh A, Lovelock P, Wong M, Tesoriero A, Renard H, Southey M, Hopper JL, Yannoukakos K, Brown M, Easton D, Tavtigian SV, Goldgar D, Spurdle AB (2006 Feb 15). Genetic and histopathologic evaluation of BRCA1 and BRCA2 DNA sequence variants of unknown clinical significance. Cancer Res, 66(4), 2019-27.
  76. Ware MD, DeSilva D, Sinilnikova OM, Stoppa-Lyonnet D, Tavtigian SV, Mazoyer S (2006 Jan 12). Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene? Oncogene, 25(2), 323-8.
  77. Tavtigian SV, Samollow PB, de Silva D, Thomas A (2006). An analysis of unclassified missense substitutions in human BRCA1. Fam Cancer, 5(1), 77-88.
  78. Tavtigian SV, Pierotti MA, Borresen-Dale AL (2006). International Agency for Research on Cancer workshop on 'Expression array analyses in breast cancer taxonomy'. Breast Cancer Res, 8(6), 303.
  79. Durocher F, Labrie Y, Soucy P, Sinilnikova O, Labuda D, Bessette P, Chiquette J, Laframboise R, Lepine J, Lesperance B, Ouellette G, Pichette R, Plante M, Tavtigian SV, Simard J (2006). Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families. BMC Cancer, 6, 230.
  80. Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV (2006). Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res, 34(5), 1317-25.
  81. Lovelock PK, Healey S, Au W, Sum EY, Tesoriero A, Wong EM, Hinson S, Brinkworth R, Bekessy A, Diez O, Izatt L, Solomon E, Jenkins M, Renard H, Hopper J, Waring P, Tavtigian SV, Goldgar D, Lindeman GJ, Visvader JE, Couch FJ, Henderson BR, Southey M, Chenevix-Trench G, Spurdle AB, Brown MA (2006 Jan). Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants. J Med Genet, 43(1), 74-83.
  82. Al-Alem U, Li C, Forey N, Relouzat F, Fondaneche MC, Tavtigian SV, Wang ZQ, Latour S, Yin L (2005 Sep 15). Impaired Ig class switch in mice deficient for the X-linked lymphoproliferative disease gene Sap. Blood, 106(6), 2069-75.
  83. Camp NJ, Swensen J, Horne BD, Farnham JM, Thomas A, Cannon-Albright LA, Tavtigian SV (2005 Apr). Characterization of linkage disequilibrium structure, mutation history, and tagging SNPs, and their use in association analyses: ELAC2 and familial early-onset prostate cancer. Genet Epidemiol, 28(3), 232-43.
  84. Phelan CM, Dapic V, Tice B, Favis R, Kwan E, Barany F, Manoukian S, Radice P, van der Luijt RB, van Nesselrooij BP, Chenevix-Trench G, kConFab, Caldes T, de la Hoya M, Lindquist S, Tavtigian SV, Goldgar D, Borg A, Narod SA, Monteiro AN (2005 Feb). Classification of BRCA1 missense variants of unknown clinical significance. J Med Genet, 42(2), 138-46.
  85. Farnham JM, Camp NJ, Swensen J, Tavtigian SV, Albright LA (2005 Feb). Confirmation of the HPCX prostate cancer predisposition locus in large Utah prostate cancer pedigrees. Hum Genet, 116(3), 179-85.
  86. Wu K, Hinson SR, Ohashi A, Farrugia D, Wendt P, Tavtigian SV, Deffenbaugh A, Goldgar D, Couch FJ (2005 Jan 15). Functional evaluation and cancer risk assessment of BRCA2 unclassified variants. Cancer Res, 65(2), 417-26.
  87. Chen Y, Beck A, Davenport C, Chen Y, Shattuck D, Tavtigian SV (2005). Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z. BMC Mol Biol, 6(1), 12.
  88. Pettigrew C, Wayte N, Lovelock PK, Tavtigian SV, Chenevix-Trench G, Spurdle AB, Brown MA (2005). Evolutionary conservation analysis increases the colocalization of predicted exonic splicing enhancers in the BRCA1 gene with missense sequence changes and in-frame deletions, but not polymorphisms. Breast Cancer Res, 7(6), R929-39.
  89. Goldgar DE, Easton DF, Deffenbaugh AM, Monteiro AN, Tavtigian SV, Couch FJ (2004 Oct). Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2. Am J Hum Genet, 75(4), 535-44.
  90. Dumont M, Frank D, Moisan AM, Tranchant M, Soucy P, Breton R, Labrie F, Tavtigian SV, Simard J (2004 Sep 17). Structure of primate and rodent orthologs of the prostate cancer susceptibility gene ELAC2. Biochim Biophys Acta, 1679(3), 230-47.
  91. Abkevich V, Zharkikh A, Deffenbaugh AM, Frank D, Chen Y, Shattuck D, Skolnick MH, Gutin A, Tavtigian SV (2004 Jul). Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation. J Med Genet, 41(7), 492-507.
  92. Korver W, Guevara C, Chen Y, Neuteboom S, Bookstein R, Tavtigian S, Lees E (2003 Apr 10). The product of the candidate prostate cancer susceptibility gene ELAC2 interacts with the gamma-tubulin complex. Int J Cancer, 104(3), 283-8.
  93. Camp NJ, Tavtigian SV (2002 Dec). Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer. Am J Hum Genet, 71(6), 1475-8.
  94. Aparicio S, Chapman J, Stupka E, Putnam N, Chia JM, Dehal P, Christoffels A, Rash S, Hoon S, Smit A, Gelpke MD, Roach J, Oh T, Ho IY, Wong M, Detter C, Verhoef F, Predki P, Tay A, Lucas S, Richardson P, Smith SF, Clark MS, Edwards YJ, Doggett N, Zharkikh A, Tavtigian SV, Pruss D, Barnstead M, Evans C, Baden H, Powell J, Glusman G, Rowen L, Hood L, Tan YH, Elgar G, Hawkins T, Venkatesh B, Rokhsar D, Brenner S (2002 Aug 23). Whole-genome shotgun assembly and analysis of the genome of Fugu rubripes. Science, 297(5585), 1301-10.
  95. Goff SA, Ricke D, Lan TH, Presting G, Wang R, Dunn M, Glazebrook J, Sessions A, Oeller P, Varma H, Hadley D, Hutchison D, Martin C, Katagiri F, Lange BM, Moughamer T, Xia Y, Budworth P, Zhong J, Miguel T, Paszkowski U, Zhang S, Colbert M, Sun WL, Chen L, Cooper B, Park S, Wood TC, Mao L, Quail P, Wing R, Dean R, Yu Y, Zharkikh A, Shen R, Sahasrabudhe S, Thomas A, Cannings R, Gutin A, Pruss D, Reid J, Tavtigian S, Mitchell J, Eldredge G, Scholl T, Miller RM, Bhatnagar S, Adey N, Rubano T, Tusneem N, Robinson R, Feldhaus J, Macalma T, Oliphant A, Briggs S (2002 Apr 5). A draft sequence of the rice genome (Oryza sativa L. ssp. japonica). Science, 296(5565), 92-100.
  96. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC (2002 Mar 15). Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. J Clin Oncol, 20(6), 1480-90.
  97. Fujiwara H, Emi M, Nagai H, Nishimura T, Konishi N, Kubota Y, Ichikawa T, Takahashi S, Shuin T, Habuchi T, Ogawa O, Inoue K, Skolnick MH, Swensen J, Camp NJ, Tavtigian SV (2002). Association of common missense changes in ELAC2 ( HPC2) with prostate cancer in a Japanese case-control series. J Hum Genet, 47(12), 641-8.
  98. Eng C, Brody LC, Wagner TM, Devilee P, Vijg J, Szabo C, Tavtigian SV, Nathanson KL, Ostrander E, Frank TS (2001 Dec). Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J Med Genet, 38(12), 824-33.
  99. Teng DH, Chen Y, Lian L, Ha PC, Tavtigian SV, Wong AK (2001 Jun 15). Mutation analyses of 268 candidate genes in human tumor cell lines. Genomics, 74(3), 352-64.
  100. Vesprini D, Nam RK, Trachtenberg J, Jewett MA, Tavtigian SV, Emami M, Ho M, Toi A, Narod SA (2001 Apr). HPC2 variants and screen-detected prostate cancer. Am J Hum Genet, 68(4), 912-7.
  101. Tavtigian SV, Simard J, Teng DH, Abtin V, Baumgard M, Beck A, Camp NJ, Carillo AR, Chen Y, Dayananth P, Desrochers M, Dumont M, Farnham JM, Frank D, Frye C, Ghaffari S, Gupte JS, Hu R, Iliev D, Janecki T, Kort EN, Laity KE, Leavitt A, Leblanc G, McArthur-Morrison J, Pederson A, Penn B, Peterson KT, Reid JE, Richards S, Schroeder M, Smith R, Snyder SC, Swedlund B, Swensen J, Thomas A, Tranchant M, Woodland AM, Labrie F, Skolnick MH, Neuhausen S, Rommens J, Cannon-Albright LA (2001 Feb). A candidate prostate cancer susceptibility gene at chromosome 17p. Nat Genet, 27(2), 172-80.
  102. Wong AK, Shanahan F, Chen Y, Lian L, Ha P, Hendricks K, Ghaffari S, Iliev D, Penn B, Woodland AM, Smith R, Salada G, Carillo A, Laity K, Gupte J, Swedlund B, Tavtigian SV, Teng DH, Lees E (2000 Nov 1). BRG1, a component of the SWI-SNF complex, is mutated in multiple human tumor cell lines. Cancer Res, 60(21), 6171-7.
  103. Verhagen PC, Zhu XL, Rohr LR, Cannon-Albright LA, Tavtigian SV, Skolnick MH, Brothman AR (2000 Oct 1). Microdissection, DOP-PCR, and comparative genomic hybridization of paraffin-embedded familial prostate cancers. Cancer Genet Cytogenet, 122(1), 43-8.
  104. Adey NB, Huang L, Ormonde PA, Baumgard ML, Pero R, Byreddy DV, Tavtigian SV, Bartel PL (2000 Jan 1). Threonine phosphorylation of the MMAC1/PTEN PDZ binding domain both inhibits and stimulates PDZ binding. Cancer Res, 60(1), 35-7.
  105. Neuhausen SL, Farnham JM, Kort E, Tavtigian SV, Skolnick MH, Cannon-Albright LA (1999 Dec). Prostate cancer susceptibility locus HPC1 in Utah high-risk pedigrees. Hum Mol Genet, 8(13), 2437-42.
  106. Wong AK, Chen Y, Lian L, Ha PC, Petersen K, Laity K, Carillo A, Emerson M, Heichman K, Gupte J, Tavtigian SV, Teng DH (1999 Jul 15). Genomic structure, chromosomal location, and mutation analysis of the human CDC14A gene. Genomics, 59(2), 248-51.
  107. Morimoto AM, Berson AE, Fujii GH, Teng DH, Tavtigian SV, Bookstein R, Steck PA, Bolen JB (1999 Feb 11). Phenotypic analysis of human glioma cells expressing the MMAC1 tumor suppressor phosphatase. Oncogene, 18(6), 1261-6.
  108. Wong AK, Ormonde PA, Pero R, Chen Y, Lian L, Salada G, Berry S, Lawrence Q, Dayananth P, Ha P, Tavtigian SV, Teng DH, Bartel PL (1998 Nov 5). Characterization of a carboxy-terminal BRCA1 interacting protein. Oncogene, 17(18), 2279-85.
  109. Cheney IW, Johnson DE, Vaillancourt MT, Avanzini J, Morimoto A, Demers GW, Wills KN, Shabram PW, Bolen JB, Tavtigian SV, Bookstein R (1998 Jun 1). Suppression of tumorigenicity of glioblastoma cells by adenovirus-mediated MMAC1/PTEN gene transfer. Cancer Res, 58(11), 2331-4.
  110. Fults D, Pedone CA, Thompson GE, Uchiyama CM, Gumpper KL, Iliev D, Vinson VL, Tavtigian SV, Perry WL 3rd (1998 Apr). Microsatellite deletion mapping on chromosome 10q and mutation analysis of MMAC1, FAS, and MXI1 in human glioblastoma multiforme. Int J Oncol, 12(4), 905-10.
  111. Tavtigian SV, Thomas A, Frank TS, Skolnick MH (1998). The BRCA1 gene and its protein product: characterization, therapeutic implications, and diagnostic implications. Advances in Oncology, 14, 3-13.
  112. Wong AK, Pero R, Ormonde PA, Tavtigian SV, Bartel PL (1997 Dec 19). RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2. J Biol Chem, 272(51), 31941-4.
  113. Tsou HC, Teng DH, Ping XL, Brancolini V, Davis T, Hu R, Xie XX, Gruener AC, Schrager CA, Christiano AM, Eng C, Steck P, Ott J, Tavtigian SV, Peacocke M (1997 Nov). The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am J Hum Genet, 61(5), 1036-43.
  114. Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, Tavtigian SV, Teng DH, Adey N, Staebell M, Gumpper K, Lundstrom R, Hulick M, Kelly M, Holmen J, Lingenfelter B, Manley S, Fujimura F, Luce M, Ward B, Cannon-Albright L, Steele L, Offit K, Thomas A, et al (1997 Oct 15). BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA, 278(15), 1242-50.
  115. Teng DH, Perry WL 3rd, Hogan JK, Baumgard M, Bell R, Berry S, Davis T, Frank D, Frye C, Hattier T, Hu R, Jammulapati S, Janecki T, Leavitt A, Mitchell JT, Pero R, Sexton D, Schroeder M, Su PH, Swedlund B, Kyriakis JM, Avruch J, Bartel P, Wong AK, Tavtigian SV, et al (1997 Oct 1). Human mitogen-activated protein kinase kinase 4 as a candidate tumor suppressor. Cancer Res, 57(19), 4177-82.
  116. Hejlik DP, Kottickal LV, Liang H, Fairman J, Davis T, Janecki T, Sexton D, Perry W 3rd, Tavtigian SV, Teng DH, Nagarajan L (1997 Sep 1). Localization of SMAD5 and its evaluation as a candidate myeloid tumor suppressor. Cancer Res, 57(17), 3779-83.
  117. Steck PA, Pershouse MA, Jasser SA, Yung WK, Lin H, Ligon AH, Langford LA, Baumgard ML, Hattier T, Davis T, Frye C, Hu R, Swedlund B, Teng DH, Tavtigian SV (1997 Apr). Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers. Nat Genet, 15(4), 356-62.
  118. Teng DHF, Hu R, Lin H, Davis T, Iliev D, 22 authors Tavtigian SV, Steck PA (1997). MMAC1/PTEN mutations in primary tumor specimens and tumor cell lines. Cancer Res, 57, 5221-5225.
  119. Teng DH, Bogden R, Mitchell J, Baumgard M, Bell R, Berry S, Davis T, Ha PC, Kehrer R, Jammulapati S, Chen Q, Offit K, Skolnick MH, Tavtigian SV, Jhanwar S, Swedlund B, Wong AK, Kamb A (1996 Jun). Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nat Genet, 13(2), 241-4.
  120. Thorlacius S, Olafsdottir G, Tryggvadottir L, Neuhausen S, Jonasson JG, Tavtigian SV, Tulinius H, Ogmundsdottir HM, Eyfjord JE (1996 May). A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nat Genet, 13(1), 117-9.
  121. Couch FJ, Farid LM, DeShano ML, Tavtigian SV, Calzone K, Campeau L, Peng Y, Bogden B, Chen Q, Neuhausen S, Shattuck-Eidens D, Godwin AK, Daly M, Radford DM, Sedlacek S, Rommens J, Simard J, Garber J, Merajver S, Weber BL (1996 May). BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nat Genet, 13(1), 123-5.
  122. Tavtigian SV, Simard J, Rommens J, Couch F, Shattuck-Eidens D, Neuhausen S, Merajver S, Thorlacius S, Offit K, Stoppa-Lyonnet D, Belanger C, Bell R, Berry S, Bogden R, Chen Q, Davis T, Dumont M, Frye C, Hattier T, Jammulapati S, Janecki T, Jiang P, Kehrer R, Leblanc JF, Mitchell JT, McArthur-Morrison J, Nguyen K, Peng Y, Samson C, Schroeder M, Snyder SC, Steele L, Stringfellow M, Stroup C, Swedlund B, Swense J, Teng D, Thomas A, Tran T, Tranchant M, Weaver-Feldhaus J, Wong AK, Shizuya H, Eyfjord JE, Cannon-Albright L, Tranchant M, Labrie F, Skolnick MH, Weber B, Kamb A, Goldgar DE (1996 Mar). The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet, 12(3), 333-7.
  123. Couch FJ, Rommens JM, Neuhausen SL, Belanger C, Dumont M, Abel K, Bell R, Berry S, Bogden R, Cannon-Albright L, Farid L, Frye C, Hattier T, Janecki T, Jiang P, Kehrer R, Leblanc JF, McArthur-Morisson J, McSweeney D, Miki Y, Peng Y, Samson C, Schroeder M, Snyder SC, Stringfellow M, Stroup C, Swedlund B, Swensen J, Teng D, Thakur S, Tran T, Tranchant M, Welver-Feldhaus J, Wong AKC, Shizuya H, Labrie F, Skolnick MH, Goldgar DE, Kamb A, Weber BL, Tavtigian SV, Simard J (1996). Generation of an integrated transcription map of the BRCA2 region on chromosome 13q12-13. Genomics, 36, 86-99.
  124. Hattier T, Bell R, Shaffer D, Stone S, Phelps RS, Tavtigian SV, Skolnick MH, Shattuck-Eidens D, Kamb A (1995 Dec). Monitoring the efficacy of hybrid selection during positional cloning: the search for BRCA1. Mamm Genome, 6(12), 873-9.
  125. Stone S, Dayananth P, Jiang P, Weaver-Feldhaus JM, Tavtigian SV, Cannon-Albright L, Kamb A (1995 Sep 7). Genomic structure, expression and mutational analysis of the P15 (MTS2) gene. Oncogene, 11(5), 987-91.
  126. Stone S, Jiang P, Dayananth P, Tavtigian SV, Katcher H, Parry D, Peters G, Kamb A (1995 Jul 15). Complex structure and regulation of the P16 (MTS1) locus. Cancer Res, 55(14), 2988-94.
  127. Neuhausen SL, Swensen J, Miki Y, Liu Q, Tavtigian S, Shattuck-Eidens D, Kamb A, Hobbs MR, Gingrich J, Shizuya H, et al (1994 Nov). A P1-based physical map of the region from D17S776 to D17S78 containing the breast cancer susceptibility gene BRCA1. Hum Mol Genet, 3(11), 1919-26.
  128. Futreal PA, Liu Q, Shattuck-Eidens D, Cochran C, Harshman K, Tavtigian S, Bennett LM, Haugen-Strano A, Swensen J, Miki Y, et al (1994 Oct 7). BRCA1 mutations in primary breast and ovarian carcinomas. Science, 266(5182), 120-2.
  129. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, et al (1994 Oct 7). A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science, 266(5182), 66-71.
  130. Kamb A, Futreal PA, Rosenthal J, Cochran C, Harshman KD, Liu Q, Phelps RS, Tavtigian SV, Tran T, Hussey C, et al (1994 Sep 1). Localization of the VHR phosphatase gene and its analysis as a candidate for BRCA1. Genomics, 23(1), 163-7.
  131. Kamb A, Liu Q, Harshman K, Tavtigian S, Cordon-Cardo C, Skolnick MH (1994 Jul 15). Rates of p16 (MTS1) Mutations in Primary Tumors with 9p Loss (response). Science, 265(5170), 416-417.
  132. Kamb A, Gruis NA, Weaver-Feldhaus J, Liu Q, Harshman K, Tavtigian SV, Stockert E, Day RS 3rd, Johnson BE, Skolnick MH (1994 Apr 15). A cell cycle regulator potentially involved in genesis of many tumor types. Science, 264(5157), 436-40.
  133. Tavtigian SV, Zabludoff SD, Wold BJ (1994 Mar). Cloning of mid-G1 serum response genes and identification of a subset regulated by conditional myc expression. Mol Biol Cell, 5(3), 375-88.
  134. Futreal PA, Cochran C, Rosenthal J, Miki Y, Swensen J, Hobbs M, Bennett LM, Haugen-Strano A, Marks J, Barrett JC, Tavtigian SV, Shattuck-Eidens D, Kamb A, Skolnick M, Wiseman RW (1994). Isolation of a Diverged Homeobox Gene, MOX1, from the BRCA1 Region on 17q21 by Solution Hybrid Capture. Hum Mol Genet, 3, 1359.
  135. Fujimura RK, Tavtigian SV, Choy TL, Roop BC (1985 Feb). Physical locus of the DNA polymerase gene and genetic maps of bacteriophage T5 mutants. J Virol, 53(2), 495-500.


  1. Tavtigian SV, Chenevix-Trench G (). Growing recognition of the role for rare missense substitutions in breast cancer susceptibility. [Review]. Biomark Med, 8(4), 589-603.
  2. Lindor NM, Guidugli L, Wang X, Vallee MP, Monteiro AN, Tavtigian S, Goldgar DE, Couch FJ (2012 Jan). A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS). [Review]. Hum Mutat, 33(1), 8-21.
  3. Avard D, Bridge P, Bucci LM, Chiquette J, Dorval M, Durocher F, Easton D, Godard B, Goldgar D, Knoppers BM, Laframboise R, Lesperance B, Plante M, Tavtigian SV, Vezina H, Wilson B, Simard J (2006). Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges. [Review]. Fam Cancer, 5(1), 3-13.
  4. Hung RJ, van der Hel O, Tavtigian SV, Brennan P, Boffetta P, Hashibe M (2005 Dec 30). Perspectives on the molecular epidemiology of aerodigestive tract cancers. [Review]. Mutat Res, 592(1-2), 102-18.
  5. Simard J, Dumont M, Labuda D, Sinnett D, Meloche C, El-Alfy M, Berger L, Lees E, Labrie F, Tavtigian SV (2003 Jun). Prostate cancer susceptibility genes: lessons learned and challenges posed. [Review]. Endocr Relat Cancer, 10(2), 225-59.
  6. Skolnick MH, Frank T, Shattuck-Eidens D, Tavtigian S (1997 Mar). Genetic susceptibility to breast and ovarian cancer. [Review]. Pathol Biol (Paris), 45(3), 245-9.

Book Chapter

  1. Tavtigian SV, Le Calvez-Kelm F (2007). Molecular diagnostics: methods and limitations. In Tim Rebbeck & Claudine Isaacs (Eds.), Hereditary Breast Cancer. CRC Press.

Conference Proceedings

  1. Skolnick MH, Frank T, Shattuck-Eidens D, Tavtigian S (1997). Genetic susceptibility to breast and ovarian cancer. Symposium: Conferences LILLY 96 Pathol Biol, 45, 245-249.
  2. Tavtigian SV, Oliphant A, Shattuck-Eidens D, Bartel PL, Thomas A, Frank TS, Pruss D, Skolnick MH (1997). Genomic organization, functional analysis, and mutation screening of BRCA1 and BRCA2. General Motors Cancer Research Foundation: Accomplishments in Cancer Research 1996, 189-204.


  1. Tavtigian SV (2011 Jun). Comparison of programs for in silico assessment of missense substitutions. Hum Mutat, 32(6), v.

Case Report

  1. Lindor NM, Goldgar DE, Tavtigian SV, Plon SE, Couch FJ (2013). BRCA1/2 sequence variants of uncertain significance: a primer for providers to assist in discussions and in medical management. Oncologist, 18(5), 518-24.


  1. Cardis E, Hall J, Tavtigian SV (2007). Identification of women with an increased risk of developing radiation-induced breast cancer. Breast Cancer Res, 9(3), 106.


  1. Rasmussen LJ, Heinen CD, Royer-Pokora B, Drost M, Tavtigian S, Hofstra RM, de Wind N (2013 Jun). Response to: Design of a core classification process for DNA mismatch repair variations of a priori unknown functional significance [Letter to the editor]. Hum Mutat, 34(6), 923-4.


  1. Kohonen-Corish MR, Macrae F, Genuardi M, Aretz S, Bapat B, Bernstein IT, Burn J, Cotton RG, den Dunnen JT, Frebourg T, Greenblatt MS, Hofstra R, Holinski-Feder E, Lappalainen I, Lindblom A, Maglott D, Moller P, Morreau H, Moslein G, Sijmons R, Spurdle AB, Tavtigian S, Tops CM, Weber TK, de Wind N, Woods MO (2011 Apr). Deciphering the colon cancer genes--report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010. ASCP CheckSample Series (32(4), pp. 491-4). United States.
  2. Kaput J, Cotton RG, Hardman L, Watson M, Al Aqeel AI, Al-Aama JY, Al-Mulla F, Alonso S, Aretz S, Auerbach AD, Bapat B, Bernstein IT, Bhak J, Bleoo SL, Blocker H, Brenner SE, Burn J, Bustamante M, Calzone R, Cambon-Thomsen A, Cargill M, Carrera P, Cavedon L, Cho YS, Chung YJ, Claustres M, Cutting G, Dalgleish R, den Dunnen JT, Diaz C, Dobrowolski S, dos Santos MR, Ekong R, Flanagan SB, Flicek P, Furukawa Y, Genuardi M, Ghang H, Golubenko MV, Greenblatt MS, Hamosh A, Hancock JM, Hardison R, Harrison TM, Hoffmann R, Horaitis R, Howard HJ, Barash CI, Izagirre N, Jung J, Kojima T, Laradi S, Lee YS, Lee JY, Gil-da-Silva-Lopes VL, Macrae FA, Maglott D, Marafie MJ, Marsh SG, Matsubara Y, Messiaen LM, Moslein G, Netea MG, Norton ML, Oefner PJ, Oetting WS, OLeary JC, de Ramirez AM, Paalman MH, Parboosingh J, Patrinos GP, Perozzi G, Phillips IR, Povey S, Prasad S, Qi M, Quin DJ, Ramesar RS, Richards CS, Savige J, Scheible DG, Scott RJ, Seminara D, Shephard EA, Sijmons RH, Smith TD, Sobrido MJ, Tanaka T, Tavtigian SV, Taylor GR, Teague J, Topel T, Ullman-Cullere M, Utsunomiya J, van Kranen HJ, Vihinen M, Webb E, Weber TK, Yeager M, Yeom YI, Yim SH, Yoo HS (2009 Apr). Planning the human variome project: the Spain report. Utah Special Educator (30(4), pp. 496-510). United States.