Deborah Wood Neklason

Deborah Wood Neklason, PhD

Languages spoken: English

Academic Information

Departments Adjunct - Oncological Sciences , Primary - Internal Medicine

Divisions: Epidemiology

Lab

Deborah Neklason, PhD, is a member of Huntsman Cancer Institute's gastrointestinal cancer research team and research associate professor in the Department of Internal Medicine at the University of Utah School of Medicine. She is also a member of the Cancer Control and Population Sciences Program and the Program Director of Utah Genome Project.

Neklason's work focuses characterizing the clinical phenotype and the genetic and environmental risk factors underlying familial cancers with a focus on gastrointestinal cancers. This work has led to multiple successful clinical studies targeting the prevention of cancer in these high risk families. Currently efforts are directed at preventing cancer in individuals with Lynch syndrome and familial adenomatous polyposis. She also uses data managed by the Utah Population Database (state-wide genealogy overlaid with statewide cancer records, electronic medical records, and environmental exposures) and Utah Cancer Registry to define genetic and environmental exposures underlying the rise in small intestinal carcinoid (neuroendocrine) cancer incidence. She leads lead the Hereditary Gastrointestinal Cancer Registry at Huntsman Cancer Institute which is a longitudinal research registry of over 4000 research participants dating back 20 years. Many productive collaborations have come from this research registry.

Prior to joining Huntsman Cancer Institute, Neklason was manager for biochemical assay products at Echelon Biosciences in Salt Lake City. She received her PhD in human genetics from the University of Utah in 1999.

Research Statement

I am a genetic epidemiologist with a focus on the familial risk and molecular genetics underlying cancer. My primary objective is to translate knowledge to improved clinical care. Over the past 20 years, my research focus has been to characterize the clinical phenotype and the genetic and environmental risk factors underlying hereditary cancer syndromes with an emphasis on gastrointestinal cancers. Over this period, I have made a large impact on how familial adenomatous polyposis (FAP) is managed and treated. I hope to do this with Lynch syndrome and small intestinal neuroendocrine tumors (SINET). My work has resulted in preventing cancer in 100’s of mutation positive individuals (Lynch syndrome and FAP) through genetic diagnosis and screening recommendations. We maintain longitudinal research relationships with these high-risk cancer families (~3000 participants) through the Hereditary Gastrointestinal Cancer Registry at Huntsman Cancer Institute of which I serve as Principal Investigator.

I am also the Program Director of the Utah Genome Project at University of Utah. This is an aggressive institutional initiative to bring University of Utah clinicians and researchers together to understand genetics of human health across all medical disciplines and use this knowledge to transform healthcare. Through this, I have helped develop of a network of resources and collaborations (human subject research protocols, analysis, clinical testing, computation, biobanking, genetic counseling, etc).

With the current access and affordability of high throughput genetic sequencing and analysis, universal genetic testing in cancer cases and their families can be a realty. My research and leadership experience in working with these families to prevent future cancers is central to my primary career objective. With this experience, I can successfully implement and contribute to this project.

Education History

Undergraduate University of Washington
 BS
Doctoral Training University of Utah
 PhD
Other Training University of Utah
 Certificate

Selected Publications

Journal Article

  1. Millar MM, Kinney AY, Camp NJ, Cannon-Albright LA, Hashibe M, Penson DF, Kirchhoff AC, Neklason DW, Gilsenan AW, Dieck GS, Stroup AM, Edwards SL, Bateman C, Carter ME, Sweeney (2019). Predictors of Response Outcomes for Research Recruitment Through a Central Cancer Registry: Evidence From 17 Recruitment Efforts for Population-Based Studies. American journal of epidemiology, 188(5), 928-939.
  2. Neklason DW, Thorpe BL, Ferrandez A, Tumbapura A, Boucher K, Garibotti G, Kerber RA, Solomon CH, Samowitz WS, Fang JC, Mineau GP, Leppert MF, Burt RW, Kuwada S (2008). Colonic adenoma risk in familial colorectal cancer--a study of six extended kindreds. The American journal of gastroenterology, 103(10), 2577-84.
  3. Li J, Woods SL, Healey S, Beesley J, Chen X, Lee JS, Sivakumaran H, Wayte N, Nones K, Waterfall JJ, Pearson J, Patch AM, Senz J, Ferreira MA, Kaurah P, Mackenzie R, Heravi-Moussavi A, Hansford S, Lannagan TRM, Spurdle AB, Simpson PT, da Silva L, Lakhani SR, Clouston AD, Bettington M, Grimpen F, Busuttil RA, Di Costanzo N, Boussioutas A, Jeanjean M, Chong G, Fabre A, Olschwang S, Faulkner GJ, Bellos E, Coin L, Rioux K, Bathe OF, Wen X, Martin HC, Neklason DW, Davis SR, Walker RL, Calzone KA, Avital I, Heller T, Koh C, Pineda M, Rudloff U, Quezado M, Pichurin PN, Hulick PJ, Weissman SM, Newlin A, Rubinstein WS, Sampson JE, Hamman K, Goldgar D, Poplawski N, Phillips K, Schofield L, Armstrong J, Kiraly-Borri C, Suthers GK, Huntsman DG, Foulkes WD, Carneiro F, Lindor NM, Edwards SL, French JD, Waddell N, Meltzer PS, Worthley DL, Schrader KA, Chenevix-Trench (2016). Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant. American journal of human genetics, 98(5), 830-842.
  4. Knight S, Abo RP, Abel HJ, Neklason DW, Tuohy TM, Burt RW, Thomas A, Camp N (2012). Shared genomic segment analysis: the power to find rare disease variants. Annals of human genetics, 76(6), 500-9.
  5. Curtin K, Cannon-Albright LA, VanDerslice J, Yu Z, Herget KA, Thota R, Neklason D (2019). Associations of Tobacco and Alcohol Use with Risk of Neuroendocrine Tumors of the Small Intestine in Utah. Cancer epidemiology, biomarkers & prevention, 28(12), 1998-2004.
  6. Neklason DW, Kerber RA, Nilson DB, Anton-Culver H, Schwartz AG, Griffin CA, Lowery JT, Schildkraut JM, Evans JP, Tomlinson GE, Strong LC, Miller AR, Stopfer JE, Finkelstein DM, Nadkarni PM, Kasten CH, Mineau GP, Burt R (2008). Common familial colorectal cancer linked to chromosome 7q31: a genome-wide analysis. Cancer research, 68(21), 8993-7.
  7. Snow AK, Tuohy TM, Sargent NR, Smith LJ, Burt RW, Neklason D (2015). APC promoter 1B deletion in seven American families with familial adenomatous polyposis. Clinical genetics, 88(4), 360-5.
  8. Burt RW, Leppert MF, Slattery ML, Samowitz WS, Spirio LN, Kerber RA, Kuwada SK, Neklason DW, Disario JA, Lyon E, Hughes JP, Chey WY, White R (2004). Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis. Gastroenterology, 127(2), 444-51.
  9. Jasperson KW, Tuohy TM, Neklason DW, Burt R (2010). Hereditary and familial colon cancer. Gastroenterology, 138(6), 2044-58.
  10. 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 S (2016). Effect of Sulindac and Erlotinib vs Placebo on Duodenal Neoplasia in Familial Adenomatous Polyposis: A Randomized Clinical Trial. JAMA, 315(12), 1266-75.
  11. Neklason DW, VanDerslice J, Curtin K, Cannon-Albright L (2016). Evidence for a heritable contribution to neuroendocrine tumors of the small intestine. Endocrine-related cancer, 23(2), 93-100.
  12. Sample DC, Samadder NJ, Pappas LM, Boucher KM, Samowitz WS, Berry T, Westover M, Nathan D, Kanth P, Byrne KR, Burt RW, Neklason D (2018). Variables affecting penetrance of gastric and duodenal phenotype in familial adenomatous polyposis patients. BMC gastroenterology, 18(1), 115.
  13. Neklason DW, Done MW, Sargent NR, Schwartz AG, Anton-Culver H, Griffin CA, Ahnen DJ, Schildkraut JM, Tomlinson GE, Strong LC, Miller AR, Stopfer JE, Burt R (2011). Activating mutation in MET oncogene in familial colorectal cancer. BMC cancer, 11, 424.
  14. 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 S (2018). Pancreatic cancer as a sentinel for hereditary cancer predisposition. BMC cancer, 18(1), 697.
  15. Kerber RA, Neklason DW, Samowitz WS, Burt R (2005). Frequency of familial colon cancer and hereditary nonpolyposis colorectal cancer (Lynch syndrome) in a large population database. Familial cancer, 4(3), 239-44.
  16. Neklason DW, Stevens J, Boucher KM, Kerber RA, Matsunami N, Barlow J, Mineau G, Leppert MF, Burt R (2008). American founder mutation for attenuated familial adenomatous polyposis. Clinical gastroenterology and hepatology, 6(1), 46-52.
  17. Samadder NJ, Neklason D, Snow A, Samowitz W, Cessna MH, Rowe K, Sandhu I, Boucher K, Pappas L, Smith KR, Wong J, Curtin K, Provenzale D, Burt R (2019). Clinical and Molecular Features of Post-Colonoscopy Colorectal Cancers. Clinical gastroenterology and hepatology, 17(13), 2731-2739.e2.
  18. VanDerslice J, Taddie MC, Curtin K, Miller C, Yu Z, Hemmert R, Cannon-Albright LA, Neklason D (2020). Early life exposures associated with risk of small intestinal neuroendocrine tumors. PloS one, 15(4), e0231991.
  19. Kanth P, Bronner MP, Boucher KM, Burt RW, Neklason DW, Hagedorn CH, Delker D (2016). Gene Signature in Sessile Serrated Polyps Identifies Colon Cancer Subtype. Cancer prevention research (Philadelphia, Pa.), 9(6), 456-65.
  20. Delker DA, Wood AC, Snow AK, Samadder NJ, Samowitz WS, Affolter KE, Boucher KM, Pappas LM, Stijleman IJ, Kanth P, Byrne KR, Burt RW, Bernard PS, Neklason D (2018). Chemoprevention with Cyclooxygenase and Epidermal Growth Factor Receptor Inhibitors in Familial Adenomatous Polyposis Patients: mRNA Signatures of Duodenal Neoplasia. Cancer prevention research (Philadelphia, Pa.), 11(1), 4-15.
  21. Bong YS, Assefnia S, Tuohy T, Neklason DW, Burt RW, Ahn J, Bueno De Mesquita PJ, Byers S (2016). A role for the vitamin D pathway in non-intestinal lesions in genetic and carcinogen models of colorectal cancer and in familial adenomatous polyposis. Oncotarget, 7(49), 80508-80520.
  22. 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 D (2018). Association of Sulindac and Erlotinib vs Placebo With Colorectal Neoplasia in Familial Adenomatous Polyposis: Secondary Analysis of a Randomized Clinical Trial. JAMA oncology, 4(5), 671-677.
  23. Kanth P, Yu Z, Keener MB, Koptiuch C, Kohlmann WK, Neklason DW, Westover M, Curtin (2022). Cancer Risk in Patients With and Relatives of Serrated Polyposis Syndrome and Sporadic Sessile Serrated Lesions. The American journal of gastroenterology, 117(2), 336-342.
  24. Cannon AR, Keener M, Neklason D, Pickron T (2021). Surgical Interventions, Malignancies, and Causes of Death in a FAP Patient Registry. Journal of gastrointestinal surgery, 25(2), 452-456.
  25. Byun S, Affolter KE, Snow AK, Curtin K, Cannon AR, Cannon-Albright LA, Thota R, Neklason D (2021). Differential methylation of G-protein coupled receptor signaling genes in gastrointestinal neuroendocrine tumors. Scientific reports, 11(1), 12303.
  26. Cannon-Albright LA, Teerlink CC, Stevens J, Snow AK, Thompson BA, Bell R, Nguyen KN, Sargent NR, Kohlmann WK, Neklason DW, Tavtigian S (2020). FANCM c5791C>T stopgain mutation (rs144567652) is a familial colorectal cancer risk factor. Molecular genetics & genomic medicine, 8(12), e1532.
  27. Donovan LN, Kohlmann W, Snow AK, Neklason DW, Schiffman JD, Maese (2020). Germ Cell Mosaicism: A Rare Cause of Li-Fraumeni Recurrence Among Siblings. JCO precision oncology, 4,
  28. International Mismatch Repair Consortiu (2021). Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study. The Lancet. Oncology, 22(7), 1014-1022.
  29. Workalemahu T, Clark EAS, Madsen MJ, Yu Z, Dalton SE, Esplin MS, Manuck T, Neklason D, Wilfred Wu CH, Jorde LB, Camp NJ, Silver RM, Varner M (2024). Mapping genetic susceptibility to spontaneous preterm birth: Analysis of Utah pedigrees to find inherited genetic factors. American journal of obstetrics and gynecology, 232(6), 557.e1-557.e10.
  30. Porubsky D, Dashnow H, Sasani TA, Logsdon GA, Hallast P, Noyes MD, Kronenberg ZN, Mokveld T, Koundinya N, Nolan C, Steely CJ, Guarracino A, Dolzhenko E, Harvey WT, Rowell WJ, Grigorev K, Nicholas TJ, Oshima KK, Lin J, Ebert P, Watkins WS, Leung TY, Hanlon VCT, McGee S, Pedersen BS, Goldberg ME, Happ HC, Jeong H, Munson KM, Hoekzema K, Chan DD, Wang Y, Knuth J, Garcia GH, Fanslow C, Lambert C, Lee C, Smith JD, Levy S, Mason CE, Garrison E, Lansdorp PM, Neklason DW, Jorde LB, Quinlan AR, Eberle MA, Eichler E (2024). A familial, telomere-to-telomere reference for human de novo mutation and recombination from a four-generation pedigree. bioRxiv,
  31. Gibson E, Li H, Staub J, Neklason D, Keener M, Kanth (2024). Colonoscopy and Upper Endoscopy Surveillance in Lynch Syndrome: A Longitudinal Study From a Large Tertiary Healthcare System. Gastro hep advances, 3(7), 995-1000.
  32. Duran JA, Watkins WS, Neklason DW, Jorde L (2024). Genetic Resonance: Dissecting the Heritability and Genetic Correlations of Human Hearing Acuity. G3 (Bethesda, Md.),
  33. Yu Y, Feng B, Chang CP, Bell R, Wood A, Sturgis E, Li G, Olshan A, Chen CJ, Lou PJ, Hsu WL, Cessna M, Witt B, Neklason D, Hashibe M, Huff C, Tavtigian (2025). Exome Sequencing for Head and Neck Cancer Predisposition Genes. bioRxiv,
  34. Young B, Neklason DW, Clark K, Feng BJ, Keener MB, Tuohy TM, Wood A, McKinnon WC, Greenblatt MS, Tavtigian S (2025). Functional Characterization of a Genetic Variant in the 5' UTR of APC 1B Promoter in a Familial Adenomatous Polyposis Family. American journal of medical genetics. Part A, e63992.
  35. Bujnis M, DeSalvo K, Neklason DW, Madsen MJ, Jorde L (2025). Familial risk of Hashimoto's thyroiditis in a large genealogical database. The Journal of clinical endocrinology and metabolism,
  36. Porubsky D, Dashnow H, Sasani TA, Logsdon GA, Hallast P, Noyes MD, Kronenberg ZN, Mokveld T, Koundinya N, Nolan C, Steely CJ, Guarracino A, Dolzhenko E, Harvey WT, Rowell WJ, Grigorev K, Nicholas TJ, Goldberg ME, Oshima KK, Lin J, Ebert P, Watkins WS, Leung TY, Hanlon VCT, McGee S, Pedersen BS, Happ HC, Jeong H, Munson KM, Hoekzema K, Chan DD, Wang Y, Knuth J, Garcia GH, Fanslow C, Lambert C, Lee C, Smith JD, Levy S, Mason CE, Garrison E, Lansdorp PM, Neklason DW, Jorde LB, Quinlan AR, Eberle MA, Eichler E (2025). Human de novo mutation rates from a four-generation pedigree reference. Nature,
  37. Jiang A, Huntsman A, Becker C, Feng BJ, Marks K, Donigan J, Duffy KL, Frigerio A, Grossman D, Neklason DW, Judson-Torres RL, Deacon D (2025). Assessing MC1R Variants in Lentigo Maligna Melanoma within the Utah Population. Cancer research communications, 5(7), 1228-1234.
  38. Kronenberg Z, Nolan C, Porubsky D, Mokveld T, Rowell WJ, Lee S, Dolzhenko E, Chang PC, Holt JM, Saunders CT, Olson ND, Steely CJ, McGee S, Guarracino A, Koundinya N, Harvey WT, Watkins WS, Munson KM, Hoekzema K, Chua KP, Chen X, Fanslow C, Lambert C, Dashnow H, Garrison E, Smith JD, Lansdorp PM, Zook JM, Carroll A, Jorde LB, Neklason DW, Quinlan AR, Eichler EE, Eberle M (2025). The Platinum Pedigree: a long-read benchmark for genetic variants. Nature methods, 22(8), 1669-1676.
  39. Lin J, Mastrorosa FK, Noyes MD, Yoo D, Rhie A, Porubsky D, Hoekzema K, Munson KM, Koundinya N, Watkins WS, Jorde LB, Quinlan AR, Neklason DW, Phillippy AM, Eichler E (2025). Human acrocentric chromosome short arm de novo mutation and recombination. bioRxiv,
  40. Workalemahu T, Madsen MJ, Lopez S, Page JM, Blue NR, Avery C, Sargent R, Yu Z, Guinto E, Branch DW, Leisher S, Jorde LB, Quinlan A, Coon H, Varner MW, Roberts CT, Neklason DW, Camp NJ, Silver R (2025). Inherited genetic risk in stillbirth: A shared genomic segments analysis of high-risk pedigrees. HGG advances, 7(1), 100546.
  41. Happ HC, Sasani TA, Warner D, Neklason DW, Quinlan A (2025). AVITI sequencing of a four-generation CEPH/Utah pedigree confirms low mutation rates at homopolymer loci despite their low sequence complexity. bioRxiv,

Review

  1. Prestwich GD, Chen R, Feng L, Ozaki S, Ferguson CG, Drees BE, Neklason DA, Mostert MJ, Porter-Gill PA, Kang VH, Shope JC, Neilsen PO, Dewald D (2002). In situ detection of phospholipid and phosphoinositide metabolism. Advances in enzyme regulation, 42, 19-38.

Letter

  1. Thompson BA, Snow AK, Koptiuch C, Kohlmann WK, Mooney R, Johnson S, Huff CD, Yu Y, Teerlink CC, Feng BJ, Neklason DW, Cannon-Albright LA, Tavtigian S (2020). A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis. Clinical genetics, 97(6), 943-944.

Abstract

  1. Neklason, DW, Kerber, R, Nilson, D, Mineau, G, Burt, R (2006). Common familial colorectal cancer linked to chromosome 7q32.33: a sibpair study. Hereditary cancer in clinical practice,
  2. Deborah Neklason, Kim Herget, Austin Wood, Angela Snow, Lisa Cannon-Albright, James VanDerslice, Carol Sweeney, Rachael Hemmert, Marissa Taddie, Karen Curti (2017). Incidence and Familial Etiology of Small Intestinal Neuroendocrine Tumors from Utah Population.
  3. Condie MW, Tuohy TMF, Shires P, Burt RW, Neklason D (2010). 13th annual meeting of the collaborative group of the americas on inherited colorectal cancer honolulu, hawaii, USA. 16-17 october 2009. Abstracts. Hereditary cancer in clinical practice, 8 Suppl 1(Suppl 1), O1-P24.