The following is a selection of recent publications from members of the Niehaus Center:
(*) denote references cited in text; others are either uncited relevant papers or a representative list of projects in which biospecimens were processed or analyzed by the Offit lab, or where computational or other contributions were made by Offit lab toward collaborative genetic epidemiologic studies.
“…” denotes other contributing authors for large multi-authored papers, omitted here to be concise; full reference via PUBMED citation
2007
(*) Robson M, Offit K. Clinical practice. Management of an inherited predisposition to breast cancer. N Engl J Med. 2007 Jul 12;357(2):154-62. doi: 10.1056/NEJMcp071286. PMID: 17625127. (Niehaus-Southworth-Weissenbach Research Fund)
2010
(*) Gallagher DJ, Gaudet MM, Pal P, …, Offit K. Germline BRCA mutations denote a clinicopathologic subset of prostate cancer. Clin Cancer Res.. 2010 Apr 1;16(7):2115-21.. doi: 10.1158/1078-0432.CCR-09-2871.. Epub 2010 Mar 9.. PMID: 20215531;.PMCID: PMC3713614
(*) Gaudet MM, Kirchhoff T, Green T, …, Offit K. Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. PLoS Genet.. 2010 Oct 28;6(10):e1001183.. doi: 10.1371/journal.pgen.1001183.. Erratum in: PLoS Genet.. 2010;6(11).. doi: 10.1371/annotation/59ea8540-4e63-4f4a-a79e-f68765fdeac7.. Greene, Mark I [corrected to Greene, Mark H].. Erratum in: PLoS Genet.. 2010;6(11).. doi: 10.1371/annotation/b28cf02d-7196-4a16-8b36-6562a0b84f75.. EMBRACE [added].. PMID: 21060860;.PMCID: PMC2965747
2012
(*) Stadler ZK, Esposito D, Shah S, …, Offit K. Rare de novo germline copy-number variation in testicular cancer. Am J Hum Genet.. 2012 Aug 10;91(2):379-83.. doi: 10.1016/j.ajhg.2012.06.019.. Epub 2012 Aug 2.. PMID: 22863192;.PMCID: PMC3415553
2013
(*) Ballew BJ, Joseph V, … Offit K, Boulton SJ, Savage SA, Petrini JH. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. PLoS Genet.. 2013 PMID: 24009516;.PMCID: PMC3757051
(*) Berndt SI, Skibola CF, Joseph V, …. Offit K… Chanock SJ, Rothman N, Slager SL. Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.. Nat Genet.. 2013 Aug;45(8):868-76.. doi: 10.1038/ng.2652.. Epub 2013 Jun 16.. PMID: 23770605;.PMCID: PMC3729927
(*) Gaudet MM, Kuchenbaecker KB, Vijai J, …, Offit K. Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk. PLoS Genet.. 2013;9(3):e1003173.. doi: 10.1371/journal.pgen.1003173.. Epub 2013 Mar 27.. PMID: 23544012;.PMCID: PMC3609647
(*) Joseph, V., Kirchhoff T, Schrader KA, …, Offit K. Susceptibility loci associated with specific and shared subtypes of lymphoid malignancies. PLoS Genet.. 2013;9(1):e1003220.. doi: 10.1371/journal.pgen.1003220.. Epub 2013 Jan 17.. PMID: 23349640;.PMCID: PMC3547842
(*) Shah S, Schrader KA, Waanders E, …, Offit K. A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia. Nat Genet.. 2013 Oct;45(10):1226-1231.. doi: 10.1038/ng.2754.. Epub 2013 Sep 8.. PMID: 24013638;.PMCID: PMC3919799
2014
(*) Cerhan JR, Berndt SI, Vijai J,… Offit K… Rothman N, Chanock SJ. Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma. Nat Genet.. 2014 Nov;46(11):1233-8.. doi: 10.1038/ng.3105.. Epub 2014 Sep 28.. PMID: 25261932;.PMCID: PMC4213349
(*) Skibola CF, Berndt SI, Vijai J, … Offit K, Chanock SJ, Rothman N. Genome-wide association study identifies five susceptibility loci for follicular lymphoma outside the HLA region. Am J Hum Genet.. 2014 Oct 2;95(4):462-71.. doi: 10.1016/j.ajhg.2014.09.004.. PMID: 25279986;.PMCID: PMC4185120
2015
(*) Topka S, Vijai J, Walsh MF, Jacobs L, Maria A, Villano D, Gaddam P, Wu G, McGee RB, Quinn E, Inaba H, Hartford C, Pui CH, Pappo A, Edmonson M, Zhang MY, Stepensky P, Steinherz P, Schrader K, Lincoln A, Bussel J, Lipkin SM, Goldgur Y, Harit M, Stadler ZK, Mullighan C, Weintraub M, Shimamura A, Zhang J, Downing JR, Nichols KE, Offit K. Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia. PLoS Genet.. 2015 Jun 23;11(6):e1005262.. doi: 10.1371/journal.pgen.1005262.. PMID: 26102509;.PMCID: PMC4477877
(*) Vijai J, Wang Z, Berndt SI, … Offit K, Chanock SJ, Rothman N, Nieters A. A genome-wide association study of marginal zone lymphoma shows association to the HLA region. Nat Commun.. 2015 Jan 8;6:5751.. doi: 10.1038/ncomms6751.. PMID: 25569183;.PMCID: PMC4287989
2016
(*) Berndt SI, Camp NJ, Skibola CF, Vijai J,… Fraumeni JF, Offit K, Wu X, de Sanjose S, Cerhan JR, Chanock SJ, Rothman N, Slager SL. Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia. Nat Commun.. 2016 Mar 9;7:10933.. doi: 10.1038/ncomms10933.. PMID: 26956414;.PMCID: PMC4786871
(*) Joseph, V., Topka S, Villano D, …, Offit K. A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer. Cancer Discov.. 2016 Nov;6(11):1267-1275.. doi: 10.1158/2159-8290.CD-16-0487.. Epub 2016 Sep 21.. PMID: 27655433;.PMCID: PMC5614601
(*) Maxwell KN, Hart SN, Vijai J, …. Offit K, Couch FJ, Nathanson KL. Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.. Am J Hum Genet.. 2016 May 5;98(5):801-817.. doi: 10.1016/j.ajhg.2016.02.024.. PMID: 27153395;.PMCID: PMC4863474
(*) Pritchard CG (*)……, Offit K (**), Bono JD (**), Nelson PS (**). Inherited DNA Repair Gene Mutations in Men with Metastatic Prostate Cancer New England J Medicine 2016 375 (5) 443-453. (*) co-first author (**) co-senior authors.PMCID: PMC4986616 (*) co-first author (**) co-senior authors
(*) Stadler ZK, Battaglin F, Middha S, …, Offit K, …, Shia J, Solit DB, Saltz LB. Reliable Detection of Mismatch Repair Deficiency in Colorectal Cancers Using Mutational Load in Next-Generation Sequencing Panels. J Clin Oncol.. 2016 Jun 20;34(18):2141-7.. doi: 10.1200/JCO.2015.65.1067.. Epub 2016 Mar 28.. PMID: 27022117;.PMCID: PMC4962706
2017
(*) Slavin TP, Maxwell KN, Lilyquist J, …, Offit K, Nathanson KL, Weitzel JN, Couch FJ. The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk. NPJ Breast Cancer.. 2017 Jun 9;3:22.. doi: 10.1038/s41523-017-0024-8.. Erratum in: NPJ Breast Cancer.. 2017 Nov 7;3:44.. PMID: 28649662;.PMCID: PMC5466608
(*) Walsh MF, Kennedy J, Harlan M, …, Offit K. Germline BRCA2 mutations detected in pediatric sequencing studies impact parents’ evaluation and care. Cold Spring Harb Mol Case Stud.. 2017 Nov 21;3(6):a001925.. doi: 10.1101/mcs.a001925.. PMID: 28655807;.PMCID: PMC5701310
2018
(*) Carlo MI, Mukherjee S, Mandelker D, …, Offit K. Prevalence of Germline Mutations in Cancer Susceptibility Genes in Patients With Advanced Renal Cell Carcinoma. JAMA Oncol.. 2018 Sep 1;4(9):1228-1235.. doi: 10.1001/jamaoncol.2018.1986.. PMID: 29978187;.PMCID: PMC6584283
(*) Dubard Gault M, Mandelker D, DeLair D, …, Offit K, Walsh MF. Germline SDHA mutations in children and adults with cancer Cold Spring Harb Mol Case Stud. 2018 Aug 1;4(4):a002584. doi: 10.1101/mcs.a002584. Print 2018 Aug. PMID: 30068732
(*) Lowery MA, Wong W, Jordan EJ, …, Offit K, Stadler ZK, O’Reilly EM. Prospective Evaluation of Germline Alterations in Patients With Exocrine Pancreatic Neoplasms. J Natl Cancer Inst.. 2018 Oct 1;110(10):1067-1074.. doi: 10.1093/jnci/djy024.. PMID: 29506128;.PMCID: PMC6186514
(*) Mandelker D, Zhang L, Kemel Y, …, Offit K. Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. JAMA.. 2017 Sep 5;318(9):825-835.. doi: 10.1001/jama.2017.11137.. Erratum in: JAMA.. 2018 Dec 11;320(22):2381.. PMID: 28873162;.PMCID: PMC5611881
(*) McMaster ML, …..Offit K.. Vijai J, Goldin LR, Skibola CF, Caporaso NE. Two high-risk susceptibility loci at 6p25.3 and 14q32.13 for Waldenström macroglobulinemia.. Nat Commun.. 2018 Oct 10;9(1):4182.. doi: 10.1038/s41467-018-06541-2.. PMID: 30305637;.PMCID: PMC6180091
Neumeyer S, Banbury BL, Arndt V, …, Offit K, …, Brenner H, Peters U, Chang-Claude J. Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer. Br J Cancer.. 2018 Jun;118(12):1639-1647.. doi: 10.1038/s41416-018-0108-8.. Epub 2018 May 24.. PMID: 29795306;.PMCID: PMC6008474
Rebbeck TR, Friebel TM, Friedman E, …, Offit K, …, Spurdle AB, Antoniou AC, Nathanson KL. Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. Hum Mutat.. 2018 May;39(5):593-620.. doi: 10.1002/humu.23406.. Epub 2018 Mar 12.. PMID: 29446198;.PMCID: PMC5903938
(*) Walsh MF, Ritter DI, Kesserwan C, …, Offit K, Plon SE. Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes. Hum Mutat.. 2018 Nov;39(11):1542-1552.. doi: 10.1002/humu.23640.. PMID: 30311369;.PMCID: PMC6310222
Wang SS, Carrington M, Berndt SI, …, Offit K, …, Rothman N, Hartge P, Skibola CF. HLA Class I and II Diversity Contributes to the Etiologic Heterogeneity of Non-Hodgkin Lymphoma Subtypes. Cancer Res.. 2018 Jul 15;78(14):4086-4096.. doi: 10.1158/0008-5472.CAN-17-2900.. Epub 2018 May 7.. PMID: 29735552;.PMCID: PMC6065509
2019
Bien SA, Su YR, Conti DV, …, Offit K, …, Hsu L, Zheng W, Peters U. Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer. Hum Genet.. 2019 Apr;138(4):307-326.. doi: 10.1007/s00439-019-01989-8.. Epub 2019 Feb 28.. Erratum in: Hum Genet.. 2019 Jun 28;: PMID: 30820706;.PMCID: PMC6483948
(*) Cadoo KA, Mandelker DL, Mukherjee S, …, Offit K, Aghajanian C, Rustum NRA, Stadler Z. Understanding inherited risk in unselected newly diagnosed patients with endometrial cancer. JCO Precis Oncol.. 2019;3:PO.18.00338.. doi: 10.1200/po.18.00338.. Epub 2019 Apr 25.. PMID: 32775946;.PMCID: PMC7409950
Din L, Sheikh M, Kosaraju N, …, Offit K, …, Cozen W, Hjalgrim H, Khankhanian P. Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes. Genet Epidemiol.. 2019 Oct;43(7):844-863.. doi: 10.1002/gepi.22242.. Epub 2019 Aug 13.. PMID: 31407831;.PMCID: PMC6763347
Dörk T, Peterlongo P, Mannermaa A, …, Offit K, …, Schindler D, Devilee P, Easton DF. Two truncating variants in FANCC and breast cancer risk. Sci Rep.. 2019 Aug 29;9(1):12524.. doi: 10.1038/s41598-019-48804-y.. PMID: 31467304;.PMCID: PMC6715680
Fachal L, Aschard H, Beesley J, …, Offit K, …,Simard J, Easton DF, Kraft P, Dunning AM. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. Nat Genet.. 2020 Jan;52(1):56-73.. doi: 10.1038/s41588-019-0537-1.. Epub 2020 Jan 7.. PMID: 31911677;.PMCID: PMC6974400
Friebel TM, Andrulis IL, Balmaña J, …, Offit K, …, Huo D, Olopade OI, Rebbeck TR. BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry. Hum Mutat.. 2019 Oct;40(10):1781-1796.. doi: 10.1002/humu.23804.. Epub 2019 Jul 3.. PMID: 31112363;.PMCID: PMC6764847
Huyghe JR, Bien SA, Harrison TA, …, Offit K, …, Gruber SB, Hsu L, Peters U. Discovery of common and rare genetic risk variants for colorectal cancer. Nat Genet.. 2019 Jan;51(1):76-87.. doi: 10.1038/s41588-018-0286-6.. Epub 2018 Dec 3.. PMID: 30510241;.PMCID: PMC6358437
Jiang X, Finucane HK, Schumacher FR, …, Offit K, …, Amos CI, Kraft P, Lindström S. Shared heritability and functional enrichment across six solid cancers. Nat Commun.. 2019 Jan 25;10(1):431.. doi: 10.1038/s41467-018-08054-4.. Erratum in: Nat Commun.. 2019 Sep 23;10(1):4386.. PMID: 30683880;.PMCID: PMC6347624
(*) Latham A, Srinivasan P, Kemel Y, …, Offit K, Berger MF, Stadler ZK. Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. J Clin Oncol.. 2019 Feb 1;37(4):286-295.. doi: 10.1200/JCO.18.00283.. Epub 2018 Oct 30.. Erratum in: J Clin Oncol.. 2019 Apr 10;37(11):942.. PMID: 30376427;.PMCID: PMC6553803
Mavaddat N, Michailidou K, Dennis J, …, Offit K, …, GarcÃa-Closas M, Simard J, Easton DF. Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes. Am J Hum Genet.. 2019 Jan 3;104(1):21-34.. doi: 10.1016/j.ajhg.2018.11.002.. Epub 2018 Dec 13.. PMID: 30554720;.PMCID: PMC6323553
Qian F, Rookus MA, Leslie G, …, Offit K, …, Chenevix-Trench G, Rebbeck TR, Huo D; CIMBA. Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers. Br J Cancer.. 2019 Jul;121(2):180-192.. doi: 10.1038/s41416-019-0492-8.. Epub 2019 Jun 19.. PMID: 31213659;.PMCID: PMC6738050
Qian F, Wang S, Mitchell J, …, Offit K, …, Olopade OI, Rebbeck TR, Huo D. Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study. J Natl Cancer Inst.. 2019 Apr 1;111(4):350-364.. doi: 10.1093/jnci/djy132.. PMID: 30312457;.PMCID: PMC6449171
(*) Rampersaud E, Ziegler DS, Iacobucci I, …, Offit K, …, Leventaki V, Wu G, Mullighan CG. Germline deletion of ETV6 in familial acute lymphoblastic leukemia. Blood Adv.. 2019 Apr 9;3(7):1039-1046.. doi: 10.1182/bloodadvances.2018030635.. PMID: 30940639;.PMCID: PMC6457220
(*) Ravichandran V, Shameer Z, Kemel Y, …, Offit K, Vijai J. Toward automation of germline variant curation in clinical cancer genetics. Genet Med.. 2019 Sep;21(9):2116-2125.. doi: 10.1038/s41436-019-0463-8.. Epub 2019 Feb 21.. Erratum in: Genet Med.. 2019 Mar 21;: PMID: 30787465;.PMCID: PMC6703969
(*) Schmit SL, Edlund CK, Schumacher FR, …, Offit K, …, Hsu L, Conti DV, Gruber SB. Novel Common Genetic Susceptibility Loci for Colorectal Cancer. J Natl Cancer Inst.. 2019 Feb 1;111(2):146-157.. doi: 10.1093/jnci/djy099.. PMID: 29917119;.PMCID: PMC6555904
(*) Walsh MF, Sacca R, Wildman T, …, Offit K. Pathogenic Loss-of-Function Germline TERT Mutations in Patients With Solid Tumors. JCO Precis Oncol.. 2019 Oct 23;3:PO.19.00230.. doi: 10.1200/PO.19.00230.. PMID: 32923861;.PMCID: PMC7446479
2020
Bolton KL, Ptashkin RN, Gao T,…, Offit K, …, Morton LM, Zehir A, Papaemmanuil E. Cancer therapy shapes the fitness landscape of clonal hematopoiesis. Nat Genet.. 2020 Nov;52(11):1219-1226.. doi: 10.1038/s41588-020-00710-0.. Epub 2020 Oct 26.. PMID: 33106634;.PMCID: PMC7891089
(*) Carlo MI, Ravichandran V, Srinavasan P, …, Offit K. Cancer Susceptibility Mutations in Patients With Urothelial Malignancies. J Clin Oncol.. 2020 Feb 10;38(5):406-414.. doi: 10.1200/JCO.19.01395.. Epub 2019 Dec 3.. PMID: 31794323;.PMCID: PMC7351337
(*) Cercek A, Dos Santos Fernandes G, Roxburgh CS, Ganesh K, Ng S, Sanchez-Vega F, Yaeger R, Segal NH, Reidy-Lagunes DL, Varghese AM, Markowitz A, Wu C, Szeglin B, Sauvé CG, Salo-Mullen E, Tran C, Patel Z, Krishnan A, Tkachuk K, Nash GM, Guillem J, Paty PB, Shia J, Schultz N, Garcia-Aguilar J, Diaz LA, Goodman K, Saltz LB, Weiser MR, Smith JJ, Stadler ZK. Mismatch Repair-Deficient Rectal Cancer and Resistance to Neoadjuvant Chemotherapy. Clin Cancer Res.. 2020 Jul 1;26(13):3271-3279.. doi: 10.1158/1078-0432.CCR-19-3728.. Epub 2020 Mar 6.. PMID: 32144135;.PMCID: PMC7348681
(*) Fiala EM, Ortiz MV, Kennedy JA, Glodzik D, Fleischut MH, Duffy KA, Hathaway ER, Heaton T, Gerstle JT, Steinherz P, Shukla N, McNeer N, Tkachuk K, Bouvier N, Cadoo K, Carlo MI, Latham A, Dubard Gault M, Joseph V, Kemel Y, Kentsis A, Stadler Z, La Quaglia M, Papaemmanuil E, Friedman D, Ganguly A, Kung A, Offit K, Kalish JM, Walsh MF. 11p15.5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood. Cancer.. 2020 Jul 1;126(13):3114-3121.. doi: 10.1002/cncr.32907.. Epub 2020 Apr 22.. PMID: 32320050;.PMCID: PMC7383476
(*) Ji X, Mukherjee S*, Landi MT, Bosse Y,….. McLaughlin J, Stevens V, Nickle DC, Obeidat M, Timens W, Artigas MS, Shete S, Brenner H, Chanock S, Brennan P, McKay JD, Amos CI Protein-altering germline mutations implicate novel genes related to lung cancer development. Nature Commun. 2020 May 11;11(1):2220. doi: 10.1038/s41467-020-15905-6.PMID: 32393777 (*key contribution)
(*)Offit K, …, Hamilton JG, Vijai J, Mukherjee S. Cascading After Peridiagnostic Cancer Genetic Testing: An Alternative to Population-Based Screening. J Clin Oncol.. 2020 May 1;38(13):1398-1408.. doi: 10.1200/JCO.19.02010.. Epub 2020 Jan 10.. PMID: 31922925;.PMCID: PMC7193752
(*) Selvan ME, Rudin CM, Jones S, Mukherjee S, Offit K, Onel K, Rennert G, Velculescu VE, Lipkin SM, Klein RJ, Gümüş ZH Inherited rare, deleterious variants in ATM increase lung adenocarcinoma risk. J Thorac Oncol. 2020 Aug 28:S1556-0864(20)30677-8. doi: 10.1016/j.jtho.2020.08.017 PMID: 32866655
(*) Topka S, Steinsnyder Z, Ravichandran V, …, Offit K. Targeting Germline- and Tumor-Associated Nucleotide Excision Repair Defects in Cancer. Clin Cancer Res. 2020 Nov 16. doi: 10.1158/1078-0432.CCR-20-3322. Epub ahead of print. PMID: 33199492.
(*) Yan Y, Drew DA, Markowitz A, Lloyd-Price J, Abu-Ali G, Nguyen LH, Tran C, Chung DC, Gilpin KK, Meixell D, Parziale M, Schuck M, Patel Z, Richter JM, Kelsey PB, Garrett WS, Chan AT, Stadler ZK, Huttenhower C. Structure of the Mucosal and Stool Microbiome in Lynch Syndrome. Cell Host Microbe.. 2020 Apr 8;27(4):585-600.e4.. doi: 10.1016/j.chom.2020.03.005.. Epub 2020 Apr 1.. PMID: 32240601;.PMCID: PMC7453618
(*) Morgan K, Symecko H, Kamara D, …, Offit K. The BRCA founder outreach study: Initial results of a digital health model. Journal of Clinical Oncology 38, no. 15_suppl (May 20, 2020) 2007-2007; https://ascopubs.org/doi/abs/10.1200/JCO.2020.38.15_suppl.2007
2021
Barnes DR, Silvestri V, Leslie G, …, Offit K, …, Chenevix-Trench G, Antoniou AC, Ottini L; Consortium of Investigators of Modifiers of BRCA1 and BRCA2. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores. J Natl Cancer Inst.. 2022 Jan 11;114(1):109-122.. doi: 10.1093/jnci/djab147.. PMID: 34320204;.PMCID: PMC8755508
Liu YL, Breen K, Catchings A, …, Offit K, Stadler ZK. Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes. JCO Oncol Pract.. 2022 Mar;18(3):201-209.. doi: 10.1200/OP.21.00382.. Epub 2021 Sep 28.. PMID: 34582274;.PMCID: PMC8932494
Dimou N, Mori N, Harlid S, …, Offit K, …, Weiderpass E, Gunter MJ, Murphy N. Circulating Levels of Testosterone, Sex Hormone Binding Globulin and Colorectal Cancer Risk: Observational and Mendelian Randomization Analyses. Cancer Epidemiol Biomarkers Prev.. 2021 Jul;30(7):1336-1348.. doi: 10.1158/1055-9965.EPI-20-1690.. Epub 2021 Apr 20.. PMID: 33879453;.PMCID: PMC8914241
Lakeman IMM, van den Broek AJ, Vos JAM, …, Offit K, …, Antoniou AC, Robson M, Schmidt MK. The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant. Genet Med.. 2021 Sep;23(9):1726-1737.. doi: 10.1038/s41436-021-01198-7.. Epub 2021 Jun 10.. PMID: 34113011;.PMCID: PMC8460445
Stadler ZK, Maio A, Chakravarty D, …, Offit K, Robson ME. Therapeutic Implications of Germline Testing in Patients With Advanced Cancers. J Clin Oncol.. 2021 Aug 20;39(24):2698-2709.. doi: 10.1200/JCO.20.03661.. Epub 2021 Jun 16.. PMID: 34133209;.PMCID: PMC8376329
Hamilton JG, Symecko H, Spielman K, …, Offit K, …, Carlo MI, Narayan V, Reiss KA, Robson ME, Domchek SM. Uptake and acceptability of a mainstreaming model of hereditary cancer multigene panel testing among patients with ovarian, pancreatic, and prostate cancer. Genet Med.. 2021 Nov;23(11):2105-2113.. doi: 10.1038/s41436-021-01262-2.. Epub 2021 Jul 13.. PMID: 34257420;.PMCID: PMC8556289
Park HA, Neumeyer S, Michailidou K, …, Offit K, …, Zheng W, Kraft P, Chang-Claude J. Mendelian randomisation study of smoking exposure in relation to breast cancer risk. Br J Cancer.. 2021 Oct;125(8):1135-1145.. doi: 10.1038/s41416-021-01432-8.. Epub 2021 Aug 2.. PMID: 34341517;.PMCID: PMC8505411
Liu YL, Cadoo KA, Mukherjee S, …, Offit K. Multiple Primary Cancers in Patients Undergoing Tumor-Normal Sequencing Define Novel Associations. Cancer Epidemiol Biomarkers Prev.. 2022 Feb;31(2):362-371.. doi: 10.1158/1055-9965.EPI-21-0820.. Epub 2021 Nov 22.. PMID: 34810208;.PMCID: PMC8825750
Srinivasan P, Bandlamudi C, Jonsson P, …, Offit K, Robson ME, Solit DB, Stadler ZK, Berger MF, Taylor BS. The context-specific role of germline pathogenicity in tumorigenesis. Nat Genet.. 2021 Nov;53(11):1577-1585.. doi: 10.1038/s41588-021-00949-1.. Epub 2021 Nov 5.. PMID: 34741162;.PMCID: PMC8957388
Ceyhan-Birsoy O, Selenica P, Chui MH, …, Offit K, Ladanyi M, Walsh M, Reis-Filho JS, Mandelker D. Paired Tumor-Normal Sequencing Provides Insights Into the TP53-Related Cancer Spectrum in Patients With Li-Fraumeni Syndrome. J Natl Cancer Inst.. 2021 Nov 29;113(12):1751-1760.. doi: 10.1093/jnci/djab117.. PMID: 34240179;.PMCID: PMC9891110
Maxwell KN, Cheng HH, Powers J, …, Offit K, …, Sartor O, Walsh MF, Pritchard CC. Inherited TP53 Variants and Risk of Prostate Cancer. Eur Urol.. 2022 Mar;81(3):243-250.. doi: 10.1016/j.eururo.2021.10.036.. Epub 2021 Dec 1.. PMID: 34863587;.PMCID: PMC8891030
Truong H, Sheikh R, Kotecha R, …, Offit K, Patil S, Carlo MI. Germline Variants Identified in Patients with Early-onset Renal Cell Carcinoma Referred for Germline Genetic Testing. Eur Urol Oncol.. 2021 Dec;4(6):993-1000.. doi: 10.1016/j.euo.2021.09.005.. Epub 2021 Oct 12.. PMID: 34654685;.PMCID: PMC8688197
2022
Breen KE, Tuman M, Bertelsen CE, …, Offit K, Stadler ZK, Salo-Mullen EE, Hamilton JG. Factors Influencing Patient Preferences for Telehealth Cancer Genetic Counseling During the COVID-19 Pandemic. JCO Oncol Pract.. 2022 Apr;18(4):e462-e471.. doi: 10.1200/OP.21.00301.. Epub 2021 Oct 15.. PMID: 34652959;.PMCID: PMC9014422
Pareja F, Ptashkin RN, Brown DN, …, Offit K, Stadler ZK, Robson ME, Reis-Filho JS, Mandelker D. Cancer-Causative Mutations Occurring in Early Embryogenesis. Cancer Discov.. 2022 Apr 1;12(4):949-957.. doi: 10.1158/2159-8290.CD-21-1110.. PMID: 34949653;.PMCID: PMC8983494
Liu YL, Cadoo KA, Maio A, …, Offit K, Stadler ZK, Latham A. Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome. Genet Med.. 2022 Jun;24(6):1187-1195.. doi: 10.1016/j.gim.2022.02.016.. Epub 2022 Mar 26.. PMID: 35346574;.PMCID: PMC9942243
Mukherjee S, Bandlamudi C, Hellmann MD, …, Offit K. Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer. Cancer Epidemiol Biomarkers Prev.. 2022 Jul 1;31(7):1450-1459.. doi: 10.1158/1055-9965.EPI-21-1287.. PMID: 35477182;.PMCID: PMC9250622
Ceyhan-Birsoy O, Jayakumaran G, Kemel Y, …, Offit K, …, Latham A, Zehir A, Mandelker D. Diagnostic yield and clinical relevance of expanded genetic testing for cancer patients. Genome Med.. 2022 Aug 15;14(1):92.. doi: 10.1186/s13073-022-01101-2.. PMID: 35971132;.PMCID: PMC9377129
Grootes I, Keeman R, Blows FM, …, Offit K, …, Schmidt MK, García-Closas M, Pharoah PDP. Incorporating progesterone receptor expression into the PREDICT breast prognostic model. Eur J Cancer. 2022 Sep;173:178-193. doi: 10.1016/j.ejca.2022.06.011. Epub 2022 Aug 4. PMID: 35933885.
Dixon-Suen SC, Lewis SJ, Martin RM, …, Offit K, …, Easton DF, Milne RL, Lynch BM; Breast Cancer Association Consortium. Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study. Br J Sports Med.. 2022 Oct;56(20):1157-1170.. doi: 10.1136/bjsports-2021-105132.. Epub 2022 Sep 6.. PMID: 36328784;.PMCID: PMC9876601
Pietzak EJ, Whiting K, Srinivasan P, …, Offit K, …, Bajorin DF, Carlo M, Bochner BH. Inherited Germline Cancer Susceptibility Gene Variants in Individuals with Non-Muscle-Invasive Bladder Cancer. Clin Cancer Res.. 2022 Oct 3;28(19):4267-4277.. doi: 10.1158/1078-0432.CCR-22-1006.. PMID: 35833951;.PMCID: PMC9527498
Hakkaart C, Pearson JF, Marquart L, …, Offit K, …, Spurdle AB, Antoniou AC, Walker LC. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers. Commun Biol.. 2022 Oct 6;5(1):1061.. doi: 10.1038/s42003-022-03978-6.. PMID: 36203093;.PMCID: PMC9537519
Liu YL, Maio A, Kemel Y…, Offit K, Hamilton JG, Stadler ZK. Disparities in cancer genetics care by race/ethnicity among pan-cancer patients with pathogenic germline variants. Cancer. 2022 Nov 1;128(21):3870-3879. doi: 10.1002/cncr.34434. Epub 2022 Aug 30. PMID: 36041233.
2023
Offit K, Sharkey CM, Green D, Wu X, Trottier M, Hamilton JG, Walsh MF, Dandiker S, Belhadj S, Lipkin SM, Sugrañes TA, Caggana M, Stadler ZK. Regulation of Laboratory-Developed Tests in Preventive Oncology: Emerging Needs and Opportunities. J Clin Oncol. 2023 Jan 1;41(1):11-21. doi: 10.1200/JCO.22.00995. Epub 2022 Aug 9. PMID: 35944238.
Mandelker D, Marra A, Mehta N, …, Offit K, …, Chi P, Reis-Filho JS, Ceyhan-Birsoy O. Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations. NPJ Precis Oncol. 2023 Jan 2;7(1):1. doi: 10.1038/s41698-022-00342-z. PMID: 36593350; PMCID: PMC9807588.
Belhadj S, Khurram A, Bandlamudi C, …, Offit K. NBN Pathogenic Germline Variants are Associated with Pan-Cancer Susceptibility and In Vitro DNA Damage Response Defects. Clin Cancer Res.. 2023 Jan 17;29(2):422-431.. doi: 10.1158/1078-0432.CCR-22-1703.. PMID: 36346689;.PMCID: PMC9843434
Mueller SH, Lai AG, Valkovskaya M, …, Offit K, …, Hemingway H, Hamann U, Kuchenbaecker KB. Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry. Genome Med. 2023 Jan 26;15(1):7. doi: 10.1186/s13073-022-01152-5. PMID: 36703164;
Gordhandas S, Rios-Doria E, Cadoo KA, …, Offit K, …, Weigelt B, Mandelker DL, Liu YL. Comprehensive Analysis of Germline Drivers in Endometrial Cancer. J Natl Cancer Inst. 2023 Feb 6:djad016. doi: 10.1093/jnci/djad016. Epub ahead of print. PMID: 36744932.
Lu Y, Zhao YC, Chang-Claude J, …, Offit K, …, Phipps AI, Peters U, Song M. Genetic Predictors for Fecal Propionate and Butyrate-Producing Microbiome Pathway Are Not Associated with Colorectal Cancer Risk: A Mendelian Randomization Analysis. Cancer Epidemiol Biomarkers Prev. 2023 Feb 6;32(2):281-286. doi: 10.1158/1055-9965.EPI-22-0861. PMID: 36512731; PMCID: PMC9905300. PMCID: PMC9878779.
Prosz A, Duan H, Tisza V, …, Offit K, …, Spisak S, Pathania S, Szallasi Z. Nucleotide excision repair deficiency is a targetable therapeutic vulnerability in clear cell renal cell carcinoma. bioRxiv [Preprint]. 2023 Feb 7:2023.02.07.527498. doi: 10.1101/2023.02.07.527498. PMID: 36798363; PMCID: PMC9934582.
2024
Liu YL, Gordhandas S, Arora K, …, Offit K, …, Weigelt B, Aghajanian C, Brown C. Pathogenic germline variants in patients with endometrial cancer of diverse ancestry. Cancer. 2024 Feb 15;130(4):576-587. doi: 10.1002/cncr.35071. Epub 2023 Oct 27. PMID: 37886874; PMCID: PMC10922155.
Prosz A, Duan H, Tisza V, …, Offit K., …, Spisak S, Pathania S, Szallasi Z. Nucleotide excision repair deficiency is a targetable therapeutic vulnerability in clear cell renal cell carcinoma. Sci Rep.. 2023 Nov 23;13(1):20567.. doi: 10.1038/s41598-023-47946-4.. PMID: 37996508;.PMCID: PMC10667362
Kahn RM, Selenica P, Boerner T, …, Offit K, …, Sabbatini P, Weigelt B, Liu YL. Pathogenic germline variants in non-BRCA1/2 homologous recombination genes in ovarian cancer: Analysis of tumor phenotype and survival. Gynecol Oncol.. 2024 Jan;180:35-43.. doi: 10.1016/j.ygyno.2023.11.019.. Epub 2023 Dec 1.. PMID: 38041901;.PMCID: PMC10922242
Barnes DR, Tyrer JP, Dennis J…, Offit K, …, Gayther SA, Antoniou AC, Pharoah PDP. Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk. medRxiv [Preprint].. 2024 Mar 4:2024.02.29.24303243.. doi: 10.1101/2024.02.29.24303243.. PMID: 38496424;.PMCID: PMC10942532
Ceyhan-Birsoy O, Fiala E, Rana S, …, Offit K, …, Stadler ZK, Walsh MF, Mandelker D. Universal germline genetic testing in patients with hematologic malignancies using DNA isolated from nail clippings. Haematologica. 2024 Oct 1;109(10):3383-3390. doi: 10.3324/haematol.2024.285055. PMID: 38572560; PMCID: PMC11443390.
Miranda J, Dave P, Kemel Y, Sheikh R, Zong G, Calderon LP, Will M, Liu YL, Walsh M, Stadler ZK, Offit K, Latham A, Mandelker D, Chen YB, Andrieu PC, Carlo MI. Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series. Eur J Hum Genet. 2024 Aug;32(8):1027-1031. doi: 10.1038/s41431-024-01623-w. Epub 2024 Jun 1. PMID: 38824259; PMCID: PMC11291683.
Cheng HH, Shevach JW, Castro E, Couch FJ, Domchek SM, Eeles RA, Giri VN, Hall MJ, King MC, Lin DW, Loeb S, Morgan TM, Offit K, Pritchard CC, Schaeffer EM, Szymaniak BM, Vassy JL, Katona BW, Maxwell KN. BRCA1, BRCA2, and Associated Cancer Risks and Management for Male Patients: A Review. JAMA Oncol. 2024 Sep 1;10(9):1272-1281. doi: 10.1001/jamaoncol.2024.2185. Erratum in: JAMA Oncol. 2025 Feb 1;11(2):189. doi: 10.1001/jamaoncol.2024.6584. PMID: 39052257; PMCID: PMC12080741.
Trottier M, Green D, Ovadia H, Catchings A, Gruberg J, Groner V, Fanjoy C, Dandiker S, Blazer K, Hamilton JG, Offit K. Genetics healthcare providers’ experiences counseling patients with results from consumer genomic testing. Mol Genet Genomic Med. 2024 Aug;12(8):e2508. doi: 10.1002/mgg3.2508. PMID: 39140689; PMCID: PMC11322993.
2025
Mitchell J, Camacho N, Shea P, …, Offit K, Mucci LA, Pomerantz M, Fabre MA. Assessing the contribution of rare protein-coding germline variants to prostate cancer risk and severity in 37,184 cases. Nat Commun. 2025 Feb 19;16(1):1779. doi: 10.1038/s41467-025-56944-1. PMID: 39971927; PMCID: PMC11839991.
Moore A, Kane E, Teras LR, …, Offit K, …, Birmann BM, Cerhan JR, Berndt SI. Genetically determined body mass index is associated with diffuse large B-cell lymphoma in polygenic and Mendelian randomization analyses. Int J Cancer. 2026 Jan 1;158(1):45-59. doi: 10.1002/ijc.70039. Epub 2025 Sep 5. PMID: 40910475; PMCID: PMC12588556.