Kenneth Offit: Publications

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Kenneth Offit: Publications

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Wei X, Calvo-Vidal MN, Chen S, Wu G, Revuelta MV, Sun J, Zhang J, Walsh MF, Nichols KE, Joseph V, Snyder C, Vachon CM, McKay JD, Wang SP, Jayabalan DS, Jacobs LM, Becirovic D, Waller RG, Artomov M, Viale A, Patel J, Phillip J, Chen-Kiang S, Curtin K, Salama M, Atanackovic D, Niesvizky R, Landgren O, Slager SL, Godley LA, Churpek J, Garber JE, Anderson KC, Daly MJ, Roeder RG, Dumontet C, Lynch HT, Mullighan CG, Camp NJ, Offit K, Klein RJ, Yu H, Cerchietti L, Lipkin SM. Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma. Cancer Res. 2018 May 15;78(10):2747-2759.

Katona BW, Yurgelun MB, Garber JE, Offit K, Domchek SM, Robson ME, Stadler ZK. A counseling framework for moderate-penetrance colorectal cancer susceptibility genes. Genet Med. 2018 Mar 1.

Walsh MF, Kennedy J, Harlan M, Kentsis A, Shukla N, Musinsky J, Roberts S, Kung AL, Robson M, Kushner BH, Meyers P, 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).

Mandelker D, Zhang L, Kemel Y, Stadler ZK, Joseph V, Zehir A, Pradhan N, Arnold A, Walsh MF, Li Y, Balakrishnan AR, Syed A, Prasad M, Nafa K, Carlo MI, Cadoo KA, Sheehan M, Fleischut MH, Salo-Mullen E, Trottier M, Lipkin SM, Lincoln A, Mukherjee S, Ravichandran V, Cambria R, Galle J, Abida W, Arcila ME, Benayed R, Shah R, Yu K, Bajorin DF, Coleman JA, Leach SD, Lowery MA, Garcia-Aguilar J, Kantoff PW, Sawyers CL, Dickler MN, Saltz L, Motzer RJ, O’Reilly EM, Scher HI, Baselga J, Klimstra DS, Solit DB, Hyman DM, Berger MF, Ladanyi M, Robson ME, 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

Hamilton JG, Shuk E, Genoff MC, Rodríguez VM, Hay JL, Offit K, Robson ME. Interest and Attitudes of Patients With Advanced Cancer With Regard to Secondary Germline Findings From Tumor Genomic Profiling. J Oncol Pract. 2017 Jul;13(7):e590-e601.

Michael F. Walsh, Jennifer Kennedy, Megan Harlan, Alex Kentsis, Neerav Shukla, Jacob Musinsky, Stephen Roberts, Andrew L. Kung, Mark Robson, Brian H. Kushner, Paul Meyers and Kenneth Offit. Germline BRCA2 mutations detected in pediatric sequencing studies impact parents’ evaluation and care. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii: a001925.

Kenneth Offit. Decade in review—genomics: A decade of discovery in cancer genomics. Nat Rev Clin Oncol. 2014 Nov;11(11):632-4. Doi: 10.1038/nrclinonc.2014.170

Vignesh Ravichandran, Zarina Shameer, Yelena Kemel, Michael Walsh, Karen Cadoo, Steven Lipkin, Diana Mandelker, Liying Zhang, Zsofia Stadler, Mark Robson, Kenneth Offit, Vijai Joseph. Towards automation of germline variant curation in clinical cancer genetics. bioRxviv. doi: 10.1101/295865

Vijai J, Topka S, Villano D, Ravichandran V, Maxwell KN, Maria A, Thomas T, Gaddam P, Lincoln A, Kazzaz S, Wenz B, Carmi S, Schrader KA, Hart SN, Lipkin SM, Neuhausen SL, Walsh MF, Zhang L, Lejbkowicz F, Rennert H, Stadler ZK, Robson M, Weitzel JN, Domchek S, Daly MJ, Couch FJ, Nathanson KL, Norton L, Rennert G, Offit K. A Recurrent ERCC3 Truncating Mutation Confers Moderate Risk for Breast Cancer. Cancer Discov. 2016 Nov;6(11):1267-1275.

Offit K. The future of clinical cancer genomics. Semin Oncol. 2016 Oct;43(5):615-622.

Tung N, Domchek SM, Stadler Z, Nathanson KL, Couch F, Garber JE, Offit K, Robson ME. Counselling framework for moderate-penetrance cancer-susceptibility mutations. Nat Rev Clin Oncol. 2016 Sep;13(9):581-8.

Pritchard CC, Mateo J, Walsh MF, De Sarkar N, Abida W, Beltran H, Garofalo A, Gulati R, Carreira S, Eeles R, Elemento O, Rubin MA, Robinson D, Lonigro R, Hussain M, Chinnaiyan A, Vinson J, Filipenko J, Garraway L, Taplin ME, AlDubayan S, Han GC, Beightol M, Morrissey C, Nghiem B, Cheng HH, Montgomery B, Walsh T, Casadei S, Berger M, Zhang L, Zehir A, Vijai J, Scher HI, Sawyers C, Schultz N, Kantoff PW, Solit D, Robson M, Van Allen EM, Offit K, de Bono J, Nelson PS. Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. N Engl J Med. 2016 Aug 4;375(5):443-53.

Shah PD, Patil S, Dickler MN, Offit K, Hudis CA, Robson ME. Twenty-one-gene recurrence score assay in BRCA-associated versus sporadic breast cancers: Differences based on germline mutation status. Cancer. 2016 Apr 15;122(8):1178-84.

Sabine Topka, Joseph Vijai, Michael F. Walsh, Lauren Jacobs, Ann Maria, Danylo Villano, Pragna Gaddam, Gang Wu, Rose B. McGee, Emily Quinn, Hiroto Inaba, Christine Hartford, Ching-hon Pui, Alberto Pappo, Michael Edmonson, Michael Y. Zhang, Polina Stepensky, Peter Steinherz, Kasmintan Schrader, Anne Lincoln, James Bussel, Steve M. Lipkin, Yehuda Goldgur, Mira Harit, Zsofia K. Stadler, Charles Mullighan, Michael Weintraub, Akiko Shimamura, Jinghui Zhang, James R. Downing, Kim E. Nichols, Kenneth Offit. 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

Neuhausen SL, Gilewski T, Norton L, Tran T, McGuire P, Swensen J, Hampel H, Borgen P, Brown K, Skolnick M, Shattuck-Eidens D, Jhanwar S, Goldgar D, Offit K. Recurrent BRCA2*6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nature Genetics. 1996 May;13(1):126-8.

Offit K, Gilewski T, McGuire P, Schluger A, Brown K, Neuhausen S, Skolnick M, Norton L, Goldgar D. Germline BRCA1 185delAG mutations in Jewish women affected by breast cancer.  The Lancet. 1996 Jun 15;347(9016):1643-5.

Oddoux C, Struewing JP, Clayton CM, Neuhausen S, Brody LC, Kaback M, Haas B, Norton L, Borgen P, Jhanwar S, Goldgar D, Ostrer H, Offit K. The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%. Nature Genetics. 1996 Oct;14(2):188-90.

Laken SJ, Petersen GM, Gruber SB, Oddoux C, Ostrer H, Giardiello FM, Hamilton SR, Hampel H, Markowitz A, Klimstra D, Jhanwar S, Winawer S, Offit K, Luce MC, Kinzler KW, Vogelstein B. Familial colorectal cancer in Askenazim due to a hypermutable tract in APC. Nature Genetics. 1997 Sep;17(1):79-83.

Neuhausen SL, Godwin AK, Gershoni-Baruch R, Schubert E, Garber J, Stoppa-Lyonnet D, Olah E, Czokay B, Serova O, Lalico F, Osorio A, Stratton M, Offit K, Boyd J, Caligo MA, Scott RJ, Schofield A, Tengels E, Schwab M, Cannon-Albright L, Bishop T, Easton D, Benitez J, King MC, Ponder B AJ, Weber B, Devilee P, Borg A, Narod SA, Goldgar D. Haplotype/phenotype analysis of 9 recurrent BRCA2 mutations in 111 families: results of an international study. American Journal of Human Genetics. 1998 Jun;62(6):1381-8.

Redston M, Nathanson KC, Yuan ZQ, Neuhausen SL, Satagopan J, Wong N, Yang D, Nafa D, Abrahamson J, Ozcelik H, Antin-Ozerkis D, Andrulis I, Daly M, Pinsky L, Schrag D, Gallinger S, Kaback M, King M-C, Woodage T, Brody LC, Godwin A, Warner E, Weber B, Foulkes W, Offit K. The APC I1307K allele and breast cancer risk. Nature Genetics. 1998 Sep;20(1):13-4.

Robson M, Levin D, Federici M, Satagopan J, Bogolminy F, Heerdt A, Borgen P, McCormick BM, Hudis C, Norton L, Boyd J, Offit K. Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA founder mutations. Journal of the National Cancer Institute. 1999 Dec 15;91(24):2112-7.

Gruber SB, Ellis NA, Scott KK, Almog R, Kolachana P, Bonner JD, Kirchhoff T, Tomsho LP, Nafa K, Pierce H, Low M, Satagopan J, Rennert H, Huang H, Greenson JK, Groden J, Rapaport B, Shia J, Johnson S, Gregersen PK, Harris CC, Boyd J, Rennert G, Offit K. BLM heterozygosity and the risk of colorectal cancer. Science. 2002 Sep 20;297(5589):2013.

Satagopan JM, Boyd J, Kauff ND, Robson M, Scheuer L, Narod S, Offit K. Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Clinical Cancer Research. 2002 Dec; 8(12):3776-81.

Offit K, Gilad S, Paglin S, Kolachana P, Roisman LC, Nafa K, Yeugelewitz V, Gonzales  M, Guillem JG, Rapaport BS, Kirchhoff T, Kolachana P, Nafa K, Glogowski E, Finch R, Huang H, Foulkes WD, Markowitz A, Ellis NA, Offit K. A636P is associated with early-onset colon cancer in Ashkenazi Jews. Journal American College of Surgeons. 2003 Feb;196(2):222-5.

Offit K, Levran O, Mullaney B, Mah K, Nafa K, Batish SD, Diotti R, Schneider H, Deffenbaugh A, Scholl T, Proud VK, Robson M, Norton L, Ellis N, Hanenberg H, Auerbach AD.  Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. Journal of the National Cancer Institute. 2003 Oct 15;95(20):1548-51.

Kirchhoff T, Satagopan JM, Kauff ND, Huang H, Kolachana P, Palmer C, Rapaport H, Nafa K, Ellis NA, Offit K. Frequency of BRCA1 and BRCA2 mutations in unselected Ashkenazi Jewish patients with colorectal cancer. Journal of the National Cancer Institute. 2004 Jan 7;96(1):68-70.

Kirchhoff T, Kauff ND, Mitra N, Nafa K, Huang H, Palmer C, Gulati T, Donat S, Robson ME, Ellis NA, Offit K. BRCA mutations and risk of prostate cancer in Ashkenazi Jews. Clinical Cancer Research. 2004 May 1; 10(9):2918-21.

Robson ME, Chappuis PO, Satagopan J, Wong N, Boyd J, Goffin JR, Hudis C, Roberge D, Norton L, Begin LR, Offit K, Foulkes WD. A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Research. 2004;6(1):R8-R17.

Robson M, Svahn T, McCormick B, Borgen P, A Hudis C, Norton L, Offit K. Appropriateness of breast-conserving treatment of breast carcinoma in women with germline mutations in BRCA1 or BRCA2. Cancer. 2005 Jan 1;103(1):44-51.

Shaag A, Walsh T, Renbaum P, Kirchhoff T, Nafa K, Shiovitz S, Mandell JB, Welcsh P, Lee MK, Ellis N, Offit K, Levy-Lahad E, King MC. Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Human Molecular Genetics. 2005 Feb 15;14(4):555-63.

Olshen AB, Gold B, Lohmueller KE, Struewing JP, Satagopan J, Stefanov SA, Eskin E, Kirchhoff T, Lautenberger JA, Klein RJ, Friedman E, Norton L, Ellis NA, Viale A, Lee CS,  Borgen PI, Clark AG, Offit K, Boyd J. Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping. BMC Genetics. 2008 Feb 5;9:14.

Kauff ND, Satagopan JM, Robson ME, Scheuer L, Hensley M, Hudis CA, Ellis NA, Boyd J, Borgen PI, Barakat RR, Norton L, Castiel M, Nafa K, Offit K. Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation.  New England Journal of Medicine. 2002 May 23;346(21):1609-1615.

Gold B, Kirchhoff T, Stefanov S, Lautenberger J, Viale A, Garber J, Friedman E, Narod S, Olshen AB, Gregersen, Kosarin K, Olsh A, Bergeron J, Ellis NA, Klein RJ, Clark AG, Norton L, Dean M, Boyd J, Offit K. Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proceedings of the National Academy of Sciences (USA) 2008; 105(11):4340-45.

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. Identification and characterization of novel SNPs in CHEK2 in Ashkenazi Jewish men with prostate cancer. Cancer Letters. 2008 Oct 18; 270(1):173-180.

Kirchhoff T, Chen Z, Gold B, Pal P, Gaudet M, Kosarin K, Levine D, Gregersen P, Spencer S, Harlan M, Robson M, Klein R, Hudis C, Norton L, Dean M, Offit K. The 6q22.33 locus and breast cancer susceptibility. Cancer Epidemiology, Biomarkers and Prevention. 2009 Sep;18(9):2468-75.

Gallagher DJ, Gaudet MM, Pal P, Kirchhoff T, Balistreri L, Vora K, Bhatia J, Stadler Z, Fine SW, Reuter V, Zelefsky M, Morris MJ, Scher HI, Klein RJ, Norton L, Eastham JA, Scardino PT, Robson ME, Offit K. Germline BRCA mutations denote a clinicopathologic subset of prostate cancer. Clinical Cancer Research. 2010 Apr 1;16(7):2115-21.

Stadler ZK, Salo-Mullen E, Patil SM, Pietanza MC, Vijai J, Saloustros E, Hansen NA, Kauff ND, Kurtz RC, Kelsen DP, Offit K, Robson ME. Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer. Cancer. 2011 May 19;118(2):493-499.

Im KM, Kirchhoff T, Wang X, Green T, Chow CY, Vijai J, Korn J, Gaudet MM, Fredericksen Z, Shane Pankratz V, Guiducci C, Crenshaw A, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM, Mai PL, Greene MH, Piedmonte M, Rubinstein WS; HEBON, Hogervorst FB, Rookus MA, Collée JM, Hoogerbrugge N, van Asperen CJ, Meijers-Heijboer HE, Van Roozendaal CE, Caldes T, Perez-Segura P, Jakubowska A, Lubinski J, Huzarski T, Blecharz P, Nevanlinna H, Aittomäki K, Lazaro C, Blanco I, Barkardottir RB, Montagna M, D’Andrea E; kConFab, Devilee P, Olopade OI, Neuhausen SL, Peissel B, Bonanni B, Peterlongo P, Singer CF, Rennert G, Lejbkowicz F, Andrulis IL, Glendon G, Ozcelik H; Ontario Cancer Genetics Network, Toland AE, Caligo MA; SWE-BRCA, Beattie MS, Chan S; UKFOCR, Domchek SM, Nathanson KL, Rebbeck TR, Phelan C, Narod S, John EM, Hopper JL, Buys SS, Daly MB, Southey MC, Terry MB, Tung N, Hansen TV, Osorio A, Benitez J, Durán M, Weitzel JN, Garber J, Hamann U; EMBRACE, Peock S, Cook M, Oliver CT, Frost D, Platte R, Evans DG, Eeles R, Izatt L, Paterson J, Brewer C, Hodgson S, Morrison PJ, Porteous M, Walker L, Rogers MT, Side LE, Godwin AK, Schmutzler RK, Wappenschmidt B, Laitman Y, Meindl A, Deissler H, Varon-Mateeva R, Preisler-Adams S, Kast K, Venat-Bouvet L, Stoppa-Lyonnet D, Chenevix-Trench G, Easton DF, Klein RJ, Daly MJ, Friedman E, Dean M, Clark AG, Altshuler DM, Antoniou AC, Couch FJ, Offit K, Gold B. Haplotype structure in Ashkenazi Jewish BRCA1 and BRCA2 mutation carriers. Human Molecular Genetics. 2011 Nov;130(5):685-689. Epub 2011 May 20.

Comen E, Davids M, Kirchhoff T, Hudis C, Offit K, Robson M. Relative contributions of BRCA1 and BRCA2 mutations to “triple-negative” breast cancer in Ashkenazi Women. Breast Cancer Research and Treatment. 2011 Aug;129(1):185-90.

Vijai J, Kirchhoff T, Gallagher D, Hamel N, Guha S, Darvasi A, Lencz T, Foulkes WD, Offit K, Klein RJ. Genetic architecture of prostate cancer in the Ashkenazi Jewish population. British Journal of Cancer. 2011 Sep 6;105(6):864-9. Epub 2011 Aug 9.

Stadler ZK, Salo-Mullen E, Patil SM, Pietanza MC, Vijai J, Saloustros E, Hansen NA, Kauff ND, Kurtz RC, Kelsen DP, Offit K, Robson ME. Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer. Cancer. 2012 Jan 15;118(2):493-9. Epub 2011 May 19.

Gaudet M, Kirchhoff T, Green T, Vijai J, Korn JM, Guiducci C, Segrè AV, McGee K, McGuffog L, Kartsonaki C, Morrison J, Healey S, Sinilnikova OM,Stoppa-Lyonnet D , Mazoyer S, Gauthier-Villars M, Sobol H, Longy M, Frenay M, GEMO Study Collaborators, Hogervorst FBL, Rookus M, Collée JM, Hoogerbrugge N, van Roozendaal KEP, The Hereditary Breast and Ovarian Cancer Research Group Netherlands, Piedmonte M, Rubinstein W, Nerenstone S, Van Le L, Blank SV, Caldes T, de la Hoya M, Nevanlinna H, Aittomäki K, Lazaro C, Blanco I, Arason A, Johannsson OT, Barkardottir RB, Devilee P, Olopade OI, Neuhausen SL, Wang X, Fredericksen ZS, Peterlongo P, Manoukian S, Barile M, Viel A, Radice P, Phelan CM, Narod S, Rennert G, Lejbkowicz F, Flugelman A, Andrulis I, Glendon G, Ozcelik H, Toland AE, Montagna M, D’Andrea E, Friedman E, Laitman Y, Borg A, Beattie M, Ramus SJ, Domchek SM, Nathanson KL, Rebbeck T, Spurdle A, Chen X, Holland H, kConFab, John EM, Hopper JL, Buys SS, Daly MB, Southey MC,Terry MB, Tung N, Hansen TVO, Nielsen FC, Greene M, Mai PL, Osorio A, Duran M, Andres R, Benitez J, Weitzel JN, Garber J, Hamann U, Peock S, Cook M, Oliver C, Frost D, Platte R, Evans DG, Lalloo F, Eeles R, Izatt L, Walker L, Eason J, Barwell J, Godwin AK, Schmutzler RK, Wappenschmidt B, Engert S, Arnold N, Gadzicki D, Dean M, Gold B, Klein RJ, Couch FJ, Chenevix-Trench G, Easton DF,. Daly MJ, Antoniou AC, Altshuler DM, Offit K. Common Genetic Variants and Modification of Penetrance PLoS Genetics. 2010 October;6(10), e1001183.

Comen E, Balistreri L, Gönen M, Dutra-Clarke A, Fazio M, Vijai J, Stadler Z, Kauff N, Kirchhoff T, Hudis C, Offit K, Robson M. Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women. Breast Cancer Res Treat. 2011 Jun;127(2):479-87.

Robson M and Offit K. Management of women at hereditary risk for breast cancer. New England Journal of Medicine. 2007;357:154-62.

Offit K. Breast cancer single-nucleotide polymorphisms: statistical significance and clinical utility. Journal of the National Cancer Institute. 2009 Jul 15;101(14):973-5.

Best T, Li D, Skol AD, Kirchhoff T, Jackson SA, Yasui Y, Bhatia S, Strong LC, Domchek SM, Nathanson KL, Olopade OI, Huang RS, Mack TM, Conti DV, Offit K, Cozen W, Robison LL, Onel K. Variants at 6q21 implicate PRDM1 in the etiology of therapy-induced second malignancies after Hodgkin’s lymphoma. Nature Medicine. 2011 Jul 24;17(8):941-3.

Stadler Z, Esposito D, Shah S, Vijai J, Yamrom B, Levy D, Lee Y, Kendall J, Leotta A, Ronemus M, Hansen N, Sarrel K, Rau-Murthy R, Schrader K, Kauff N, Klein RJ, Lipkin SM, Murali R, Robson M, Sheinfeld J, Feldman D, Bosl G, Norton L, Wigler M, Offit K. Rare de novo germline copy-number variation in testicular cancer. American Journal of Human Genetics. 2012 Aug 10;91(2):379-83.

Alanee S, Couch F, Offit K. Association of HOXB13 variant with breast cancer. New England Journal of Medicine. 2012 Aug 2;367(5):480-1.

Offit K. Genomic profiles for disease risk: predictive or premature? JAMA. 2008 Mar 19;299:1353-5.

Offit K. Personalized medicine: new genomics, old lessons. Human Genetics. 2011 Jul;130(1):3-14.