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BRCA1 and BRCA2 germline mutations are frequently demonstrated in both high-risk pancreatic cancer screening and pancreatic cancer cohorts.

Lucas AL, Frado LE, Hwang C, Kumar S, Khanna LG, Levinson EJ, Chabot JA, Chung WK, Frucht H.

Cancer. 2014 Jul 1;120(13):1960-7. doi: 10.1002/cncr.28662. Epub 2014 Apr 15.


Genetic Predisposition to Breast Cancer Due to Mutations Other Than BRCA1 and BRCA2 Founder Alleles Among Ashkenazi Jewish Women.

Walsh T, Mandell JB, Norquist BM, Casadei S, Gulsuner S, Lee MK, King MC.

JAMA Oncol. 2017 Dec 1;3(12):1647-1653. doi: 10.1001/jamaoncol.2017.1996.


Statewide Retrospective Review of Familial Pancreatic Cancer in Delaware, and Frequency of Genetic Mutations in Pancreatic Cancer Kindreds.

Catts ZA, Baig MK, Milewski B, Keywan C, Guarino M, Petrelli N.

Ann Surg Oncol. 2016 May;23(5):1729-35. doi: 10.1245/s10434-015-5026-x. Epub 2016 Jan 4.


Germline BRCA Mutations in a Large Clinic-Based Cohort of Patients With Pancreatic Adenocarcinoma.

Holter S, Borgida A, Dodd A, Grant R, Semotiuk K, Hedley D, Dhani N, Narod S, Akbari M, Moore M, Gallinger S.

J Clin Oncol. 2015 Oct 1;33(28):3124-9. doi: 10.1200/JCO.2014.59.7401. Epub 2015 May 4.


High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions.

Lucas AL, Shakya R, Lipsyc MD, Mitchel EB, Kumar S, Hwang C, Deng L, Devoe C, Chabot JA, Szabolcs M, Ludwig T, Chung WK, Frucht H.

Clin Cancer Res. 2013 Jul 1;19(13):3396-403. doi: 10.1158/1078-0432.CCR-12-3020. Epub 2013 May 8.


Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.

Satagopan JM, Boyd J, Kauff ND, Robson M, Scheuer L, Narod S, Offit K.

Clin Cancer Res. 2002 Dec;8(12):3776-81.


Inherited predisposition to pancreatic adenocarcinoma: role of family history and germ-line p16, BRCA1, and BRCA2 mutations.

Lal G, Liu G, Schmocker B, Kaurah P, Ozcelik H, Narod SA, Redston M, Gallinger S.

Cancer Res. 2000 Jan 15;60(2):409-16.


Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry.

Rosenthal E, Moyes K, Arnell C, Evans B, Wenstrup RJ.

Breast Cancer Res Treat. 2015 Jan;149(1):223-7. doi: 10.1007/s10549-014-3218-x. Epub 2014 Dec 6. Erratum in: Breast Cancer Res Treat. 2015 May;151(1):233.


The 1100delAT BRCA1 and the 8765delAG BRCA2 mutations: occurrence in high-risk non-Ashkenazi Jews and haplotype comparison of Jewish and non-Jewish carriers.

Gal I, Gershoni Baruch R, Haber D, Dagan E, Eisenberg-Barzilai S, Zidan J, Friedman E.

Fam Cancer. 2004;3(1):11-4.


Germline BRCA mutations in Asian patients with pancreatic adenocarcinoma: a prospective study evaluating risk category for genetic testing.

Lee K, Yoo C, Kim KP, Park KJ, Chang HM, Kim TW, Lee JL, Lee W, Lee SS, Park DH, Song TJ, Seo DW, Lee SK, Kim MH, Shin SH, Hwang DW, Song KB, Lee JH, Kim SC, Ryoo BY.

Invest New Drugs. 2018 Feb;36(1):163-169. doi: 10.1007/s10637-017-0497-1. Epub 2017 Aug 7.


Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer.

Hodgson SV, Heap E, Cameron J, Ellis D, Mathew CG, Eeles RA, Solomon E, Lewis CM.

J Med Genet. 1999 May;36(5):369-73.


Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial.

Manchanda R, Loggenberg K, Sanderson S, Burnell M, Wardle J, Gessler S, Side L, Balogun N, Desai R, Kumar A, Dorkins H, Wallis Y, Chapman C, Taylor R, Jacobs C, Tomlinson I, McGuire A, Beller U, Menon U, Jacobs I.

J Natl Cancer Inst. 2014 Nov 30;107(1):379. doi: 10.1093/jnci/dju379. Print 2015 Jan.


Identification of germline genetic mutations in patients with pancreatic cancer.

Salo-Mullen EE, O'Reilly EM, Kelsen DP, Ashraf AM, Lowery MA, Yu KH, Reidy DL, Epstein AS, Lincoln A, Saldia A, Jacobs LM, Rau-Murthy R, Zhang L, Kurtz RC, Saltz L, Offit K, Robson ME, Stadler ZK.

Cancer. 2015 Dec 15;121(24):4382-8. doi: 10.1002/cncr.29664. Epub 2015 Oct 6.


Analysis of Founder Mutations in Rare Tumors Associated With Hereditary Breast/Ovarian Cancer Reveals a Novel Association of BRCA2 Mutations with Ampulla of Vater Carcinomas.

Pinto P, Peixoto A, Santos C, Rocha P, Pinto C, Pinheiro M, Le├ža L, Martins AT, Ferreira V, Bartosch C, Teixeira MR.

PLoS One. 2016 Aug 17;11(8):e0161438. doi: 10.1371/journal.pone.0161438. eCollection 2016.


Similar prevalence of founder BRCA1 and BRCA2 mutations among Ashkenazi and non-Ashkenazi men with breast cancer: evidence from 261 cases in Israel, 1976-1999.

Chodick G, Struewing JP, Ron E, Rutter JL, Iscovich J.

Eur J Med Genet. 2008 Mar-Apr;51(2):141-7. Epub 2007 Nov 22.


Comparable frequency of BRCA1, BRCA2 and TP53 germline mutations in a multi-ethnic Asian cohort suggests TP53 screening should be offered together with BRCA1/2 screening to early-onset breast cancer patients.

Lee DS, Yoon SY, Looi LM, Kang P, Kang IN, Sivanandan K, Ariffin H, Thong MK, Chin KF, Mohd Taib NA, Yip CH, Teo SH.

Breast Cancer Res. 2012 Apr 16;14(2):R66.


Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals.

Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, Critchfield GC.

J Clin Oncol. 2002 Mar 15;20(6):1480-90.


Two patients with germline mutations in both BRCA1 and BRCA2 discovered unintentionally: a case series and discussion of BRCA testing modalities.

Augustyn AM, Agostino NM, Namey TL, Nair S, Martino MA.

Breast Cancer Res Treat. 2011 Sep;129(2):629-34. doi: 10.1007/s10549-011-1597-9. Epub 2011 May 24.


Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer.

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.

Cancer. 2012 Jan 15;118(2):493-9. doi: 10.1002/cncr.26191. Epub 2011 May 19.

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