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

Cancer

Volumn 120, Issue 13, 2014, Pages 1960-1967

  Lucas, Aimee L ^a   Frado, Laura E ^b,c   Hwang, Caroline ^d   Kumar, Sheila ^e   Khanna, Lauren G ^b,c   Levinson, Elana J ^b,c   Chabot, John A ^b,c   Chung, Wendy K ^b,c   Frucht, Harold ^b,c  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b NewYork Presbyterian Hospital   (United States)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^e STANFORD UNIVERSITY   (United States)

Author keywords

BRCA1 gene; BRCA2 gene; diagnosis; genetic testing; pancreatic cancer; pancreatic cancer screening; pancreatic neoplasms

Indexed keywords

ADULT; ALCOHOL CONSUMPTION; ARTICLE; BLOOD CELL COUNT; CANCER RISK; CANCER SCREENING; COHORT ANALYSIS; CONTROLLED STUDY; ETHNICITY; FAMILY HISTORY; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC SCREENING; GERMLINE MUTATION; HETEROZYGOTE; HUMAN; JEW; MAGNETIC RESONANCE CHOLANGIOPANCREATOGRAPHY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCREAS ADENOCARCINOMA; PREDICTION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; TOBACCO USE; TUMOR SUPPRESSOR GENE;

BRCA1 GENE; BRCA2 GENE; DIAGNOSIS; GENETIC TESTING; PANCREATIC CANCER; PANCREATIC CANCER SCREENING; PANCREATIC NEOPLASMS;

ADULT; AGED; BRCA1 PROTEIN; BRCA2 PROTEIN; CARCINOMA, PANCREATIC DUCTAL; COHORT STUDIES; EARLY DETECTION OF CANCER; FEMALE; FOUNDER EFFECT; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; GERM-LINE MUTATION; HUMANS; JEWS; MALE; MASS SCREENING; MIDDLE AGED; PANCREATIC NEOPLASMS; RISK ASSESSMENT; RISK FACTORS;

EID: 84902547138     PISSN: 0008543X     EISSN: 10970142     Source Type: Journal    
DOI: 10.1002/cncr.28662     Document Type: Article

References (30)

1. American Cancer Society. Cancer Facts & Figures 2013. Atlanta, GA: American Cancer Society; 2013.
2. Klein AP, Hruban RH, Brune KA, Petersen GM, Goggins M,. Familial pancreatic cancer. Cancer J. 2001; 7: 266-273.
3. Lowenfels AB, Maisonneuve P, DiMagno EP, et al. Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. J Natl Cancer Inst. 1997; 89: 442-446.
4. Giardiello F, Brensinger J, Tersmette A, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000; 119: 1447-1453.
5. Vasen HF, Wasser M, van Mil A, et al. Magnetic resonance imaging surveillance detects early-stage pancreatic cancer in carriers of a p16-Leiden mutation. Gastroenterology. 2011; 140: 850-856.
6. Goldstein AM,. Familial melanoma, pancreatic cancer and germline CDKN2A mutations. Hum Mutat. 2004; 23: 630.
7. Vinarsky V, Fine RL, Assaad A, et al. Head and neck squamous cell carcinoma in FAMMM syndrome. Head Neck. 2009; 31: 1524-1527.
8. Lynch HT, Fusaro RM, Lynch JF, et al. Pancreatic cancer and the FAMMM syndrome. Fam Cancer. 2008; 7: 103-112.
9. Vasen HF, Gruis NA, Frants RR, et al. Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). Int J Cancer. 2000; 87: 809-811.
10. Lynch HT, Voorhees GJ, Lanspa SJ, et al. Pancreatic carcinoma and hereditary nonpolyposis colorectal cancer: a family study. Br J Cancer. 1985; 52: 271-273.
11. Umar A, Boland CR, Terdiman JP, et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 2004; 96: 261-268.
12. Kastrinos F, Mukherjee B, Tayob N, et al. Risk of pancreatic cancer in families with Lynch syndrome. JAMA. 2009; 302: 1790-1795.
13. Lucas AL, Shakya R, Lipsyc MD, et al. High prevalence of BRCA1 and BRCA2 germline mutations with loss of heterozygosity in a series of resected pancreatic adenocarcinoma and other neoplastic lesions. Clin Cancer Res. 2013; 19: 3396-3403.
14. Hahn SA, Greenhalf B, Ellis I, et al. BRCA2 germline mutations in familial pancreatic carcinoma. J Natl Cancer Inst. 2003; 95: 214-221.
15. Murphy KM, Brune KA, Griffin C, et al. Evaluation of candidate genes MAP2K4, MADH4, ACVR1B, and BRCA2 in familial pancreatic cancer: deleterious BRCA2 mutations in 17%. Cancer Res. 2002; 62: 3789-3793.
16. Couch FJ, Johnson MR, Rabe KG, et al. The prevalence of BRCA2 mutations in familial pancreatic cancer. Cancer Epidemiol Biomarkers Prev. 2007; 16: 342-346.
17. Goggins M, Schutte M, Lu J, et al. Germline BRCA2 gene mutations in patients with apparently sporadic pancreatic carcinomas. Cancer Res. 1996; 56: 5360-5364.
18. Thompson D, Easton DF,. Cancer incidence in BRCA1 mutation carriers. J Natl Cancer Inst. 2002; 94: 1358-1365.
19. Ferrone CR, Levine DA, Tang LH, et al. BRCA germline mutations in Jewish patients with pancreatic adenocarcinoma. J Clin Oncol. 2009; 27: 433-438.
20. Al-Sukhni W, Rothenmund H, Borgida AE, et al. Germline BRCA1 mutations predispose to pancreatic adenocarcinoma. Hum Genet. 2008; 124: 271-278.
21. Axilbund JE, Argani P, Kamiyama M, et al. Absence of germline BRCA1 mutations in familial pancreatic cancer patients. Cancer Biol Ther. 2009; 8: 131-135.
22. Verna EC, Hwang C, Stevens PD, et al. Pancreatic cancer screening in a prospective cohort of high-risk patients: a comprehensive strategy of imaging and genetics. Clin Cancer Res. 2010; 16: 5028-5037.
23. Canto MI, Goggins M, Hruban RH, et al. Screening for early pancreatic neoplasia in high-risk individuals: a prospective controlled study. Clin Gastroenterol Hepatol. 2006; 4: 766-781; quiz 665.
24. Canto MI, Hruban RH, Fishman EK, et al. American Cancer of the Pancreas Screening (CAPS) Consortium. Frequent detection of pancreatic lesions in asymptomatic high-risk individuals. Gastroenterology. 2012; 142: 796-804; quiz e14-e15.
25. Poley JW, Kluijt I, Gouma DJ, et al. The yield of first-time endoscopic ultrasonography in screening individuals at a high risk of developing pancreatic cancer. Am J Gastroenterol. 2009; 104: 2175-2181.
26. Brentnall TA, Bronner MP, Byrd DR, Haggitt RC, Kimmey MB,. Early diagnosis and treatment of pancreatic dysplasia in patients with a family history of pancreatic cancer. Ann Intern Med. 1999; 131: 247-255.
27. Canto MI, Harinck F, Hruban RH, et al. International Cancer of Pancreas Screening (CAPS) Consortium. International Cancer of the Pancreas Screening (CAPS) Consortium summit on the management of patients with increased risk for familial pancreatic cancer. Gut. 2013; 62: 339-347.
28. American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol. 2003; 21: 2397-2406.
29. Bryant HE, Schultz N, Thomas HD, et al. Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase. Nature. 2005; 434: 913-917.
30. Tutt A, Robson M, Garber JE, et al. Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial. Lancet. 2010; 376: 235-244.