BRCA1 and BRCA2 - update and implications on the genetics of breast cancer: A clinical perspective

Clinical Genetics

Volumn 85, Issue 1, 2014, Pages 1-4

  Foulkes, W D ^a  

^a MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CYCLOPHOSPHAMIDE; DOXORUBICIN; FLUOROURACIL; METHOTREXATE; ANTINEOPLASTIC AGENT;

ALLELE; BREAST CANCER; CANCER COMBINATION CHEMOTHERAPY; CANCER GENETICS; CANCER MORTALITY; CANCER RISK; DISEASE CARRIER; DNA REPAIR; FAMILY HISTORY; FIRST DEGREE RELATIVE; GENE MUTATION; GENETIC RISK; HIGH RISK POPULATION; HUMAN; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARIECTOMY; OVARY CANCER; OVARY CARCINOMA; PANCREAS CANCER; PERITONEUM CANCER; PRIORITY JOURNAL; PROSTATE CANCER; SALPINGOOOPHORECTOMY; SECOND DEGREE RELATIVE; SINGLE NUCLEOTIDE POLYMORPHISM; UTERINE TUBE; WOMEN'S HEALTH; BREAST TUMOR; CANCER GRADING; FEMALE; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; MORTALITY; OVARY TUMOR; REVIEW; RISK; TREATMENT OUTCOME; TUMOR SUPPRESSOR GENE;

ANTINEOPLASTIC COMBINED CHEMOTHERAPY PROTOCOLS; BREAST NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; NEOPLASM GRADING; OVARIAN NEOPLASMS; RISK; TREATMENT OUTCOME;

EID: 84890131723     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12291     Document Type: Note

References (50)

1. Miki Y, Swensen J, Shattuck-Eidens D et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994: 266 (5182): 66-71.
2. Futreal PA, Liu Q, Shattuck-Eidens D et al. BRCA1 mutations in primary breast and ovarian carcinomas. Science 1994: 266 (5182): 120-122.
3. Wooster R, Neuhausen SL, Mangion J et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994: 265 (5181): 2088-2090.
4. Kesselheim AS, Cook-Deegan RM, Winickoff DE, Mello MM. Gene patenting - the Supreme Court finally speaks. N Engl J Med 2013: 369 (9): 869-875.
5. Warner E, Foulkes W, Goodwin P et al. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer. J Natl Cancer Inst 1999: 91 (14): 1241-1247.
6. Chen S, Parmigiani G. Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 2007: 25 (11): 1329-1333.
7. Antoniou A, Pharoah PD, Narod S et al. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history: a combined analysis of 22 studies. Am J Hum Genet 2003: 72 (5): 1117-1130.
8. Mavaddat N, Peock S, Frost D et al. Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE. J Natl Cancer Inst 2013: 105 (11): 812-822.
9. Metcalfe K, Lubinski J, Lynch HT et al. Family history of cancer and cancer risks in women with BRCA1 or BRCA2 mutations. J Natl Cancer Inst 2010: 102 (24): 1874-1878.
10. Ozcelik H, Schmocker B, Di Nicola N et al. Germline BRCA2 6174delT mutations in Ashkenazi Jewish pancreatic cancer patients [letter]. Nat Genet 1997: 16 (1): 17-18.
11. van Asperen CJ, Brohet RM, Meijers-Heijboer EJ et al. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary. J Med Genet 2005: 42 (9): 711-719.
12. Stadler ZK, Salo-Mullen E, Patil SM et al. Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer. Cancer 2012: 118 (2): 493-499.
13. Iqbal J, Ragone A, Lubinski J et al. The incidence of pancreatic cancer in BRCA1 and BRCA2 mutation carriers. Br J Cancer 2012: 107 (12): 2005-2009.
14. Couch FJ, Johnson MR, Rabe KG et al. The prevalence of BRCA2 mutations in familial pancreatic cancer. Cancer Epidemiol Biomarkers Prev 2007: 16 (2): 342-346.
15. Hahn SA, Greenhalf B, Ellis I et al. BRCA2 germline mutations in familial pancreatic carcinoma. J Natl Cancer Inst 2003: 95 (3): 214-221.
16. Sonnenblick A, Kadouri L, Appelbaum L et al. Complete remission, in BRCA2 mutation carrier with metastatic pancreatic adenocarcinoma, treated with cisplatin based therapy. Cancer Biol Ther 2011: 12 (3): 165-168.
17. James E, Waldron-Lynch MG, Saif MW. Prolonged survival in a patient with BRCA2 associated metastatic pancreatic cancer after exposure to camptothecin a case report and review of literature. Anticancer Drugs 2009: 20 (7): 634-638.
18. Kote-Jarai Z, Leongamornlert D, Saunders E et al. BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. Br J Cancer 2011: 105 (8): 1230-1234.
19. Narod SA, Neuhausen S, Vichodez G et al. Rapid progression of prostate cancer in men with a BRCA2 mutation. Br J Cancer 2008: 99 (2): 371-374.
20. Castro E, Goh C, Olmos D et al. Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol 2013: 31 (14): 1748-1757.
21. Tryggvadottir L, Vidarsdottir L, Thorgeirsson T et al. Prostate cancer progression and survival in BRCA2 mutation carriers. J Natl Cancer Inst 2007: 99 (12): 929-935.
22. Taherian N, Hamel N, Begin LR et al. Familial prostate cancer: the damage done and lessons learnt. Nat Rev Urol 2013: 10 (2): 116-122.
23. Mitra AV, Bancroft EK, Barbachano Y et al. Targeted prostate cancer screening in men with mutations in BRCA1 and BRCA2 detects aggressive prostate cancer: preliminary analysis of the results of the IMPACT study. BJU Int 2011: 107 (1): 28-39.
24. Kuhl CK, Schmutzler RK, Leutner CC et al. Breast MR imaging screening in 192 women proved or suspected to be carriers of a breast cancer susceptibility gene: preliminary results. Radiology 2000: 215 (1): 267-279.
25. Warner E, Plewes DB, Hill KA et al. Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. JAMA 2004: 292 (11): 1317-1325.
26. Kriege M, Brekelmans CT, Boetes C et al. Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. N Engl J Med 2004: 351 (5): 427-437.
27. Passaperuma K, Warner E, Causer PA et al. Long-term results of screening with magnetic resonance imaging in women with BRCA mutations. Br J Cancer 2012: 107 (1): 24-30.
28. Rijnsburger AJ, Obdeijn IM, Kaas R et al. BRCA1-associated breast cancers present differently from BRCA2-associated and familial cases: long-term follow-up of the Dutch MRISC Screening Study. J Clin Oncol 2010: 28 (36): 5265-5273.
29. Moller P, Stormorken A, Jonsrud C et al. Survival of patients with BRCA1-associated breast cancer diagnosed in an MRI-based surveillance program. Breast Cancer Res Treat 2013: 139 (1): 155-161.
30. Foulkes WD, Reis-Filho JS, Narod SA. Tumor size and survival in breast cancer - a reappraisal. Nat Rev Clin Oncol 2010: 7 (6): 348-353.
31. Foulkes WD. Size surprise? Tumour size, nodal status, and outcome after breast cancer. Curr Oncol 2012: 19 (5): 241-243.
32. Robson ME, Chappuis PO, Satagopan J et al. A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Res 2004: 6 (1): R8-R17.
33. Rennert G, Bisland-Naggan S, Barnett-Griness O et al. Clinical outcomes of breast cancer in carriers of BRCA1 and BRCA2 mutations. N Engl J Med 2007: 357 (2): 115-123.
34. Huzarski T, Byrski T, Gronwald J et al. Ten-year survival in patients with BRCA1-negative and BRCA1-positive breast cancer. J Clin Oncol 2013: 31 (26): 3191-3196.
35. Chappuis PO, Goffin J, Wong N et al. A significant response to neoadjuvant chemotherapy in BRCA1/2 related breast cancer. J Med Genet 2002: 39 (8): 608-610.
36. Warner E, Trudeau M, Holloway C. Sensitivity of BRCA-1-related breast cancer to neoadjuvant chemotherapy: practical implications. Breast J 2003: 9 (6): 507-508.
37. Silver DP, Richardson AL, Eklund AC et al. Efficacy of neoadjuvant Cisplatin in triple-negative breast cancer. J Clin Oncol 2010: 28 (7): 1145-1153.
38. Arun B, Bayraktar S, Liu DD et al. Response to neoadjuvant systemic therapy for breast cancer in BRCA mutation carriers and noncarriers a single-institution experience. J Clin Oncol 2011: 29 (28): 3739-3746.
39. Byrski T, Gronwald J, Huzarski T et al. Pathologic complete response rates in young women with BRCA1-positive breast cancers after neoadjuvant chemotherapy. J Clin Oncol 2010: 28 (3): 375-379.
40. Byrski T, Huzarski T, Dent R et al. Response to neoadjuvant therapy with cisplatin in BRCA1-positive breast cancer patients. Breast Cancer Res Treat 2008: 115 (2): 359-63.
41. Byrski T, Dent R, Blecharz P et al. Results of a phase II open-label, non-randomized trial of cisplatin chemotherapy in patients with BRCA1-positive metastatic breast cancer. Breast Cancer Res 2012: 14 (4): R110.
42. Fong PC, Boss DS, Yap TA et al. Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. N Engl J Med 2009: 361 (2): 123-134.
43. 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 (9737): 235-244.
44. Dubeau L. The cell of origin of ovarian epithelial tumors and the ovarian surface epithelium dogma: does the emperor have no clothes? Gynecol Oncol 1999: 72 (3): 437-442.
45. Colgan TJ, Murphy J, Cole DE, Narod S, Rosen B. Occult carcinoma in prophylactic oophorectomy specimens: prevalence and association with BRCA germline mutation status. Am J Surg Pathol 2001: 25 (10): 1283-1289.
46. Piek JM, van Diest PJ, Zweemer RP et al. Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer. J Pathol 2001: 195 (4): 451-456.
47. Medeiros F, Muto MG, Lee Y et al. The tubal fimbria is a preferred site for early adenocarcinoma in women with familial ovarian cancer syndrome. Am J Surg Pathol 2006: 30 (2): 230-236.
48. Crum CP, McKeon FD, Xian W. BRCA, the oviduct, and the space and time continuum of pelvic serous carcinogenesis. Int J Gynecol Cancer 2012: 22 (Suppl. 1): S29-S34.
49. Folkins AK, Jarboe EA, Saleemuddin A et al. A candidate precursor to pelvic serous cancer (p53 signature) and its prevalence in ovaries and fallopian tubes from women with BRCA mutations. Gynecol Oncol 2008: 109 (2): 168-173.
50. Bijron JG, Seldenrijk CA, Zweemer RP, Lange JG, Verheijen RH, van Diest PJ. Fallopian tube intraluminal tumor spread from noninvasive precursor lesions: a novel metastatic route in early pelvic carcinogenesis. Am J Surg Pathol 2013: 37 (8): 1123-1130.