The clinical management of BRCA1 and BRCA2 mutation carriers

Current Oncology Reports

Volumn 10, Issue 1, 2008, Pages 47-53

  Gulati, Anthony P ^b   Domchek, Susan M ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE RIBOSE POLYMERASE INHIBITOR; ANTINEOPLASTIC AGENT; BRCA1 PROTEIN; BRCA2 PROTEIN; CA 125 ANTIGEN; CARBOPLATIN; CHECKPOINT KINASE 2; DOCETAXEL; ESTROGEN; ORAL CONTRACEPTIVE AGENT; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PLACEBO; PLATINUM COMPLEX; PROGESTERONE; PROTEIN P53; RALOXIFENE; TAMOXIFEN; UNCLASSIFIED DRUG;

AGE DISTRIBUTION; BREAST CANCER; CANCER ADJUVANT THERAPY; CANCER INVASION; CANCER RISK; CANCER SCREENING; CLINICAL TRIAL; COMBINATION CHEMOTHERAPY; CONTRACEPTION; GENE MUTATION; GENE REARRANGEMENT; GENETIC COUNSELING; GENETIC PREDISPOSITION; GENETIC SCREENING; HETEROZYGOSITY; HIGH RISK PATIENT; HORMONE SUBSTITUTION; HUMAN; IONIZING RADIATION; MAMMOGRAPHY; MASTECTOMY; MONOTHERAPY; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARIECTOMY; OVARY CANCER; POSTOPERATIVE CARE; PREMENOPAUSE; RADIATION CARCINOGENESIS; RADIATION EXPOSURE; RADIATION HAZARD; REVIEW; RISK REDUCTION; SECOND CANCER; SYSTEMIC THERAPY; THORAX RADIOGRAPHY; TRANSVAGINAL ECHOGRAPHY; UNPLANNED PREGNANCY;

ANTICARCINOGENIC AGENTS; BREAST NEOPLASMS; CHEMOPREVENTION; FEMALE; GENES, BRCA1; GENES, BRCA2; GENETIC PREDISPOSITION TO DISEASE; GERM-LINE MUTATION; HUMANS; MASS SCREENING; MASTECTOMY; OVARIAN NEOPLASMS; OVARIECTOMY; RISK REDUCTION BEHAVIOR;

EID: 38149058787     PISSN: 15233790     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11912-008-0008-9     Document Type: Review

References (52)

1. King MC, Marks JH, Mandell JB: Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science 2003, 302:643-646.
2. Antoniou AC, Pharoah PD, Narod S, et al.: Breast and ovarian cancer risks to carriers of the BRCA 5382insC and 185delAG and BRCA2 6171delT mutations: a combined analysis of 22 population based studies. J Med Genet 2005, 42:602-603.
3. Gaarenstroom KN, van der Hiel B, Tollenaar RA, et al.: Efficacy of screening women at high risk of hereditary ovarian cancer: results of an 11-year cohort study. Int J Gynecol Cancer 2006, 16:54-59.
4. Oei AL, Massuger LF, Bulten J, et al.: Surveillance of women at high risk for hereditary ovarian cancer is inefficient. Br J Cancer 2006, 94:814-819.
5. Olivier RI, Lubsen-Brandsma MA, Verhoef S, et al.: CA125 and transvaginal ultrasound monitoring in high-risk women cannot prevent the diagnosis of advanced ovarian cancer. Gynecol Oncol 2006, 100:20-26.
6. Narod SA, Risch H, Moslehi R, et al.: Oral contraceptives and the risk of hereditary ovarian cancer. N Engl J Med 1998, 339:424-428.
7. McLaughlin JR, Risch HA, Lubinski J, et al.: Reproductive risk factors for ovarian cancer in carriers of BRCA1 or BRCA2 mutations: a case-control study. Lancet Oncol 2007, 8:26-34.
8. Whittemore AS, Balise RR, Pharoah PD, et al.: Oral contraceptive use and ovarian cancer risk among carriers of BRCA1 or BRCA2 mutations. Br J Cancer 2004, 91:1911-1915.
9. Narod SA, Dube MP, Klijn J, et al.: Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers. J Natl Cancer Inst 2002, 94:1773-1779.
10. Haile RW, Thomas DC, McGuire V, et al.: BRCA1 and BRCA2 mutation carriers, oral contraceptive use, and breast cancer before age 50. Cancer Epidemiol Biomarkers Prev 2006, 15:1863-1870.
11. Brohet RM, Goldgar DE, Easton DF, et al.: Oral contraceptives and breast cancer risk in the International BRCA1/2 Carrier Cohort Study: a report from EMBRACE, GENEPSO, GEO-HEBON, and the IBCCS Collaborating Group. J Clin Oncol 2007, [Epub ahead of print].
12. Rebbeck TR, Lynch HT, Neuhausen SL, et al.: Prophylactic oophorectomy in carriers of BRCA1 and BRCA2 mutations. N Engl J Med 2002, 346:1616-1622.
13. Kauff ND, Satagopan JM, Robson ME, et al.: Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med 2002, 346:1609-1615.
14. Rutter JL, Wacholder S, Chetrit A, et al.: Gynecologic surgeries and risk of ovarian cancer in women with BRCA1 and BRCA2 Ashkenazi founder mutations: an Israeli population-based case-control study. J Natl Cancer Inst 2003, 95:1072-1078.
15. Domchek SM, Friebel TM, Neuhausen SL, et al.: Mortality after bilateral salpingo-oophorectomy in BRCA1 and BRCA2 mutation carriers: a prospective cohort study. Lancet Oncol 2006, 7:223-229.
16. Eisen A, Lubinski J, Klijn J, et al.: Breast cancer risk following bilateral oophorectomy in BRCA1 and BRCA2 mutation carriers: an international case-control study. J Clin Oncol 2005, 23:7491-7496.
17. Kramer JL, Velazquez IA, Chen BE, et al.: Prophylactic oophorectomy reduces breast cancer penetrance during prospective, long-term follow-up of BRCA1 mutation carriers. J Clin Oncol 2005, 23:8629-8635.
18. Finch A, Beiner M, Lubinski J, et al.: Salpingo-oophorectomy and the risk of ovarian, fallopian tube, and peritoneal cancers in women with a BRCA1 or BRCA2 mutation. JAMA 2006, 296:185-192.
19. Lu K, Garber JE, Cramer DW, et al.: Occult ovarian tumors in women with BRCA1 or BRCA2 mutations undergoing prophylactic oophorectomy. J Clin Oncol 2000, 18:2728-2732.
20. Rebbeck TR, Friebel T, Wagner T, et al.: Effect of short term hormone replacement therapy on breast cancer risk reduction after bilateral prophylactic oophorectomy in BRCA1 and BRCA2 mutation carriers. J Clin Oncol 2005, 23:7804-7810.
21. Anderson GL, Limacher M, Assaf AR, et al.: Effects of conjugated equine estrogen in postmenopausal women with hysterectomy: the Women's Health Initiative randomized control trial. JAMA 2004, 291:1701-1712.
22. Rossouw JE, Anderson GL, Prentice RL, et al.: Risks and benefits of estrogen plus progestin in healthy post-menopausal women: principal results from the Women's Health Initiative randomized controlled trial. JAMA 2002, 288:321-333.
23. 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, 351:427-437.
24. 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, 292:1317-1325.
25. Leach MO, Boggis, CR, Dixon AK, et al.: Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet 2005, 365:1769-1778.
26. Gudmundsdottir K, Ashworth A: The roles of BRCA1 and BRCA2 and associated proteins in the maintenance of genomic stability. Oncogene 2006, 25:5864-5874.
27. Ronkers CM, Erdmann CA, Land CE: Radiation and breast cancer: a review of current evidence. Breast Cancer Res 2005, 7:21-32.
28. Land CE, Tokunaga M, Koyoma K, et al.: Incidence of female breast cancer among atomic bomb survivors, Hiroshima and Nagasaki, 1950-1990. Radiat Res 2003, 160:707-717.
29. Narod SA, Lubinski J, Ghadirian P, et al.: Screening mammography and risk of breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Lancet Oncol 2006, 7:402-406.
30. Goldfrank D, Chuai S, Bernstein J, et al.: Effect of mammography on breast cancer risk in women with mutations in BRCA1 or BRCA2. Cancer Epidemiol Biomarkers Prev 2006, 15:2311-2313.
31. Andrieu N, Easton D, Chang-Claude J, et al.: Effect of chest x-rays on the risk of breast cancer among BRCA1/2 mutation carriers in the international BRCA1/2 carrier cohort study: a report from the EMBRACE, GENEPSO, GEO-HEBON, and IBCCS Collaborators' Group. J Clin Oncol 2006, 24:3328-3330.
32. John E, Phipps A, Knight J, et al.: Medical radiation exposure and breast cancer risk: findings from the breast cancer family registry. Int J Cancer 2007, 121:386-394.
33. Kauff ND, Domchek SM, Friebel TM, et al.: Multi-center prospective analysis of risk-reducing salpingo-oophorectomy to prevent BRCA-associated breast and ovarian cancer. J Clin Oncol 2007, [In press].
34. Narod SA, Brunet JS, Ghadirian P, et al.: Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet 2000, 356:1876-1881.
35. Grunwald J, Tung N, Foulkes WD: Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. Int J Cancer 2006, 118:2281-2284.
36. Fisher B, Costantino JP, Wicherham DL, et al.: Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. J Natl Cancer Inst 1998, 90:1371-1388.
37. King MC, Wieand S, Hale K, et al.: Tamoxifen and breast cancer incidence among women with inherited mutations in BRCA1 and BRCA2: National Surgical Adjuvant Breast and Bowel Project (NSABP-P1) Breast Cancer Prevention Trial. JAMA 2001, 286:2251-2256.
38. Vogel VG, Constantino JP, Wickerham DL, et al.: Effects of tamoxifen vs raloxifene on the risk of developing invasive breast cancer and other disease outcomes: The NSABP study of tamoxifen and raloxifene (STAR) P-2 trial. JAMA 2006, 295:2727-2741.
39. Hartmann LC, Schaid DJ, Woods JE, et al.: Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. N Engl J Med 1999, 240:77-84.
40. Hartmann LC, Sellers TA, Schaid DJ, et al.: Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. J Natl Cancer Inst 2001, 93:1633-1637.
41. Rebbeck TR, Friebel T, Lynch HT, et al.: Bilateral prophylactic mastectomy reduces breast cancer risk in BRCA1 and BRCA2 mutation carriers: the PROSE Study Group. J Clin Oncol 2004, 22:981-983.
42. Walsh T, Casadei S, Hale Coats K, et al.: Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. JAMA 2006, 10:2981-2921.
43. Genetic testing for hereditary cancer syndromes resource guide. Myriad Genetic Laboratories, Inc. website. http://www.myriadresourceguide.com/bracanal/guidelines.htm. Accessed October 16, 2007.
44. Pierce LJ, Strawderman M, Narod SA, et al.: Effect of radiotherapy after breast-conserving treatment in women with breast cancer and germline BRCA1/2 mutations. J Clin Oncol 2000, 18; 3360-3369.
45. Pierce LJ, Levin AM, Rebbeck TR, et al.: Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/ 2-associated stage I/II breast cancer. J Clin Oncol 2006, 24:2437-2443.
46. Schwartz MD, Lerman C, Brogan B, et al.: Impact of BRCA1/BRCA2 counseling and testing on newly diagnosed breast cancer patients. J Clin Oncol 2004, 22:1823-1829.
47. Lakhani SR, Van De Vijver MJ, Jacquemier J, et al.: The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2. J Clin Oncol 2002, 20:2310-2318.
48. 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, 357:115-123.
49. Cass I, Baldwin RL, Varkey T, et al.: Improved survival in women with BRCA-associated ovarian carcinoma. Cancer 2003, 97:2187-2195.
50. Venkitaraman AR: Cancer susceptibility and the functions of BRCA1 and BRCA2. Cell 2002, 108:171-182.
51. Kennedy RD, Quinn JE, Mullan PB, et al.: The role of BRCA1 in the cellular response to chemotherapy. J Natl Cancer Inst 2004, 96:1659-1668.
52. Yap TA, Boss DS, Fong PC, et al.: Phase I study of AZD2281 (KU-0059436), a poly ADP-ribose polymerase (PARP) inhibitor in cancer patients, including BRCA1/2 mutation carriers. J Clin Oncol 2007, 25:145S.