Inherited risk of women's cancers: What's changed for the practicing physician?

Clinical Obstetrics and Gynecology

Volumn 45, Issue 3, 2002, Pages 671-683

  Frank, Thomas S ^a,b   Critchfield, Gregory C ^a  

^a Myriad Genetic Laboratories   (United States)

^b NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; BRCA2 PROTEIN; CA 125 ANTIGEN; GENE PRODUCT; ORAL CONTRACEPTIVE AGENT; PROTEIN MLH1; PROTEIN MLH2; TAMOXIFEN; UNCLASSIFIED DRUG;

ANAMNESIS; BREAST CANCER; CANCER DIAGNOSIS; CANCER PREVENTION; CANCER RISK; CANCER SCREENING; CARCINOGENESIS; CLINICAL TRIAL; COLORECTAL CANCER; COST EFFECTIVENESS ANALYSIS; ENDOMETRIUM CANCER; FAMILIAL CANCER; FAMILY HISTORY; GENE MUTATION; GENETIC PREDISPOSITION; GYNECOLOGIC CANCER; HUMAN; LABORATORY TEST; MASTECTOMY; OVARY CANCER; PROPHYLAXIS; REVIEW; RISK ASSESSMENT; TREATMENT PLANNING; UTERINE TUBE LIGATION;

BREAST NEOPLASMS; CARRIER PROTEINS; DNA-BINDING PROTEINS; ENDOMETRIAL NEOPLASMS; FEMALE; GENES, BRCA1; GENES, BRCA2; GENITAL NEOPLASMS, FEMALE; HUMANS; INSURANCE SELECTION BIAS; INSURANCE, HEALTH; MEDICAL HISTORY TAKING; MUTATION; MUTS HOMOLOG 2 PROTEIN; NEOPLASM PROTEINS; NUCLEAR PROTEINS; OVARIAN NEOPLASMS; PROTO-ONCOGENE PROTEINS; UNITED STATES;

EID: 0036403757     PISSN: 00099201     EISSN: None     Source Type: Journal    
DOI: 10.1097/00003081-200209000-00011     Document Type: Review

References (58)

1. Claus EB, Schildkraut JM, Thompson WD, et al. The genetic attributable risk of breast and ovarian cancer. Cancer. 1996;77:2318-2324.
2. Risch HA, Mclaughlin JR, Cole DEC, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 Mutations in a population series of 649 women with ovarian cancer. Am J Hum Genet. 2001;68:700-710.
3. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. Am J Hum Genet. 1998;62:676-689.
4. Scully R, Chen J, Plug A, et al. Association of BRCA1 with Rad51 in mitotic and meiotic cells. Cell. 1997;88:265-275.
5. Sharan SK, Morimatsu M, Albrecht U, et al. Embryonic lethality and radiation hypersensitivity mediated by Rad51 in mice lacking Brca2. Nature. 1997;386:804-810.
6. Liu B, Parsons R, Papadopoulos N, et al. Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nature Med. 1996;2:169-173.
7. Fearon ER. Human cancer syndromes: Clues to the origin and nature of cancer. Science. 1997;278:1043-1050.
8. Ford D, Easton DF, Bishop DT, et al. Risks of cancer in BRCA1-mutation carriers. Lancet. 1994;343:692-695.
9. Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. N Engl J Med. 1997;336:1401-1408.
10. Easton DF, Ford D, Bishop DT, et al. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet. 1995;56:265-271.
11. Whittemore AS, Gong G, Itnyre J. Prevalence and contribution of BRCA1 mutations in breast cancer and ovarian cancer: results from three U.S. population-based case-control studies of ovarian cancer. Am J Hum Genet. 1997;60:496-504.
12. Frank TS, Manley SA, Olopade OI, et al. Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk. J Clin Oncol. 1998;16:2417-2425.
13. The Breast Cancer Linkage Consortium. Cancer Risks in BRCA2 Mutation Carriers. J Natl Cancer Inst. 1999;91:1310-1316.
14. Verhoog LC, Brekelmans CTM, Seynaeve C, et al. Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1. Lancet. 1998;351:316-321.
15. Verhoog LC, Brekelmans CTM, Seynaeve C, et al. Survival in hereditary breast cancer associated with germline mutations of BRCA2. J Clin Oncol. 1999;17:3396-3402.
16. Vasen HFA, Vignen J, Menko FH, et al. Cancer risk in families with Hereditary Nonpolyposis Colorectal Cancer diagnosed by mutation analysis. Gastroenterology. 1996;110:1020-1027.
17. Aarnio M, Sankila R, Pukkala E, et al. Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer. 1999;81:214-218.
18. Risinger JI, Barrett JC, Watson P, et al. Molecular genetic evidence of the occurrence of breast cancer as an integral tumor in patients with the hereditary nonpolyposis colorectal carcinoma syndrome. Cancer. 1996;77:1836-1843.
19. Lynch HT, Harris RE, Lynch PM, et al. Role of heredity in multiple primary cancer. Cancer. 1977;40:1849-1854.
20. Mecklin J-P, Sipponen P, Jarvinen HJ. Histopathology of colorectal carcinomas and adenomas in cancer family syndrome. Dis Colon Rectum. 1986;29:849.
21. Ruo L, Cellini C, La-Calle JP, et al. Limitations of family cancer history assessment at initial surgical consultation. Dis Colon Rectum 2001;44:98-103.
22. Huelsman KM, Huppert J, Fiorica J. Screening your patients for inherited breast and ovarian cancer: How to collect family history data. Contemp OB-GYN. 1998;43:107-132.
23. Frank TS, Deffenbaugh AM, Reid JE, et al. Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals. J Clin Oncol. 2002;20:1480-1490.
24. Abeliovich D, Kaduri L, Lerer I, et al. The founder mutations 185de1AG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women. Am J Hum Genet. 1997;60:505-514.
25. 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;91:1241-1247.
26. Beller U, Halle D, Catane R, et al. High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history. Gynecol Oncol. 1997;67:123-126.
27. American Gastroenterological Association medical position statement: Hereditary colorectal cancer and genetic testing. Gastroenterology. 2001;121:195-197.
28. Syngal S, Fox EA, Eng C, et al. Sensitivity and specificity of clinical criteria for Hereditary Non-Polyposis Colorectal Cancer associated mutations in MSH2 and MLH1. J Med Genet. 2000;37:641-645.
29. Offit K, Biesecker BB, Burt RW, et al. Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility. J Clin Oncol. 1996;14:1730-1736.
30. Eng C, Brody LC, Wagner TMU, et al. Blinded comparison of methods for detecting germline BRCA1 mutations: Implications for molecular epidemiologic-research and the practice of molecular medicine. J Med Genet. 2001;93:1633-1637.
31. Lerman C, Hughes C, Lemon SJ, et al. What you don't know can hurt you: Adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. J Clin Oncol. 1998;16:1650-1654.
32. Audrain J, Rimer B, Cella D, et al. Genetic counseling and testing for breast-ovarian cancer susceptibility: what do women want? J Clin Oncol. 1998;16:133-138.
33. Bernhart BA, Geller G, Doksum T et al. Evaluation of nurses and genetic counselors as providers of education about breast cancer susceptibility testing. Oncol Nurs Forum. 2000;27:33-39.
34. Burke W, Daly M, Garber J, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. Cancer Genetics Studies Consortium. JAMA. 1997;277:997-1003.
35. 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. Lancet. 2000;356:1876-81.
36. King M-C, 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.
37. Fisher B, Costantino JP, Wickerham 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.
38. Meijers-Heijboer H, van Geel B, van Putten WL, et al. Breast cancer after prophylactic bilateral mastectomy in women with a BRCA1 or BRCA2 mutation. N Engl J Med. 2001;345:159-164.
39. 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.
40. Lerman C, Narod S, Schulman K, et al. BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA. 1996;275:1885-1892.
41. NIH Consensus Development Panel on Ovarian Cancer. Ovarian cancer: Screening, treatment and follow-up. JAMA. 1995;273:491-497.
42. The Cancer and Steroid Hormone Study of the Centers for Disease Control and the National Institute of Child Health and Human Development. The reduction in risk of ovarian cancer associated with oral-contraceptive use. N Engl J Med. 1987;316:650-655.
43. 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.
44. Narod SA, Sun P, Ghadirian P, et al. Tubal ligation and risk of ovarian cancer in carriers of BRCA1 or BRCA2 mutations: A case-control study. Lancet. 2001;357:1467-1470.
45. Modan B, Hartge P, Hirsh-Yechezkel G, et al. Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation. N Engl J Med. 2001;345:235-240.
46. Weber BL, Punzalan C, Eisen A et al. Ovarian cancer risk reduction after bilateral prophylactic oophorectomy (BPO) in BRCA1 and BRCA2 mutation carriers. Am J Hum Genet. 2000;67(S2):59.
47. Rebbeck TR, Levin AM, Eisen A, et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. J Natl Cancer Inst. 1999;91:1475-1479.
48. Levine DA, Lin O, Barakat RR, et al. Risk of endometrial carcinoma associated with BRCA mutation. Gynecol Oncol. 2001;80:395-398.
49. Jarvinen HJ, Aarnio M, Mustonen H, et al. Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology. 2000;118:829-834.
50. Cardosi RJ, Fiorica JV. Surveillance of the endometrium in tamoxifen treated women. Curr Opinion Obstet Gynecol. 2000;12:27-31.
51. Barakat RR, Gilewski TA, Almadrones L, et al. Effect of adjuvant tamoxifen on the endometrium in women with breast cancer: A prospective study using office endometrial biopsy. J Clin Oncol. 2001;18:3459-63.
52. Brown GJE, St. John DJB, Macrae FA, et al. Cancer risk in young women at risk of hereditary nonpolyposis colorectal cancer: implications for gynecologic surveillance. Gynecol Oncol. 2001;80:346-349.
53. Burke W, Petersen G, Lynch P, et al. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer Genetics Studies Consortium. JAMA. 1997;277:915-919.
54. Ponder B. Genetic testing for cancer risk. Science. 1997;278:1050-1058.
55. Billings PR, Kohn MA, de Cuevas M, et al. Discrimination as a consequence of genetic testing. Am J Hum Genet. 1992;50:476-482.
56. Hall MA, Rich SS. Laws restricting health insurers' use of genetic information: Impact on genetic discrimination. Am J Hum Genet. 2000;66:293-307.
57. Chen W, Nicholls K, Allen J. BRCA1/2 genetic testing in the community: A follow-up study. Am Soc Clin Oncol Program/Proceeding 99;18:611a.
58. Hall MA, Rich SS. Patients' fear of genetic discrimination by health insurers: The impact of legal protections. Genet Med. 2000;2:214-221.