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Narrative Review

Vol. 6 No. 2 (2002)

BRCA1 and BRCA2 and Inherited Predisposition to Breast and Ovarian Cancers

  • Patricia N. Tonin, Ph.D.
DOI
https://doi.org/10.26443/mjm.v6i2.683
Submitted
November 8, 2020
Published
2002-12-01

Abstract

N/A

References

  1. National Cancer Institute of Canada: Canadian Cancer Statistics 2001, Toronto, Canada, 2001.
  2. Rockhill B, Weinberg CR, Newman B. Population attributable fraction estimation for established breast cancer risk factors: considering the issues of high prevalence and unmodifiability. American Journal of Epidemiology 147:826-833; 1998.
  3. Newman B, Austin MA, Lee M, King M-C. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proceedings of the National Academy of Sciences, USA 85:3044-3048; 1988.
  4. Claus EB, Risch N, Thompson WD. Genetic analysis of breast cancer in the Cancer and Steroid Hormone Study. American Journal of Human Genetics 48:232-242; 1991.
  5. Lynch HT, Conway T, Lynch J. Hereditary ovarian cancer. In: Sharp F, Mason WP, Leake RE, editors. Ovarian Cancer: Biological and Therapeutic Challenges, Cambridge: Chapman and Hall Medical, 1990.
  6. Narod SA, Madlensky L, Bradley L, et al. Hereditary and familial ovarian cancer in Southern Ontario. Cancer 74:2341- 2346; 1994.
  7. Claus EB, Risch N, Thompson WD. Autosomal dominant inheritance of early-onset breast cancer. Cancer 73:643-651; 1994.
  8. Hall JM, Lee MK, Newman B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250:1684-1689; 1990.
  9. Narod SA, Feunteun J, Lynch HT, et al. Familial breast- ovarian cancer locus on chromosome 17q12-23. Lancet 338:82-83; 1991.
  10. Miki Y, Swenson J, Shattuck-Eidens D, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71; 1994.
  11. Wooster R, Neuhausen S, Mangion J, et al. Localisation of a breast cancer susceptibility gene (BRCA2) to chromosome 13q by genetic linkage analysis. Science 265:2088-2090; 1994.
  12. Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 378:789- 792; 1995.
  13. Tavtigian SV, Simard J, Rommens J, et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nature Genetics 12:333-337; 1996.
  14. Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of BRCA1 and BRCA2 genes in breast cancer families. American Journal of Human Genetics 62: 676-689; 1998.
  15. Malkin DD, Li FP, Strong LC, et al. Germline p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms. Science 250:1233-1238; 1990.
  16. Frebourg T, Barbier N, Yan Y, et al. Germline-p53 mutations in 15 families with Li-Fraumeni syndrome. American Journal of Human Genetics 56:608-615; 1995.
  17. Liaw D, Marsh DJ, Li J, et al. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nature16:64-67; 1997
  18. Nelen MR, van Stavern WCG, Peeters EAJ, et al. Germline mutations in PTEN/MMAC1 gene in patients with Cowden disease. Human Molecular Genetics 6:1383-1387; 1997.
  19. Ford D, Easton DF, Bishop DT, et al. Risks of cancer in BRCA1-mutation carriers. Lancet 343:692-695; 1994.
  20. Struewing JP, Hartge P, Wacholder S, et al. The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. New England Journal of Medicine 336:1401-1408; 1997.
  21. Hopper JL, Southey MC, Dite GS, et al. Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2 Australian Breast Cancer Family Study. Cancer Epidemiology Biomarkers and Prevention 8:741-7; 1999.
  22. 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. Journal of the National Cancer Institute 91: 1241-1247; 1999.
  23. The Breast Cancer Linkage Consortium. Cancer Risks in BRCA2 Mutation Carriers. Journal of the National Cancer Institute. 91:1310-1316; 1999.
  24. Easton DF, Ford D, Bishop DT, et al. Breast and ovarian cancer incidence in BRCA-1 mutation carriers. American Journal of Human Genetics 56:265-271; 1995.
  25. Easton DF, The Breast Cancer Linkage Consortium. Cancer Risks in BRCA2 mutation carriers. Journal of the National Institute. 91: 1310-1316; 1999.
  26. Shih HA, Nathanson KL, Seal S, et al. BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers. Clinical Cancer Research 6: 4259-4264; 2000.
  27. Struewing JP, Brody LC, Erdos MR, et al. Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. American Journal of Human Genetics 57:1-7; 1995.
  28. Thorlacius S, Olasfsdottir GH, Tryggvadottir L, et al. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes. Nature Genetics 13:117-119; 1996.
  29. Phelan CM, Lancaster JM, Tonin P, et al. Mutation analysis of BRCA2 gene in 49 site-specific breast cancer families. Nature Genetics 13: 120-122; 1996.
  30. Donegan WL, Redlich PN, Lang PJ, Gall MT. Carcinoma of the breast in males: a multinational survey. Cancer 83:498- 509; 1998.
  31. Haraldsson K, Loman N, Zhang Q-X, et al. BRCA2 germline- mutations are frequent in male breast cancer patients without a family history of disease. Cancer Research 58: 1367-1371;
  32. Stratton MR, Ford D, Neuhausen S, et al. Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. Nature Genetics 7: 103-107; 1994.
  33. Friedman LS, Gayther SA, Kurosake T, et al. Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. American Journal of Human Genetics 60: 313- 319; 1997.
  34. Couch FJ, Farid LM, DeShano ML, et al. BRCA2 germline mutations in male breast cancer cases and breast cancer families. Nature Genetics 13: 123-125; 1996.
  35. Tonin P, Ghadirian P, Phelan C, et al. Case report: A large multi-site cancer family is linked to BRCA2. Journal of Medical Genetics. 32: 982-984; 1995.
  36. Fodor FH, Weston A, Bleiweiss IJ, et al. Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients. American Journal of Human Genetics. 63: 45-51; 1998.
  37. Tonin P, Moselehi R, Green R, et al. Linkage analysis of 26 Canadian breast and breast-ovarian cancer families. Human Genetics 5: 545-550; 1995.
  38. Friedman L, Ostermeyer E, Szabo C, et al. Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. American Journal of Human Genetics 57:1284-1297; 1995.
  39. Zweemer RP, van Dieset PJ, Verheijen RH, et al. Molecular evidence linking primary cancer of the fallopian tube to BRCA1 germline mutations. Gynecologic Oncology 1:45-50; 2000.
  40. Hartley A, Rollason T, Spooner D. Clear cell carcinoma of the fimbria of the fallopian tube in BRCA1 carrier undergoing prophylactic surgery. Clinical Oncology 12:48-59; 2000.
  41. Aziz S, Kuperstein G, Rosen B, et al. A genetic epidemiological study of carcinoma of the fallopian tube. Gynecologic Oncology 80:341-345; 2001.
  42. Burke W, Daly M, Garber J, et al. Recommendations for follow-up care of individuals with inherited predisposition to cancer. II. BRCA1 and BRCA2. Journal of the American Medical Association. 177:997-1003; 1997.
  43. Narod SA, Risch H, Moslehi R, et al. Oral Contraceptive use reduces the risk of hereditary ovarian cancer. New England Journal of Medicine 339: 424-426; 1998.
  44. Brunet J, Ghadirian P, Rebbek TR, et al. The effect of smoking on breast cancer in BRCA1 and BRCA2 carriers. Journal of the National Cancer Institute 90: 761-766; 1998.
  45. Rebbeck TR, Wang Y, Kantoff PW, et al. Modification of BRCA1-and BRCA2-associated breast cancer risk by AIBI genotype and reproductive history. Cancer Research 61:5420- 5424; 2001.
  46. Baron JA, LaVecchia C, Levi F. The antiestrogenic effect of cigarette smoking in women. American Journal of Obstetrics and Gynecology. 162:502-514; 1990.
  47. Yoshida-Kominy H, Deng C, O'Malley BW. The steroid receptor coactivator SRC(p/CIP/RAC3/AIBI/ACTR/TRAM-1) is required for normal growth, puberty, female reproductive function and mammary gland development. Proceedings of the National Academy of Sciences, USA 97:6379-6384; 2000.
  48. Elwood JM. Public health aspects of breast cancer gene testing in Canada. Part 1: Risks and interventions. Chronic Diseases in Canada 20:21-25; 1999.
  49. Fletcher SW, Black W, Harris R, et al. Report of the International Workshop on screening for breast cancer. Journal of the National Cancer Institute. 85: 1644-4656; 1993.
  50. Kerlikowske K, Grady D, Rubin SM, et al. Efficacy of screening mammography: A meta-analysis. Journal of the American Medical Association 273: 149-154; 1995.
  51. Saeterdals A, Dorum A, Heimdal K, et al. Inherited predisposition to breast carcinoma: Results of first round examination of 537 women at risk. Anticancer Research 16: 1989-1992; 1996.
  52. Kollias J, Sibbering DM, Blamey RW, et al. Screening women aged less than 50 years with a family history of breast cancer. European Journal of Cancer. 34: 878-883; 1998.
  53. Lalloo F, Boggis CRM, Evans DGR, et al. Screening by mammography, women with a family history of breast cancer. European Journal of Cancer 34: 937-940; 1998
  54. Chart PL, Franssen E. Management of women at increased risk for breast cancer: Preliminary results from a new program. Canadian Medical Association Journal. 157: 1235-1242; 1997.
  55. Brekelmans CTM, Seynaeve C, Bartels CCM, et al. Effectiveness of breast cancer surveillance in BRCA1/2 gene mutation carriers and women with high familial risk. Journal of Clinical Oncology 19: 924-930; 2001.
  56. Report of the Organizing Committee and Collaborators, Falun Meeting, Sweden: Breast-cancer screening with mammography in women aged 40-49. International Journal of Cancer. 68:693-699; 1996.
  57. Elmore JG, Barton MB, Moceri VM, et al. Ten-year risk of false positive screening mammograms and clinical breast examinations. New England Journal of Medicine 338:1089- 1096; 1998.
  58. Warner E, Peres DB, Shumak RS, et al. Comparison of breast magnetic resonance imaging, mammography, ultrasound for surveillance of women at high risk for hereditary breast cancer. Journal of Clinical Oncology 19: 3524-3531; 2001.
  59. Brown J, Couthard A, Dixon AK, et al. Rationale for a national multi-centre study of magnetic resonance imaging screening in women at genetic risk of breast cancer. Breast 9:72-77; 2000.
  60. Dorum A, Heimdal K, Lovslett K, et al., Prospectively detected cancer in familial breast/ovarian cancer screening. Acta Obstretrics Gynecol Scand 78:906-911; 1999.
  61. Sato S, Yokoymana Y, Sakamoto T, et al. Usefulness of mass screening for ovarian carcinoma using transvaginal ultrasonography. Cancer 89: 582-588; 2000.
  62. Van Nagell JR, Jr, DePriest PD, Reedy MB, et al. The efficiency of transvaginal sonographic screening in asymptomatic women at risk for ovarian cancer. Gynecologic Oncology 77:350-356; 2000.
  63. McGuire WP, Hosjins WJ, Brady MF, et al. Cyclosphosphamide and cisplatin compared with paclitaxel and cisplatin in patients with stage III and stage IV ovarian cancer. New England Journal of Medicine 334: 1-6; 1996.
  64. Liede A, Metcalfe K, Hanna D, et al. Evaluation of the needs of male carriers of mutations in BRCA1 or BRCA2 who have undergone genetic counseling. American Journal of Human Genetics 67:1494-504; 2000.
  65. Lynch HT, Casey MJ. Current status of prohylactic surgery for hereditary breast and gynecologic cancers. Current Opinion in Obstetrics and Gynecology 13: 25-30; 2001.
  66. Hartmann LC, Schaid DJ, Woods JE, et al. Efficacy of bilateral prophylactic mastectomy in women with a family history of breast cancer. New England Journal of Medicine 340:77-84; 1999.
  67. Cook LS, White E, Schwartz SM, et al. A population-based study of contralateral breast cancer following a first primary breast cancer (Washington, United States). Cancer Causes Control 7: 382-390; 1996.
  68. Shairer C, Persson I, Falkeborn M, et al. Breast cancer risk associated with gynecologic surgery and indications for such surgery. International Journal of Cancer 70:150-154; 1997.
  69. Parazzini F, Braga C, LaVecchia C, et al. Hysterectomy, oophorectomy and premenopause, and risk of breast cancer. Obstetrics and Gynecology 90: 453-456; 1997.
  70. Rebbeck TR, Levin Am, Eisen A, et al. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers. Journal of the National Cancer Institute 91: 1475-
  71. ; 1999.
  72. Narod SA, Goldgar D, Cannon-Albright L, et al. Risk modifiers in carriers of BRCA1 mutations. International Journal of Cancer (Predictive Oncology). 64: 394-398; 1995.
  73. Tonin PN, Mes-Masson A-M, Narod S, et al. Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history. Cinical Genetics 55: 318-324; 1999.
  74. Risch HA, McLaughlin JR, Cole DEC, et al. Prevalence and penetrance of germline BRCA1 and BRCA2 mutation sin a population series of 649 women with ovarian cancer. American Journal of Human Genetics 68: 700-710; 2001.
  75. Bandera CA, Muto MG, Schorge JO, et al. BRCA1 gene mutations in women with papillary serous carcinoma of the peritoneum. Obstetrics and Gynecology 92:596-600; 1998.
  76. Struewing JP, Watson P, Easton DF, et al. Prophylactic oophorectomy in inherited breast/ovarian cancer families. Journal of the National Cancer Institute Monograph 17: 33-35; 1995.
  77. Piver MS, Jishi MF, Tsukada Y, et al. Primary peritoneal carcinoma after prophylactic oophorectomy in women with a family history of ovarian cancer: a report of the Gilda Radner Familial Ovarian Cancer Registry. Cancer 71: 2751-2755; 1993.
  78. Tobacman JK, Tucker MA, Kase RM, et al. Intra-abdominal carcinomatosis after prophylactic oophorectomy in ovarian cancer prone families. Lancet II:795-797; 1982.
  79. Fisher B, Constantino JP, Wickerman DL, et al. Tamoxifen for prevention of breast cancer: report of the National Surgical Adjuvant Breast and Bowel Project P-1 Study. Journal of the National Cancer Institute. 90: 1371-1388; 1998.
  80. Early Breast Cancer Trialists' Collaborative Group. Tamoxifen for early breast cancer: an overview of the randomized trials. Lancet 351:1451-1467; 1998.
  81. Narod SA, Brunet J-S, Ghadirian P, et al. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case control study. The Lancet 356:1876-1881; 2000.
  82. Nathanson KL, Wooster R, Weber BL. Breast cancer genetics: what we know and what we need. Nature Medicine 7:552-556; 2001.
  83. Szabo C, Masiello A, Ryan JF et al. The Breast Cancer Information Core: Database Design, Structure, and Scope. Human Mutation 16:123-131; 2000.
  84. Couch FJ, Weber BL. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Breast Cancer Information Core. Human Mutation 8:8-18; 1996.
  85. Hogervost FBL, Cornelis RS, Bout M, et al. Rapid detection of BRCA1 mutations by the protein truncation test. Nature Genetics10:208-212; 1995.
  86. Weber BHF, Brohm M, Stec I, et al. A somatic truncating mutation in BRCA2 in sporadic breast tumor. American Journal of Human Genetics 59:962-964; 1996.
  87. Montagna M, Santacatterina M, Torri A, et al. Identification of a 3 kb Alu-mediated BRCA1 gene arrangement in two breast/ovarian cancer families. Oncogene 18: 4160-4165; 1999.
  88. Nordling M, Karlsson P, Wahlstrom J, et al. A large deletion disrupts the exon 3 transcription activation domain of the BRCA2 gene in a breast/ovarian cancer family. Cancer Research 58: 1372-1375; 1998.
  89. Puget N, Stoppa-Lyonnet D, Sinilnikova OM, et al. Screening for germline rearrangements and regulatiory muations in BRCA1 led to the identification of four new deletions. Cancer Research 59: 455-461; 1999.
  90. Wagner T, Stoppa-Lyonnet D, Fleischmann E, et al. Denaturing high-performance liquid chromatography detects reliably BRCA1 and BRCA2 mutations. Genomics 62:369- 376; 1999.
  91. Gross E, Arnold N, Goette J, et al. A comparison of BRCA1 mutation analysis by direct sequencing, SSCP and DHPLC. Human Genetics 105:72-78; 1999.
  92. Swenson J, Hoffman M, Skolnick MH, et al. Identification of a 14 kb deletion involving the promoter region of BRCA1 in a breast cancer family. Human Molecular Genetics 6: 1513- 1517; 1997.
  93. The Breast Information Core (BIC): An Open Access On-Line Breast Cancer Mutation Data Base. http://www.nhgri.nih.gov/Intramural_research/Lab_transfer/Bic/
  94. Struewing JP, Brody LC, Erdos MR, et al. Detection of eight BRCA1 mutations in 10 breast/ovarian cancer families, including 1 family with male breast cancer. American Journal of Human Genetics 57:1-7; 1995.
  95. Tonin P, Weber B, Offit K, et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nature Medicine 2: 1179-1183; 1996.
  96. Fitzgerald MG, MacDonald DJ, Krainer M, et al. Germline BRCA1 mutations in Jewish and non-Jewish women with early onset breast cancer. New England Journal of Medicine 334:143-149; 1996.
  97. Neuhausen SL, Mazoyer S, Friedman L, et al. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer. Nature Genetics 13:126-128; 1996.
  98. Tonin PN, Mes-Masson A-M, Futreal PA, et al. Founder BRCA1 and BRCA2 mutations in French-Canadian breast and ovarian cancer families. American Journal of Human Genetics 63: 1341-1351; 1998.
  99. Tonin PN, Perret C, Lambert JA, et al. Founder BRCA1 and BRCA2 mutations in early-onset French Canadian breast cancer cases unselected for family history. International Journal of Cancer (Predictive Oncology.) 95:189-193; 2001
  100. Simard J, Tonin P, Durocher F, et al. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. Nature Genetics 8: 392-398; 1994.
  101. Neuhausen SL, Mazoyer S, Friedman L, et al. Haplotype and phenotype analysis of six recurrent BRCA1 mutations in 61 families: Results of an international study. American Journal of Human Genetics 58: 271-280; 1996.
  102. Neuhausen SL, Goldgar AK, Gershoni-Baruch R, et al. Haplotype analysis and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: Results of an international study. American Journal of Human Genetics 62:1381-1388; 1998.
  103. Manning AP, Abelovich D, Ghadirian P, et al. Haplotype analysis of BRCA2 8765delAG Mutation Carriers in French Canadian and Yemenite Jewish Hereditary Breast Cancer Families. Human Heredity 52:116-120; 2001.
  104. Johannesdottir G, Gudmundsson J, Bergthorsson JT, et al. High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients. Cancer Research 56:3663-3665; 1996.
  105. Struewing JP, Abelovich D, Peretz T, et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nature Genetics 11: 198-200; 1995.
  106. Oddoux C, Struewing JP, Clayton CM, et al. The carrier frequency of the BRCA2 6174delT mutation among Ashkenzi Jewish individuals is approximately 1%. Nature Genetics 14: 188-190; 1996.
  107. Roa BB, Boyd AA, Volcik K, Richards CS. Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nature Genetics 14: 185-187; 1996
  108. Berry DA, Parmigiani G, Sanchez J, et al. Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. Journal of the National cancer Institute 89: 227-238; 1997.
  109. Couch FJ, DeShano ML, Blackwoiod MA, et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. New England Journal of Medicine 336:1409- 1415; 1997.
  110. Frank TS, Manley SA, Olopade OI, et al. Sequence analysis of BRCA1 and BRCA2; correlation of mutation with family history and ovarian risk. Journal of Clinical oncology 16:2417- 2425; 1998.
  111. Serova OM, Mazoyer S, Puget N, et al. Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer susceptibility genes? American Journal of Human Genetics 60:486-495; 1997.
  112. Schubert EL, Lee MK, Mefford HC, et al. BRCA2 in American families with four or more cases of breast or ovarian cancer: recurrent and novel mutations, variable expression, penetrance and the possibility of families whose cancer is not attributable to BRCA1 or BRCA2. American Journal of Human Genetics 60: 1031-1040; 1997.
  113. Rebbeck TR, Couch FJ, Kant J, et al. Genetic heterogeneity in hereditary breast cancer: role of BRCA1 and BRCA2. American Journal of Human Genetics 59: 547-553; 1996.
  114. Vehmannen P, Friedman LS, Eerola H, et al. Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. Human Molecular Genetics 6:2309-2315; 1997.

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