The genetic basis of breast cancer and its clinical implications

Australian and New Zealand Journal of Surgery

Volumn 69, Issue 2, 1999, Pages 95-105

  Bennett, Ian C ^a,d   Gattas, Michael ^b   Teh, Bin Tean ^c  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b Queensland Clinical Genetics Service   (Australia)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d NONE   (Australia)

Author keywords

ATM; BRCA1; BRCA2; Breast cancer; Counselling; Familial; Genetic; Hereditary; Mastectomy; p53; Prophylactic; PT EN

Indexed keywords

ANDROGEN RECEPTOR; ESTROGEN RECEPTOR; PROTEIN P53;

ATAXIA TELANGIECTASIA; BREAST CANCER; CHROMOSOME TRANSLOCATION; DISEASE PREDISPOSITION; ENVIRONMENTAL EXPOSURE; FAMILIAL CANCER; GENE EXPRESSION; GENE LOCATION; GENETIC COUNSELING; HETEROZYGOTE DETECTION; HUMAN; MASTECTOMY; ONCOGENE; OVARIECTOMY; PATIENT COUNSELING; RECEPTOR BINDING; REVIEW;

BRCA1 PROTEIN; BRCA2 PROTEIN; BREAST NEOPLASMS; CARRIER PROTEINS; CELL CYCLE PROTEINS; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; GENETIC SCREENING; HUMANS; LIFE STYLE; MASTECTOMY; NEOPLASM PROTEINS; NUCLEAR PROTEINS; PHOSPHORIC MONOESTER HYDROLASES; PROTEIN-SERINE-THREONINE KINASES; PROTEINS; PTEN PHOSPHOHYDROLASE; RECEPTORS, ANDROGEN; RISK; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEIN P53; TUMOR SUPPRESSOR PROTEINS;

EID: 0032955235     PISSN: 00048682     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1440-1622.1999.01515.x     Document Type: Review

References (124)

1. Ackerknecht EH. History and Geography of the Most Important Diseases. New York: Hafner, 1965, p. 162.
2. Broca PP. Traites des tumeurs 1866; 1: 80.
3. Lane-Claypon JE. A further report on cancer of the breasts with special reference to its associated antecedent conditions. Reports of the Ministry of Health, London, 1926, No. 32.
4. Cynch HT, Krush AJ, Lemon HM, Kaplan AR, Candit PT, Bottomley RH. Tumour variations in families with breast cancer. JAMA 1972; 220: 1631-5.
5. Peto J, Easton DF, Matthews FE, Ford D, Swerdlow AJ. Cancer mortality in relatives of breast cancer patients. Int. J. Cancer 1996; 65: 275-83.
6. Anderson DE. Genetic study of breast cancer: Identification of a high risk group. Cancer 1974; 34: 1090-7.
7. Hall JM, Lee MK, Morrow J et al. Linkage analysis of early onset familial breast cancer to chromosome 17q21. Science 1990; 250: 1684-9.
8. Easton DF, Bishop DT, Ford D, Crockford GP, The Breast Cancer Linkage Consortium. Genetic linkage analysis in familial breast and ovarian cancers: Results from 214 families. Am. J. Human Genetics 1993; 52: 678-701.
9. Miki Y, Swensen J, Shattuck-Eidens D et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994; 266: 66-71.
10. Wooster R, Neuhausen SL, Mangion J et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q 12-13. Science 1994; 265: 2088-90.
11. Wooster R, Bignell G, Lancaster J et al. Identification of the breast cancer gene BRCA2. Nature 1995; 378: 789-91.
12. Tavatigan S, Simard J, Rommens J et al. The complete BRCA2 gene and mutations in chromosome 13q linked kindreds. Nature Genet. 1996; 12: 333-7.
13. Eeles RA, Strattib MR, Goldgar DE, Easton DF. The genetics of familial breast cancer and their practical implications. Eur. J. Cancer 1994; 30A: 1383-90.
14. Bishop DT. BRCA1, BRCA2, BRCA3 ... A myriad of breast cancer genes. Eur. J. Cancer 1994; 30A: 1738-9.
15. Boyd J. BRCAI: More than a hereditary breast cancer gene. Nature Genet. 1995; 9: 335-6.
16. Bieche I, Lidereau R. Genetic alterations in breast cancer genes. Chrom. Cancer 1995; 14: 227-51.
17. Claus EB, Risch NJ, Thompson WD. Genetic analysis of breast cancer in the Cancer and Steroid Hormone Study. Am. J. Hum. Genet. 1991; 48: 232-42.
18. Olsson H, Borg A. Genetic predisposition to breast cancer. Acta Oncologica 1996; 35: 1-6.
19. Knudson AG. Mutation and cancer: statistical study of retinoblastoma. P roc. NatlAcad. Sei. USA 1971; 68: 820-3.
20. Knudson AG. Antioncogenes and human cancer. Proc. Nail Acad. Sei. USA 1993; 90: 10914-21.
21. Nowell P. The clonal evolution of tumour cell populations. Science 1976; 194: 23-8.
22. Renan MJ. How many mutations are required for tumourigenesis? Implications for human cancer data. Mol. Carcinogen. 1993; 7: 139-46.
23. Black DM. The genetics of breast cancer: Euro. J. Cancer 1994; 30A: 1957-61.
24. Savitsky K, Bar-Shira A, Gilad S et al. A single ataxia-telangiectasia gene with a product similar to PI-3 kinase. Science 1995; 268: 1749-53.
25. Li J, Yen C, Liaw D et al. PTEN, a putative tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. Science 1997; 275: 1943-47.
26. Liaw D, Marsh DJ, Li J et al. Germline mutations of the PTEN gene in Cowden disease, and inherited breast and thyroid cancer syndrome. Nature Genet. 1997; 16: 64-7.
27. Malkin D, Li FP, Strong LC el al. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms. Science 1990; 250: 1233-8.
28. Ford D, Easton DF. The genetics of breast and ovarian cancer. BJC 1995; 72: 805-12.
29. Chen Y, Chen C-F, Ruey DJ et al. Aberrant subcellular localization of BRCA1 in breast cancer. Science 1995; 270: 789-91.
30. Bertwistle D, Ashworth A. Functions of the BRCA1 and BRCA2 genes. Curr. Opin. Genet. Devel. 1998; 8: 14-20.
31. Zeng YX, Somasundaram K, Deiry WS. AP2 inhibits cancer cell growth and activates 21 WAF1/CIPI expression. Nat. Genet. 1997; 15(1): 78-82.
32. Crook T, Grassland S, Crompton MR et al. p53 mutations in BRCA /-associated familial breast cancer. Lancet 1997; 350: 638-9.
33. Scully R, Chen J, Plug A et al. Association of BRCA1 with Rad 51 in mitotic and meiotic cells. Cell 1997; 88: 265-75.
34. Kinzler KW, Vogelstein B. Gatekeepers and caretakers. Nature 1997; 386: 761-3.
35. Futreal PA, Liu Q, Shattuck-Eidens D et al. BRCA1 mutations in breast and ovarian cancers. Science 1994; 266: 120-2.
36. Merajver S et al. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nature Genet. 1995; 9: 439-43.
37. Blanquet V, Turleau C, Grossmorand MS et al. Spectrum of germline mutations in the RB1 gene: A study of 232 patients with hereditary and non-hereditary retinoblastoma. Hum. Mol. Genet. 1995; 4: 383-8.
38. Powell SM, Zilz N, Beazer-Barclay Y et al. APC mutations occur early during colorectal tumorigenesis. Nature 1992; 359: 235-7.
39. Gnarra JR, Tory K, Weng Y et al. Mutations of the VHL tumor suppressor gene in renal carcinoma. Nature Genet. 1994; 7: 85-9.
40. Thompson ME, Jensen RA, Obermiller PS et al. Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression. Nature Genet. 1995; 9: 444-50.
41. Breast Cancer Information Core (BIC). An open access on line mutation database available through the National Human Genome Research Institute on the Internet at: http://www.nhgri.nih.gov/ Intramural_research/Lab_transfer/BIC/
42. Couch FJ, DeShano ML, Blackwood MA et al. BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N. Engl. J. Med. 1997; 336: 1409-15.
43. Längsten AA, Malone KE, Thompson JD, Dating JR, Ostrander EA. BRCA1 mutations in a population-based sample of young women with breast cancer. N. Engl. J. Med. 1996; 334: 137-42.
44. Ford D, Easton DF, Bishop DT et al. Risks of cancer in BRCA1 mutation carriers. Lancet 1994; 343: 692-5.
45. Narod SA. Genetics of breast and ovarian cancer. In: Genetics of Malignant Disease. Br. Med. Bull. 1994; 50: 65-76.
46. Stuewing JP, Hartge P, Wacholder S et al. The risk of cancer associated with specific mutations of BRCA I and BRCA2 among Ashkenazi Jews. N. Engl. J. Med. 1997; 226: 1401-8.
47. Easton DF, Narod SA, Ford D et al. The genetic epidemiology of BRCA1. Breast Cancer Linkage Consortium. Lancet 1994; 344: 761.
48. Teng D, Bogden R, Mitchell J et al. Low incidence of BRCA2 mutations in breast carcinoma and other cancers. Nature Genet. 1996; 13: 241-4.
49. Lancaster J, Wooster R, Mangion J et al. BRCA2 mutations in primary breast and ovarian cancers. Nature Genet. 1996; 13: 238-40.
50. Rajan JV, Wang M, Marquis ST, Chodosh LA. BRCA2 is coordinately regulated with BRCA1 during proliferation and differentiation in mammary epithelial cells. Prox. All. Acacl. Sei. USA 1996; 93: 13 078-83.
51. Sharan SK, Morimatsu M, Albrecht U et al. Embryonic lethality and radiation hypersensitivity mediated by Rad 51 in mice lacking BRCA2. Nature 1997; 386: 804-10.
52. Stratton M, Ford D, Neuhausen S. Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. Nature Genet. 1994; 7: 103-7.
53. Gayther SA, Mangion J, Russell P et al. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene. Nature Genet. 1997; 15: 103-5.
54. Grimmond S, Palmer J, Walters M et al. Confirmation of a susceptibility locus on chromosome 13 in Australian breast cancer families. Hum. Genet. 1996; 98: 80-5.
55. Srivastava S, Zou Z, Pirollo K, Blattner W, Chang EH. Germline transmission of a mutation p53 gene in a cancer-prone family with Li-Fraumeni Syndrome. Nature 1990; 348: 747-9.
56. Bartek J, Bartkova J, Vojtesek B et al. Patterns of expression of the p53 tumour suppressor in human breast tissues and tumours in situ and HI vitro. Int. J. Cancer 1990; 46: 839.
57. Gatti RA, Boder E, Vinters HV, Sparkes RS, Norman A, Lange K. Ataxia-telangiectasia: An interdisciplinary approach to pathogenesis. Medicine 1991; 70: 99-117.
58. McKinnon PJ. Ataxia-telangiectasia: An inherited disorder of ionizing radiation sensitivity in man. Progress in the elucidation of the underlying biochemical defect. Hum. Genet. 1987; 75: 197-208.
59. Swift M, Reitnauer PJ, Morrell D, Chase CL. Breast and other cancers in families with ataxia-telangiectasia. New Engl. J. Med. 1987:316:1289-94.
60. Lavin M, Bennett I, Ramsay J et al. Identification of a potentially radiosensitive subgroup among patients with breast cancer. J. Natl Cancer Inst. 1994; 86: 1627-34.
61. Hanssen A, Werquin H, Suys E et al. Cowden syndrome: Report of a large family with macrocephaly and increased severity of signs in subsequent generations. Clin. Genet. 1993; 44: 281-6.
62. Smid L, Zargi M. Cowden's disease: Its importance for otolaryngologists. J. Laryngol. Otol. 1993; 107: 1063-5.
63. Radford D, Zehnbauer B. Inherited breast cancer. Surg. Clinic. N.Amer. 1996; 76: 205-20.
64. Rhei E, Kang L, Bogomolniy F, Federici MC, Borgen PI, Boyd J. Mutation analysis of the putative tumor suppressor gene PTEN/ MMAC1 in primary breast carcinomas. Cancer Res. 1997; 57: 3657-9.
65. Wooster R, Mangion J, Eeles R et al. A germline mutation in the androgen receptor gene in 2 brothers with breast cancer and Reifenstein syndrome. Nature Genet. 1992; 2: 132
66. Lobaccaro JM, Lumbroso S, Belon L, Galtier-Dereure F. Androgen receptor mutation in male breast cancer. Human Mol. Genet. 1993; 2: 1799-802.
67. Leach F, Nicholaides N, Papadopoulos NO et al. Mutations of a muts homolog in hereditary nonpolyposis colorectal cancer. Cell 1993; 75: 1215-25.
68. Bronner C, Baker S, Morrison P et al. Mutation in the mismatch repair gene homologue hMLHl is associated with hereditary nonpolyposis colon cancer linked to chromosome 3p. Nature 1994;368:258-61.
69. Nicholaides NM, Papadopoulos N, Liu B et al. Mutations in 2 PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994; 371: 75-80.
70. Papadopoulos N, Nicholaides N, Wei Y et al. Mutation of the mut l homolog associated with hereditary colon cancer. Science 1994; 253: 1625-9.
71. Itoh H, Houlston R, Harocopos C, Slack J. Risk of cancer death in first-degree relatives of patients with hereditary nonpolyposis cancer syndrome. (Lynch type II): A study of 139 kindreds in the United Kingdom. Br. J. Surg. 1990; 77: 1367-70.
72. Lindblom A, Sandelin K, Iselius L et al. Predisposition for breast cancer in carriers of constitutional translocation 1 lq:22q. Am. J. Hum. Genet. 1994; 54: 871-6.
73. Kerangueven F, Essioux L, Dib A et al Loss of heterozygosity and linkage analysis in breast carcinoma: Indication of a putative third susceptibility gene on the short arm of chromosome 8. Oncogene 1995; 10: 1023-6.
74. Zuppan P, Hall J, Lee M, Ponglikitmongkol M, King MC. Possible linkage of the oestrogen receptor gene to breast in a family with late-onset disease. Am. J. Hum. Genet. 1991; 48: 1065-8.
75. Friedman LS, Szabo CI, Ostermeyer EA et al. Novel inherited mutations and variable expressivity of BRCA1 alleles, including the founder mutation 185delAG in Ashkenazi Jewish families. Am. J. Hum. Genet. 1995; 57: 1284-97.
76. Neuhausen SL, Mazoyer S, Friedman L et al. Haplotypô and phenotype analysis of six recurrent BRCA1 mutations in 61 families: Results of an international study. Am. J. Hum. Genet. 1996; 58: 271-80.
77. Dietrich WF, Lander ES, Smith JS et al. Genetic identification of Mom-1, a major modifier locus affecting MIN-induced intestinal neoplasia in the mouse. Cell 1993; 75: 631-9.
78. Cormier RT, Hong KH, Halberg RB et al. Secretory phospholipase Pla2g2a confers resistance to intestinal tumorigenesis. Nature Genet. 1997; 17: 88-91.
79. Phelan CM, Rebbeck T, Weber BL et al. Ovarian cancer risk in BRCAI carriers is modified by the FRAS1 variable number of tandem repeat (VNTR) locus. Nature Genet. 1996; 12: 309-11.
80. Hopper J. Some public health issues in the current state of genetic testing for breast cancer in Australia. Aitst. N.Z. J. Public Health 1996; 20: 139-44.
81. Marcus J, Watson P, Page D et al. Pathology and heredity of breast cancer in younger women. J. Natl Cancer lust. Monogr. 1994; 16: 23-34.
82. Lynch HT, Albano W, Recabaren J et al. Survival in hereditary breast and colon cancer. JAMA 1981; 241: 1197.
83. Bignon Y, Fonch Y, Chassagne MC. Histoprognostic grade in tumours from families with hereditary predisposition to breast cancer. Lancet 1995; 346: 258.
84. Breast Cancer Linkage Consortium. Pathology of familial breast cancer: Differences between breast cancers in carriers of BRCAI or BRCA2 mutations and sporadic cases. Lancet 1997; 349: 1505-10.
85. Johannsson OT, Idvall I, Andersen C et al. Tumour biological features of BRCAI induced breast and ovarian cancer. Eur. J. Cancer 1997; 33: 362-7'1.
86. Lagios M. Multicentricity of breast carcinoma demonstrated by routine correlated serial subgross and radiographie examination. Cancer 1977; 40: 1726-34.
87. Struewing JP, Hartge P, Wacholder S et al. The risk of cancer associated with specific mutations of BRCAI and BRCA2 among Ashkenazi Jews. N. Engl. J. Med. 1997; 336: 1401-8.
88. Shapiro S, Venet W, Strax P et al. 10-14 year effects of breast cancer screening on mortality. J. Natl Cancer Inst. 1982; 69: 349-55.
89. Tabar L, Gad A, Holmberg LH et al. Reduction in mortality from breast cancer after mass screening with mammography. Randomized trial from the Breast Cancer Screening Working Group of the Swedish National Board of Health and Welfare. 1985; 1: 829-32.
90. Smart CR, Hendrick RE, Rutledge JH, Smith RA. Benefit of mammographie screening on women aged 40-49: Current evidence from randomized controlled trials. Cancer 1995; 75: 1619-26.
91. Evans JS, Wennberg JE, McNeil BJ. The incidence of diagnostic radiography on the incidence of breast cancers and leukemia. N. Engl. J. Med. 1986; 315: 810-15.
92. Burke W, Daly M, Barber J et al. Recommendations for followup care of individuals with an inherited predisposition to cancer II. BRCAI & BRCA2. JAMA 1997; 277: 145-51.
93. Fletcher S, O'Malley MS, Earp J et al. How best to teach women breast self-examination: A randomised controlled trial. Ann. Intern. Med. 1990; 112: 772-9.
94. Miller AB, Haines CJ, Turnbull C et al. The role of the nurse examiner in the National Breast Screening study. Can. J. Public H faith 1991; 82: 162-7.
95. Campbell HS, Fletcher SW, Lin S et al. Improving physicians and nurses clinical breast examination. Am. J. Prev. Med. 1991; 7: 1-8.
96. Reports of the Work Group to Review the National Breast Cancer Institute-American Cancer Society Breast Cancer Detection Demonstration Project. J. Natl Cancer Inst. 1979; 62: 639-709.
97. Selby JV, Friedman GD, Quesenberry CP et al. A casecontrolled study of screening sigmoidoscopy and mortality from colorectal cancer. N. Engl. J. Med. 1992; 326: 653-7.
98. Fleischer DE, Goldberg SB, Browning TH et al. Detection and surveillance of colorectal cancer. JAMA 1989; 261: 580-5.
99. Mettlin C, Jones G, Averette H et al. Defining and updating the American Cancer Society Guidelines for the cancer related checkup. CA Cancer J. Clin. 1993; 43: 42-6.
100. Goodnight JE, Quagliana JM, Morton DL. Failure of subcutaneous mastectomy to prevent the development of breast cancer. J. Surg. Oncol. 1984; 26: 198-201.
101. Eldar S, Meguid MM, Beatty JD. Cancer of the breast after prophylactic subcutaneous mastectomy. Am. J. Surg. 1984; 148: 692-3.
102. Mies C. Recurrent secretory carcinoma in residual mammary tissue after mastectomy. Am. J. Surg. Pathol. 1993; 17: 715-21.
103. Slade CL. Subcutaneous mastectomy. Plast. Reconstr. Surg. 1984; 73: 84-90.
104. Goldman L, Goldwyn R. Some anatomical considerations of subcutaneous mastectomy. Plast. Reconstr. Surg. 1973; 51: 501-3.
105. Schräg D, Kuntz KM, Garber JE, Weeks JC. Decision analysiseffects of prophylactic mastectomy and oophorectomy on life expectancy among women with BRCA1 or BRCA2 mutations. N. Engl. J. Med. 1997; 336: 1465-71.
106. Tobacman J, Greene M, Tucker M et al. Intraabdominal carcinomatosis after prophylactic oophorectomy in ovarian cancer prone families. Lancet 1982; 2: 795-7.
107. CRC Adjuvant Breast Trial Working Party. Cyclophosphamide and tamoxifen as adjuvant therapies in the management of breast cancer. Br. J. Cancer 1988, 57: 604-7.
108. lornander T, Rutquist LE, Cedermark B et al. Adjuvant tamoxifen in early breast cancer: Occurrence of new primary cancers. Lancet 1989; 1: 117-20.
109. Powles TJ, Jones AC, Ashley SE et al. The Royal Marsden Hospital pilot tamoxifen chemoprevention trial. Breast Cancer Res. Treat. 1994; 31: 73-82.
110. Vanchieri C. Breast cancer study initiated in Italy. J. Natl Cancer Inst. 1992; 84: 1555-6.
111. International Breast Cancer Intervention Study: Study Procedures (UKCCCR). 1993. London: IBIS Co-ordinating Centre.
112. Primary Prevention International Tamoxifen Study to Continue. International cancer news. Eur. J. Cancer 1998; 34: 1138.
113. Neven P, De Muylder X, Van Belle Y et al. Tamoxifen and the uterus. Er. J. Med. 1994; 309: 1313-14.
114. Colditz G, Hankinson SE, Hunter DJ et al. The use of estrogens and progestins and the risk of breast cancer in postmenopausal women. N. Engl. J. Med. 1995; 332: 1589-93.
115. Steinberg KK, Thacker SB, Smith SJ et al. A meta analysis of the effect of oestrogen replacement therapy on the risk of breast cancer. JAMA 1991; 265: 1985-90.
116. Grady D, Rubin S, Petitti DB et al. Hormone therapy to prevent disease and prolong life in postmenopausal women. Ana. Inter. Med. 1992; 117: 1016-37.
117. UK National Case-Control Study Group. Oral contraceptive use and breast cancer risk in young women: Subgroup analyses. Lancet 1990: 335: 1507-9.
118. Collaborative Group on Hormonal Factors in Breast Cancer. Breast cancer and hormonal contraceptives. Lancet 1996; 347: 1713-27.
119. Hankinson SE, Colditz GA, Hunter DJ et al. A quantitative assessment of oral contraceptive use and risk of ovarian cancer. Obstet. Gynecol. 1992; 80: 708-14.
120. Gross TP, Schlesselman JJ. The estimated effect of oral contraceptive use on the cumulative risk of epithelial ovarian cancer. Obstet. Gynecol. 1994; 83: 419-24.
121. Piver MS, Baker TR, Jishi MF et al. Familial ovarian cancer. Cancer 1993; 72 (Suppl. 2): 582-8.
122. Lynch H, Lynch J, Conway T et al. Psychological aspects of monitoring high risk women for breast cancer. Cancer 1994; 74: 1184-92.
123. Kirk J, Tucker K. National Best Practice Guidelines for Familial Cancer Clinics. Kings Cross: NHMRC National Breast Cancer Centre, 1997.
124. Current Best Advice about Familial Aspects of Breast Cancer. A guide for General Practitioners. Kings Cross: Genetic Testing Working Group of NHMRC National Breast Centre, 1997.