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PMID: 7547224 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

The genetics of breast and ovarian cancer.

British journal of cancer ·Vol. 72 ·No. 4 ·1995-10-00 ·Pages 805-12

Ford D, Easton DF

Abstract

A number of genes are known to be involved in inherited susceptibility to breast and/or ovarian cancer. In the context of high-risk families the most important genes are BRCA1 on chromosome 17q, which is associated with a high penetrance of both breast and ovarian cancer, and BRCA2 on chromosome 13q, which causes a high risk of breast cancer but a lower risk of ovarian cancer. Other high-risk cancer genes that confer increased risks of breast or ovarian cancer in addition to other cancers include the hereditary non-polyposis colorectal cancer genes and the TP53 gene, which causes breast cancer as part of the Li-Fraumeni syndrome. The predisposing mutations in these genes are relatively rare in the population. More common genes which are associated with an increased, but lower, risk of breast cancer are the ataxiatelangiectasia gene and the HRAS1 gene. This paper reviews recent progress in mapping and cloning of these susceptibility genes, and provides estimates of the cancer risks associated with each gene and the frequency of predisposing mutations.

MeSH Terms
Ataxia Telangiectasia/genetics BRCA1 Protein BRCA2 Protein Breast Neoplasms/genetics Chromosome Mapping Cloning, Molecular Female Humans Neoplasm Proteins/genetics Ovarian Neoplasms/genetics Transcription Factors/genetics
Chemicals
BRCA1 Protein BRCA2 Protein Neoplasm Proteins Transcription Factors
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Ford D
Section of Epidemiology, Institute of Cancer Research, Belmont, Surrey, UK.
Easton D F
References (53)
53 references, click to expand
  1. Splice-site mutation of the p53 gene in a family with hereditary breast-ovarian cancer.
    Oncogene. 1994 Jan;9(1):97-102 PMID: 8302608
  2. A large kindred with 17q-linked breast and ovarian cancer: genetic, phenotypic, and genealogical analysis.
    J Natl Cancer Inst. 1994 Feb 2;86(3):200-9 PMID: 8283492
  3. Genetic steps in colorectal cancer.
    Nat Genet. 1994 Mar;6(3):217-9 PMID: 8012377
  4. A novel approach to estimate the proportion of hereditary nonpolyposis colorectal cancer of total colorectal cancer burden.
    Cancer Detect Prev. 1994;18(1):57-63 PMID: 8162607
  5. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.
    Lancet. 1994 Mar 19;343(8899):692-5 PMID: 7907678
  6. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.
    Nature. 1994 Sep 1;371(6492):75-80 PMID: 8072530
  7. Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q.
    Nat Genet. 1994 May;7(1):103-7 PMID: 8075631
  8. Systematic population-based assessment of cancer risk in first-degree relatives of cancer probands.
    J Natl Cancer Inst. 1994 Nov 2;86(21):1600-8 PMID: 7932824
  9. Familial site-specific ovarian cancer is linked to BRCA1 on 17q12-21.
    Am J Hum Genet. 1994 Nov;55(5):870-5 PMID: 7977348
  10. Genetics of breast and ovarian cancer.
    Br Med Bull. 1994 Jul;50(3):656-76 PMID: 7987646
  11. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium.
    Am J Hum Genet. 1995 Jan;56(1):265-71 PMID: 7825587
  12. Cancer risks in A-T heterozygotes.
    Int J Radiat Biol. 1994 Dec;66(6 Suppl):S177-82 PMID: 7836845
  13. Consistent loss of the wild type allele in breast cancers from a family linked to the BRCA2 gene on chromosome 13q12-13.
    Oncogene. 1995 Apr 20;10(8):1673-5 PMID: 7731724
  14. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.
    Nat Genet. 1995 Apr;9(4):439-43 PMID: 7795652
  15. Tumor variation in families with breast cancer.
    JAMA. 1972 Dec 25;222(13):1631-5 PMID: 4678365
  16. Complete nucleotide sequences of the T24 human bladder carcinoma oncogene and its normal homologue.
    Nature. 1983 Mar 3;302(5903):33-7 PMID: 6298635
  17. Human restriction fragment length polymorphisms and cancer risk assessment.
    J Cell Biochem. 1986;30(4):319-29 PMID: 3011817
  18. Ataxia-telangiectasia: an inherited disorder of ionizing-radiation sensitivity in man. Progress in the elucidation of the underlying biochemical defect.
    Hum Genet. 1987 Mar;75(3):197-208 PMID: 3549535
  19. Breast and other cancers in families with ataxia-telangiectasia.
    N Engl J Med. 1987 May 21;316(21):1289-94 PMID: 3574400
  20. Cancer in homozygotes and heterozygotes of ataxia-telangiectasia and xeroderma pigmentosum in Britain.
    Cancer Res. 1988 May 15;48(10):2929-32 PMID: 3359449
  21. A cancer family syndrome in twenty-four kindreds.
    Cancer Res. 1988 Sep 15;48(18):5358-62 PMID: 3409256
  22. Segregation and linkage analysis of nine Utah breast cancer pedigrees.
    Genet Epidemiol. 1988;5(3):151-69 PMID: 3169523
  23. Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.
    Nature. 1988 Dec 8;336(6199):577-80 PMID: 3200306
  24. Suppression of the neoplastic phenotype by replacement of the RB gene in human cancer cells.
    Science. 1988 Dec 16;242(4885):1563-6 PMID: 3201247
  25. Age at onset as an indicator of familial risk of breast cancer.
    Am J Epidemiol. 1990 Jun;131(6):961-72 PMID: 2188501
  26. Using age of onset to distinguish between subforms of breast cancer.
    Ann Hum Genet. 1990 May;54(Pt 2):169-77 PMID: 2382970
  27. Detection of cancer predisposition by hypervariable region analysis.
    Birth Defects Orig Artic Ser. 1990;26(1):129-40 PMID: 2224075
  28. Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms.
    Science. 1990 Nov 30;250(4985):1233-8 PMID: 1978757
  29. Breast cancer and other cancers in Norwegian families with ataxia-telangiectasia.
    Genes Chromosomes Cancer. 1990 Nov;2(4):339-40 PMID: 2268581
  30. Linkage of early-onset familial breast cancer to chromosome 17q21.
    Science. 1990 Dec 21;250(4988):1684-9 PMID: 2270482
  31. Genetic analysis of breast cancer in the cancer and steroid hormone study.
    Am J Hum Genet. 1991 Feb;48(2):232-42 PMID: 1990835
  32. Familial breast-ovarian cancer locus on chromosome 17q12-q23.
    Lancet. 1991 Jul 13;338(8759):82-3 PMID: 1676470
  33. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients.
    Science. 1991 Aug 9;253(5020):665-9 PMID: 1651563
  34. Evaluating genetic association among ovarian, breast, and endometrial cancer: evidence for a breast/ovarian cancer relationship.
    Am J Hum Genet. 1989 Oct;45(4):521-9 PMID: 2491011
  35. The epidemiology of ovarian cancer.
    Gynecol Oncol. 1991 Oct;43(1):9-23 PMID: 1959794
  36. Incidence of cancer in 161 families affected by ataxia-telangiectasia.
    N Engl J Med. 1991 Dec 26;325(26):1831-6 PMID: 1961222
  37. Fte-1, a v-fos transformation effector gene, encodes the mammalian homologue of a yeast gene involved in protein import into mitochondria.
    Proc Natl Acad Sci U S A. 1992 Mar 15;89(6):2200-4 PMID: 1549582
  38. Inherited p53 gene mutations in breast cancer.
    Cancer Res. 1992 May 15;52(10):2984-6 PMID: 1581912
  39. Screening for germ line TP53 mutations in breast cancer patients.
    Cancer Res. 1992 Jun 1;52(11):3234-6 PMID: 1591732
  40. Genetic epidemiology of ovarian cancer: segregation analysis.
    Ann Hum Genet. 1991 Oct;55(Pt 4):291-9 PMID: 1819229
  41. Close physical linkage of the FLT1 and FLT3 genes on chromosome 13 in man and chromosome 5 in mouse.
    Oncogene. 1993 Jan;8(1):173-9 PMID: 8380915
  42. Extracolonic cancer in hereditary nonpolyposis colorectal cancer.
    Cancer. 1993 Feb 1;71(3):677-85 PMID: 8431847
  43. Mutation and cancer: statistical study of retinoblastoma.
    Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3 PMID: 5279523
  44. Allele loss patterns on chromosome 17q in 109 breast carcinomas indicate at least two distinct target regions.
    Oncogene. 1993 Mar;8(3):781-5 PMID: 8437862
  45. A deletion unit on chromosome 17q in epithelial ovarian tumors distal to the familial breast/ovarian cancer locus.
    Cancer Res. 1993 Mar 15;53(6):1218-21 PMID: 8095178
  46. Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. The Breast Cancer Linkage Consortium.
    Am J Hum Genet. 1993 Apr;52(4):678-701 PMID: 8460634
  47. Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome.
    Nat Genet. 1992 Oct;2(2):128-31 PMID: 1303261
  48. A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome.
    Nat Genet. 1992 Oct;2(2):132-4 PMID: 1303262
  49. An association between the risk of cancer and mutations in the HRAS1 minisatellite locus.
    N Engl J Med. 1993 Aug 19;329(8):517-23 PMID: 8336750
  50. Predictive testing for germline mutations in the p53 gene: are all the questions answered?
    Eur J Cancer. 1993;29A(10):1361-5 PMID: 8398258
  51. Androgen receptor gene mutation in male breast cancer.
    Hum Mol Genet. 1993 Nov;2(11):1799-802 PMID: 8281139
  52. Genetic analysis of the BRCA1 region in a large breast/ovarian family: refinement of the minimal region containing BRCA1.
    Hum Mol Genet. 1993 Nov;2(11):1823-8 PMID: 8281142
  53. Mutation of a mutL homolog in hereditary colon cancer.
    Science. 1994 Mar 18;263(5153):1625-9 PMID: 8128251
Article Info
Journal
British journal of cancer
Abbr.
Br J Cancer
ISSN
0007-0920
DOI
10.1038/bjc.1995.417
Published
1995-10-00
Pages
805-12
Language
English
Region
England
NLM ID
0370635
PMCID
PMC2034018
Subset
IM
External Links
PubMed source DOI: 10.1038/bjc.1995.417 PMC Full Text View journal details
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