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Published in: Breast Cancer Research 1/1999

01-12-1999 | Commentary

How many more breast cancer predisposition genes are there?

Author: Douglas F Easton

Published in: Breast Cancer Research | Issue 1/1999

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Excerpt

Next year marks the 10th anniversary of the mapping of the breast-ovarian cancer susceptibility gene BRCA1 to chromosome 17 [1], and the identification of the TP53 gene as the cause of the Li-Fraumeni syndrome [2]. As a result of these discoveries, and the subsequent discovery of other breast cancer susceptibility genes, notably BRCA2 [3], inherited susceptibility has risen from relative obscurity to have a central role in breast cancer research. Understanding the biological mechanisms that underlie the susceptibility genes has become a major research activity, and of course mutation testing is now a major part of clinical genetics practice, with the prospects for improved prevention and treatment of the disease in women at high risk. Thus, it is natural to ask whether there are any more genes to find, what their characteristics might be and how we might go about finding them. …
Literature
1.
go back to reference Hall JM, Lee MK, Morrow J, et al: Linkage analysis of early onset familial breast cancer to chromosome 17q21. Science . 1990, 250: 1684-1689.CrossRefPubMed Hall JM, Lee MK, Morrow J, et al: Linkage analysis of early onset familial breast cancer to chromosome 17q21. Science . 1990, 250: 1684-1689.CrossRefPubMed
2.
go back to reference Malkin D, Li FP, Strong LC, et al: Germline p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms. Science. 1990, 250: 1233-1238.CrossRefPubMed Malkin D, Li FP, Strong LC, et al: Germline p53 mutations in a familial syndrome of breast cancer, sarcomas and other neoplasms. Science. 1990, 250: 1233-1238.CrossRefPubMed
3.
go back to reference Wooster R, Neuhausen S, Mangion J, et al: Localization of a breast cancer susceptibility gene to chromosome 13q12-q13. Science. 1994, 265: 2088-2090.CrossRefPubMed Wooster R, Neuhausen S, Mangion J, et al: Localization of a breast cancer susceptibility gene to chromosome 13q12-q13. Science. 1994, 265: 2088-2090.CrossRefPubMed
4.
go back to reference 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: 334-345. 10.1086/301749.CrossRef 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: 334-345. 10.1086/301749.CrossRef
5.
go back to reference Peto J, Collins N, Barfoot R, et al: The prevalence of BRCA1 and BRCA2 mutations amongst early onset breast cancer cases in the UK. J Natl Cancer Inst. 1999, 91: 943-949. 10.1093/jnci/91.11.943.CrossRefPubMed Peto J, Collins N, Barfoot R, et al: The prevalence of BRCA1 and BRCA2 mutations amongst early onset breast cancer cases in the UK. J Natl Cancer Inst. 1999, 91: 943-949. 10.1093/jnci/91.11.943.CrossRefPubMed
6.
go back to reference Nelen MR, Padberg GW, Peeters EAJ, et al: Localization of the gene for Cowden disease to 10q22-23. Nat Genet. 1996, 13: 114-116.CrossRefPubMed Nelen MR, Padberg GW, Peeters EAJ, et al: Localization of the gene for Cowden disease to 10q22-23. Nat Genet. 1996, 13: 114-116.CrossRefPubMed
7.
go back to reference Wooster R, Mangion J, Eeles R, et al: A germline mutation in the androgen receptor in two brothers with breast cancer and Reifenstein Syndrome. Nature Genet. 1992, 2: 132-134.CrossRefPubMed Wooster R, Mangion J, Eeles R, et al: A germline mutation in the androgen receptor in two brothers with breast cancer and Reifenstein Syndrome. Nature Genet. 1992, 2: 132-134.CrossRefPubMed
8.
go back to reference Swift M, Morrell D, Massey RB, Chase CL: Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med. 1991, 325: 1831-1836.CrossRefPubMed Swift M, Morrell D, Massey RB, Chase CL: Incidence of cancer in 161 families affected by ataxia-telangiectasia. N Engl J Med. 1991, 325: 1831-1836.CrossRefPubMed
9.
go back to reference Easton DF: Cancer risks in AT heterozygotes [review]. Int J Radiat Biol. 1994, 66 (suppl): S177-S182.CrossRef Easton DF: Cancer risks in AT heterozygotes [review]. Int J Radiat Biol. 1994, 66 (suppl): S177-S182.CrossRef
10.
go back to reference Athma P, Rappaport R, Swift M: Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet. 1996, 92: 130-134. 10.1016/S0165-4608(96)00328-7.CrossRefPubMed Athma P, Rappaport R, Swift M: Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer. Cancer Genet Cytogenet. 1996, 92: 130-134. 10.1016/S0165-4608(96)00328-7.CrossRefPubMed
11.
go back to reference FitzGerald MG, Bean JM, Hegde SR, et al: Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nature Genet. 1997, 15: 307-310.CrossRefPubMed FitzGerald MG, Bean JM, Hegde SR, et al: Heterozygous ATM mutations do not contribute to early onset of breast cancer. Nature Genet. 1997, 15: 307-310.CrossRefPubMed
12.
go back to reference Krontiris TG, Devlin B, Karp DD, Robert NJ, Risch N: An association between the risk of cancer and mutations in the HRAS1 minisatellite locus. N Engl J Med . 1993, 329: 517-523. 10.1056/NEJM199308193290801.CrossRefPubMed Krontiris TG, Devlin B, Karp DD, Robert NJ, Risch N: An association between the risk of cancer and mutations in the HRAS1 minisatellite locus. N Engl J Med . 1993, 329: 517-523. 10.1056/NEJM199308193290801.CrossRefPubMed
13.
go back to reference Hemminki K, Vaittinen P, Kyyronen P: Age-specific familial risks in common cancers of the offspring. Int J Cancer. 1998, 78: 172-175. 10.1002/(SICI)1097-0215(19981005)78:2<172::AID-IJC9>3.3.CO;2-V.CrossRefPubMed Hemminki K, Vaittinen P, Kyyronen P: Age-specific familial risks in common cancers of the offspring. Int J Cancer. 1998, 78: 172-175. 10.1002/(SICI)1097-0215(19981005)78:2<172::AID-IJC9>3.3.CO;2-V.CrossRefPubMed
14.
go back to reference Peto J, Easton DF, Matthews FE, Ford D, Swerdlow AJ: Cancer mortality in relatives of women with breast cancer: the OPCS study. Int J Cancer. 1996, 65: 275-283. 10.1002/(SICI)1097-0215(19960126)65:3<275::AID-IJC1>3.0.CO;2-X.CrossRefPubMed Peto J, Easton DF, Matthews FE, Ford D, Swerdlow AJ: Cancer mortality in relatives of women with breast cancer: the OPCS study. Int J Cancer. 1996, 65: 275-283. 10.1002/(SICI)1097-0215(19960126)65:3<275::AID-IJC1>3.0.CO;2-X.CrossRefPubMed
15.
go back to reference Claus EB, Risch NJ, Thompson WD: Age at onset as an indicator of familial risk of breast cancer. Am J Epidemiol. 1990, 131: 961-972.PubMed Claus EB, Risch NJ, Thompson WD: Age at onset as an indicator of familial risk of breast cancer. Am J Epidemiol. 1990, 131: 961-972.PubMed
16.
go back to reference Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH: A systematic population based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst . 1994, 86: 1600-1608.CrossRefPubMed Goldgar DE, Easton DF, Cannon-Albright LA, Skolnick MH: A systematic population based assessment of cancer risk in first-degree relatives of cancer probands. J Natl Cancer Inst . 1994, 86: 1600-1608.CrossRefPubMed
17.
go back to reference Pharoah P, Day NE, Duffy S, Easton DF, Ponder BAJ: Family history and the risk of breast cancer: a systematic review and meta-analysis. Int J Cancer. 1997, 71: 800-809. 10.1002/(SICI)1097-0215(19970529)71:5<800::AID-IJC18>3.3.CO;2-R.CrossRefPubMed Pharoah P, Day NE, Duffy S, Easton DF, Ponder BAJ: Family history and the risk of breast cancer: a systematic review and meta-analysis. Int J Cancer. 1997, 71: 800-809. 10.1002/(SICI)1097-0215(19970529)71:5<800::AID-IJC18>3.3.CO;2-R.CrossRefPubMed
18.
go back to reference Claus EB, Risch NJ, Thompson WD: Using age of onset to distinguish between subforms of breast cancer. Ann Hum Genet. 1990, 54: 169-177.CrossRefPubMed Claus EB, Risch NJ, Thompson WD: Using age of onset to distinguish between subforms of breast cancer. Ann Hum Genet. 1990, 54: 169-177.CrossRefPubMed
19.
go back to reference Ahlbom A, Lichtenstein P, Malmstrom H, et al: Cancer in twins: genetic and nongenetic familial risk factors. J Natl Cancer Inst. 1997, 89: 287-293. 10.1093/jnci/89.4.287.CrossRefPubMed Ahlbom A, Lichtenstein P, Malmstrom H, et al: Cancer in twins: genetic and nongenetic familial risk factors. J Natl Cancer Inst. 1997, 89: 287-293. 10.1093/jnci/89.4.287.CrossRefPubMed
20.
21.
go back to reference Claus EB, Risch N, Thompson WD: Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet. 1991, 48: 232-242.PubMedPubMedCentral Claus EB, Risch N, Thompson WD: Genetic analysis of breast cancer in the cancer and steroid hormone study. Am J Hum Genet. 1991, 48: 232-242.PubMedPubMedCentral
22.
go back to reference Zuppan P, Hall JM, Lee MK, Ponglikitmongkol M, King MC: Possible linkage of the estrogen receptor gene to breast cancer in a family with late-onset disease. Am J Hum Genet. 1991, 48: 1065-1068.PubMedPubMedCentral Zuppan P, Hall JM, Lee MK, Ponglikitmongkol M, King MC: Possible linkage of the estrogen receptor gene to breast cancer in a family with late-onset disease. Am J Hum Genet. 1991, 48: 1065-1068.PubMedPubMedCentral
23.
go back to reference Kerangueven F, Essioux L, Dib A, et al: Loss of heterozygosity and linkage analysis in breast-carcinoma: indication for a putative 3rd susceptibility gene on the short arm of chromosome 8. Oncogene. 1995, 10: 1023-1026.PubMed Kerangueven F, Essioux L, Dib A, et al: Loss of heterozygosity and linkage analysis in breast-carcinoma: indication for a putative 3rd susceptibility gene on the short arm of chromosome 8. Oncogene. 1995, 10: 1023-1026.PubMed
24.
go back to reference Seitz S, Rohde K, Bender E, et al: Strong indication for a breast cancer susceptibility gene on chromosome 8p12-p22: linkage analysis in German breast cancer families. Oncogene. 1997, 14: 741-743. 10.1038/sj/onc/1200881.CrossRefPubMed Seitz S, Rohde K, Bender E, et al: Strong indication for a breast cancer susceptibility gene on chromosome 8p12-p22: linkage analysis in German breast cancer families. Oncogene. 1997, 14: 741-743. 10.1038/sj/onc/1200881.CrossRefPubMed
25.
go back to reference Ford D, Easton DF, Peto J: Estimates of the gene frequency of BRCA1, and its contribution to breast and ovarian cancer incidence. Am J Hum Genet. 1995, 57: 1457-1462.PubMedPubMedCentral Ford D, Easton DF, Peto J: Estimates of the gene frequency of BRCA1, and its contribution to breast and ovarian cancer incidence. Am J Hum Genet. 1995, 57: 1457-1462.PubMedPubMedCentral
26.
go back to reference Cannon-Albright LA, Thomas A, Goldgar DE, et al: Familiality of cancer in Utah. Cancer Res. 1994, 54: 2378-2385.PubMed Cannon-Albright LA, Thomas A, Goldgar DE, et al: Familiality of cancer in Utah. Cancer Res. 1994, 54: 2378-2385.PubMed
27.
go back to reference Claus EB, Risch N, Thompson WD, Carter D: Relationship between breast histopathology and family history of breast cancer. Cancer. 1993, 71: 147-153.CrossRefPubMed Claus EB, Risch N, Thompson WD, Carter D: Relationship between breast histopathology and family history of breast cancer. Cancer. 1993, 71: 147-153.CrossRefPubMed
28.
go back to reference Breast Cancer Linkage Consortium : The pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet. 1997, 349: 1505-1510. 10.1016/S0140-6736(96)10109-4.CrossRef Breast Cancer Linkage Consortium : The pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet. 1997, 349: 1505-1510. 10.1016/S0140-6736(96)10109-4.CrossRef
29.
go back to reference Haluska MK, Fan J-B, Bentley K, et al: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nature Genet. 1999, 22: 239-247. 10.1038/10297.CrossRef Haluska MK, Fan J-B, Bentley K, et al: Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis. Nature Genet. 1999, 22: 239-247. 10.1038/10297.CrossRef
30.
go back to reference Cargill M, Altshuler D, Ireland J, et al: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet. 1999, 22: 231-238. 10.1038/10290.CrossRefPubMed Cargill M, Altshuler D, Ireland J, et al: Characterization of single-nucleotide polymorphisms in coding regions of human genes. Nature Genet. 1999, 22: 231-238. 10.1038/10290.CrossRefPubMed
31.
go back to reference Dunning AM, Healey CS, Teare MD, Pharoah PDP, Ponder BAJ, Easton DS: A systematic review of genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 1999, Dunning AM, Healey CS, Teare MD, Pharoah PDP, Ponder BAJ, Easton DS: A systematic review of genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 1999,
Metadata
Title
How many more breast cancer predisposition genes are there?
Author
Douglas F Easton
Publication date
01-12-1999
Publisher
BioMed Central
Published in
Breast Cancer Research / Issue 1/1999
Electronic ISSN: 1465-542X
DOI
https://doi.org/10.1186/bcr6

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