Home LiteratureArticle Details
PMID: 15557796 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

The genetic epidemiology of breast cancer genes.

Journal of mammary gland biology and neoplasia ·Vol. 9 ·No. 3 ·2004-07-00 ·Pages 221-36

Thompson D, Easton D

Abstract

Genetic susceptibility to breast cancer in women is conferred by a large number of genes, of which six have so far been identified. In the context of multiple-case families, BRCA1 and BRCA2 are the most important. Mutations in these genes confer high lifetime risks of breast cancer and ovarian cancer, and more moderate risks of prostate cancer and some other cancer types. Mutations in the CHEK2 and ATM genes, by contrast, cause much more modest (2-4 fold) risks of breast cancer. Genes so far identified explain approximately 20% of the familial aggregation of breast cancer. The remaining susceptibility genes have, so far, proved illusive, suggesting that they are numerous and confer moderate risks. A variety of techniques including genome-wide association studies, use of quantitative intermediate endpoints, and resequencing of genes may be required to identify them. The identification of such genes can provide a basis for targeted prevention of breast cancer.

MeSH Terms
Ataxia Telangiectasia Ataxia Telangiectasia Mutated Proteins Breast Neoplasms/epidemiology,genetics Cell Cycle Proteins/genetics Checkpoint Kinase 2 DNA-Binding Proteins/genetics Female Genes, BRCA1 Genes, BRCA2 Genetic Predisposition to Disease Humans Leucine Zippers Molecular Epidemiology Mutation Pedigree Phosphatidylinositol 3-Kinases Protein Serine-Threonine Kinases/genetics Risk Factors Tumor Suppressor Proteins/genetics
Chemicals
Cell Cycle Proteins DNA-Binding Proteins Tumor Suppressor Proteins Checkpoint Kinase 2 ATM protein, human Ataxia Telangiectasia Mutated Proteins CHEK2 protein, human Protein Serine-Threonine Kinases
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Thompson Deborah
Cancer Research UK Genetic Epidemiology Unit, University of Cambridge, Cambridge, UK.
Easton Douglas
References (125)
125 references, click to expand
  1. BRCA1 mutations and breast cancer in the general population: analyses in women before age 35 years and in women before age 45 years with first-degree family history.
    JAMA. 1998 Mar 25;279(12):922-9 PMID: 9544766
  2. Survival and tumor characteristics of German hereditary breast cancer patients.
    Breast Cancer Res Treat. 2000 Jan;59(2):185-92 PMID: 10817354
  3. BRCA2 mutation in Icelandic prostate cancer patients.
    J Mol Med (Berl). 1997 Oct;75(10):758-61 PMID: 9383000
  4. 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
  5. Familial invasive breast cancers: worse outcome related to BRCA1 mutations.
    J Clin Oncol. 2000 Dec 15;18(24):4053-9 PMID: 11118466
  6. Cancer Incidence in BRCA1 mutation carriers.
    J Natl Cancer Inst. 2002 Sep 18;94(18):1358-65 PMID: 12237281
  7. Somatic deletions in hereditary breast cancers implicate 13q21 as a putative novel breast cancer susceptibility locus.
    Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9603-8 PMID: 10944226
  8. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium.
    Am J Hum Genet. 1998 Mar;62(3):676-89 PMID: 9497246
  9. Cancer mortality in relatives of women with ovarian cancer: the OPCS Study. Office of Population Censuses and Surveys.
    Int J Cancer. 1996 Jan 26;65(3):284-94 PMID: 8575846
  10. Differential contributions of BRCA1 and BRCA2 to early-onset breast cancer.
    N Engl J Med. 1997 May 15;336(20):1416-21 PMID: 9145678
  11. Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene.
    Nat Genet. 1997 Jan;15(1):103-5 PMID: 8988179
  12. Frequency of breast cancer attributable to BRCA1 in a population-based series of American women.
    JAMA. 1998 Mar 25;279(12):915-21 PMID: 9544765
  13. BRCA1 mutations in southern England.
    Br J Cancer. 1998 Jun;77(12):2199-203 PMID: 9649133
  14. Differential effects of reproductive factors on the risk of pre- and postmenopausal breast cancer. Results from a large cohort of French women.
    Br J Cancer. 2002 Mar 4;86(5):723-7 PMID: 11875733
  15. Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population.
    Am J Hum Genet. 1997 Feb;60(2):313-9 PMID: 9012404
  16. Cancer risks in A-T heterozygotes.
    Int J Radiat Biol. 1994 Dec;66(6 Suppl):S177-82 PMID: 7836845
  17. Variation in cancer risks, by mutation position, in BRCA2 mutation carriers.
    Am J Hum Genet. 2001 Feb;68(2):410-9 PMID: 11170890
  18. Oral contraceptives and the risk of breast cancer in BRCA1 and BRCA2 mutation carriers.
    J Natl Cancer Inst. 2002 Dec 4;94(23):1773-9 PMID: 12464649
  19. BRCA2 germline mutations in male breast cancer patients in the Polish population.
    Hum Mutat. 2001;17(1):73 PMID: 11139248
  20. Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population.
    Hum Mol Genet. 1997 Feb;6(2):285-9 PMID: 9063749
  21. The frequency of germ-line mutations in the breast cancer predisposition genes BRCA1 and BRCA2 in familial prostate cancer. The Cancer Research Campaign/British Prostate Group United Kingdom Familial Prostate Cancer Study Collaborators.
    Cancer Res. 2000 Aug 15;60(16):4513-8 PMID: 10969800
  22. A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes.
    Nat Genet. 1996 May;13(1):117-9 PMID: 8673089
  23. CAG and GGC repeat polymorphisms in the androgen receptor gene and breast cancer susceptibility in BRCA1/2 carriers and non-carriers.
    Br J Cancer. 2001 Jul 6;85(1):36-40 PMID: 11437399
  24. Apparent human BRCA1 knockout caused by mispriming during polymerase chain reaction: implications for genetic testing.
    Genes Chromosomes Cancer. 2001 May;31(1):96-8 PMID: 11284041
  25. Evaluation of linkage of breast cancer to the putative BRCA3 locus on chromosome 13q21 in 128 multiple case families from the Breast Cancer Linkage Consortium.
    Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):827-31 PMID: 11792833
  26. A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer.
    Am J Hum Genet. 2002 Aug;71(2):432-8 PMID: 12094328
  27. The lifetime risks of breast cancer in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations.
    Cancer Epidemiol Biomarkers Prev. 2001 May;10(5):467-73 PMID: 11352856
  28. Parity, oral contraceptives, and the risk of ovarian cancer among carriers and noncarriers of a BRCA1 or BRCA2 mutation.
    N Engl J Med. 2001 Jul 26;345(4):235-40 PMID: 11474660
  29. Cancer risks in BRCA2 mutation carriers.
    J Natl Cancer Inst. 1999 Aug 4;91(15):1310-6 PMID: 10433620
  30. Molecular portraits of human breast tumours.
    Nature. 2000 Aug 17;406(6797):747-52 PMID: 10963602
  31. Dominant negative ATM mutations in breast cancer families.
    J Natl Cancer Inst. 2002 Feb 6;94(3):205-15 PMID: 11830610
  32. Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.
    Am J Hum Genet. 2003 Jan;72(1):1-12 PMID: 12474142
  33. Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility.
    Am J Hum Genet. 2003 Apr;72(4):1023-8 PMID: 12610780
  34. Recurrent BRCA2 6174delT mutations in Ashkenazi Jewish women affected by breast cancer.
    Nat Genet. 1996 May;13(1):126-8 PMID: 8673092
  35. The rate of the founder Jewish mutations in BRCA1 and BRCA2 in prostate cancer patients in Israel.
    Br J Cancer. 2000 Aug;83(4):463-6 PMID: 10945492
  36. Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland.
    N Engl J Med. 2000 Jul 13;343(2):78-85 PMID: 10891514
  37. Breast cancer risk after bilateral prophylactic oophorectomy in BRCA1 mutation carriers.
    J Natl Cancer Inst. 1999 Sep 1;91(17):1475-9 PMID: 10469748
  38. BRCA2 germ-line mutations are frequent in male breast cancer patients without a family history of the disease.
    Cancer Res. 1998 Apr 1;58(7):1367-71 PMID: 9537231
  39. BRCA2 germline mutations in male breast cancer cases and breast cancer families.
    Nat Genet. 1996 May;13(1):123-5 PMID: 8673091
  40. How many more breast cancer predisposition genes are there?
    Breast Cancer Res. 1999;1(1):14-7 PMID: 11250676
  41. Polyglutamine repeat length in the AIB1 gene modifies breast cancer susceptibility in BRCA1 carriers.
    Int J Cancer. 2004 Jan 20;108(3):399-403 PMID: 14648706
  42. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.
    Nat Genet. 1995 Dec;11(4):428-33 PMID: 7493024
  43. A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes.
    Br J Cancer. 2002 Jan 7;86(1):76-83 PMID: 11857015
  44. High constant incidence in twins and other relatives of women with breast cancer.
    Nat Genet. 2000 Dec;26(4):411-4 PMID: 11101836
  45. Variation in BRCA1 cancer risks by mutation position.
    Cancer Epidemiol Biomarkers Prev. 2002 Apr;11(4):329-36 PMID: 11927492
  46. Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype.
    Am J Hum Genet. 1996 Apr;58(4):749-56 PMID: 8644738
  47. Modification of BRCA1- and BRCA2-associated breast cancer risk by AIB1 genotype and reproductive history.
    Cancer Res. 2001 Jul 15;61(14):5420-4 PMID: 11454686
  48. Contributions of ATM mutations to familial breast and ovarian cancer.
    Cancer Res. 2003 Jun 15;63(12):3325-33 PMID: 12810666
  49. BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer.
    Am J Hum Genet. 2000 Apr;66(4):1259-72 PMID: 10739756
  50. A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability.
    Nat Genet. 2000 Nov;26(3):362-4 PMID: 11062481
  51. A common mutation in BRCA2 that predisposes to a variety of cancers is found in both Jewish Ashkenazi and non-Jewish individuals.
    Cancer Res. 1996 Aug 1;56(15):3409-14 PMID: 8758903
  52. Study of a single BRCA2 mutation with high carrier frequency in a small population.
    Am J Hum Genet. 1997 May;60(5):1079-84 PMID: 9150155
  53. Familial breast cancer: collaborative reanalysis of individual data from 52 epidemiological studies including 58,209 women with breast cancer and 101,986 women without the disease.
    Lancet. 2001 Oct 27;358(9291):1389-99 PMID: 11705483
  54. Polymorphisms associated with circulating sex hormone levels in postmenopausal women.
    J Natl Cancer Inst. 2004 Jun 16;96(12 ):936-45 PMID: 15199113
  55. Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Anglian Breast Cancer Study Group.
    Br J Cancer. 2000 Nov;83(10 ):1301-8 PMID: 11044354
  56. Common polymorphisms in checkpoint kinase 2 are not associated with breast cancer risk.
    Cancer Epidemiol Biomarkers Prev. 2003 Aug;12(8):809-12 PMID: 12917215
  57. Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?
    Cancer Res. 2004 Feb 1;64(3):840-3 PMID: 14871810
  58. ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
    Am J Hum Genet. 1998 Feb;62(2):334-45 PMID: 9463314
  59. Characteristics relating to ovarian cancer risk: collaborative analysis of 12 US case-control studies. II. Invasive epithelial ovarian cancers in white women. Collaborative Ovarian Cancer Group.
    Am J Epidemiol. 1992 Nov 15;136(10):1184-203 PMID: 1476141
  60. BRCA-associated breast cancer in young women.
    J Clin Oncol. 1998 May;16(5):1642-9 PMID: 9586873
  61. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer.
    N Engl J Med. 1996 Jan 18;334(3):143-9 PMID: 8531968
  62. The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype.
    Am J Hum Genet. 2003 May;72(5):1308-14 PMID: 12690581
  63. A human BRCA1 gene knockout.
    Nature. 1995 Jun 15;375(6532):541-2 PMID: 7791869
  64. Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.
    J Natl Cancer Inst. 1999 Jun 2;91(11):943-9 PMID: 10359546
  65. Tumour biological features of BRCA1-induced breast and ovarian cancer.
    Eur J Cancer. 1997 Mar;33(3):362-71 PMID: 9155518
  66. The BRCA2 372 HH genotype is associated with risk of breast cancer in Australian women under age 60 years.
    Cancer Epidemiol Biomarkers Prev. 2002 Apr;11(4):413-6 PMID: 11927503
  67. Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients.
    Am J Hum Genet. 1998 Jul;63(1):45-51 PMID: 9634504
  68. Identification of the breast cancer susceptibility gene BRCA2.
    Nature. 1995 Dec 21-28;378(6559):789-92 PMID: 8524414
  69. Germline BRCA2 mutations in men with breast cancer.
    Br J Cancer. 1997;76(11):1428-31 PMID: 9400938
  70. BRCA1 and BRCA2 and the genetics of breast and ovarian cancer.
    Hum Mol Genet. 2001 Apr;10(7):705-13 PMID: 11257103
  71. Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities.
    Nat Genet. 1996 Feb;12(2):191-4 PMID: 8563759
  72. Heterozygous ATM mutations do not contribute to early onset of breast cancer.
    Nat Genet. 1997 Mar;15(3):307-10 PMID: 9054948
  73. Biallelic inactivation of BRCA2 in Fanconi anemia.
    Science. 2002 Jul 26;297(5581):606-9 PMID: 12065746
  74. BRCA1 mutations and clinicopathological features in a sample of Italian women with early-onset breast cancer.
    Eur J Cancer. 2000 Oct;36(16):2083-9 PMID: 11044645
  75. Survival of breast cancer patients in BRCA1, BRCA2, and non-BRCA1/2 breast cancer families: a relative survival analysis from Finland.
    Int J Cancer. 2001 Aug 1;93(3):368-72 PMID: 11433401
  76. Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence.
    Am J Hum Genet. 1995 Dec;57(6):1457-62 PMID: 8533776
  77. The 185delAG BRCA1 mutation originated before the dispersion of Jews in the diaspora and is not limited to Ashkenazim.
    Hum Mol Genet. 1998 May;7(5):801-5 PMID: 9536083
  78. A single nucleotide polymorphism in the RAD51 gene modifies cancer risk in BRCA2 but not BRCA1 carriers.
    Proc Natl Acad Sci U S A. 2001 Mar 13;98(6):3232-6 PMID: 11248061
  79. BRCA2 mutation carriers, reproductive factors and breast cancer risk.
    Breast Cancer Res. 2003;5(5):R121-8 PMID: 12927042
  80. Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome.
    Science. 1999 Dec 24;286(5449):2528-31 PMID: 10617473
  81. Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study.
    Genet Epidemiol. 2001 Jul;21(1):1-18 PMID: 11443730
  82. Tumorigenesis and a DNA repair defect in mice with a truncating Brca2 mutation.
    Nat Genet. 1997 Dec;17(4):423-30 PMID: 9398843
  83. The APCI1307K allele and breast cancer risk.
    Nat Genet. 1998 Sep;20(1):13-4 PMID: 9731522
  84. Breast cancer, Cowden disease and PTEN-MATCHS syndrome.
    Eur J Surg Oncol. 2001 Sep;27(6):604-6 PMID: 11520097
  85. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium.
    Lancet. 1997 May 24;349(9064):1505-10 PMID: 9167459
  86. Cancer mortality in relatives of women with breast cancer: the OPCS Study. Office of Population Censuses and Surveys.
    Int J Cancer. 1996 Jan 26;65(3):275-83 PMID: 8575845
  87. Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2.
    Science. 2003 Oct 24;302(5645):643-6 PMID: 14576434
  88. High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients.
    Cancer Res. 1996 Aug 15;56(16):3663-5 PMID: 8706004
  89. Prediction of pathogenic mutations in patients with early-onset breast cancer by family history.
    Lancet. 2003 Mar 29;361(9363):1101-2 PMID: 12672316
  90. Double heterozygotes for the Ashkenazi founder mutations in BRCA1 and BRCA2 genes.
    Am J Hum Genet. 1998 Oct;63(4):1224-7 PMID: 9758598
  91. Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families.
    Hum Mol Genet. 2003 May 1;12(9):1055-61 PMID: 12700174
  92. Gene expression profiles of BRCA1-linked, BRCA2-linked, and sporadic ovarian cancers.
    J Natl Cancer Inst. 2002 Jul 3;94(13):990-1000 PMID: 12096084
  93. Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22.
    Oncogene. 2000 Aug 24;19(36):4170-3 PMID: 10962578
  94. Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations.
    J Natl Cancer Inst. 1998 Aug 5;90(15):1138-45 PMID: 9701363
  95. The pathology of familial breast cancer: predictive value of immunohistochemical markers estrogen receptor, progesterone receptor, HER-2, and p53 in patients with mutations in BRCA1 and BRCA2.
    J Clin Oncol. 2002 May 1;20(9):2310-8 PMID: 11981002
  96. 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 Epidemiol Biomarkers Prev. 1999 Sep;8(9):741-7 PMID: 10498392
  97. Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group.
    Lancet. 2000 Dec 2;356(9245):1876-81 PMID: 11130383
  98. Genome-wide scanning for linkage in Finnish breast cancer families.
    Eur J Hum Genet. 2004 Feb;12(2):98-104 PMID: 14560309
  99. Prevalence and penetrance of BRCA1 and BRCA2 gene mutations in unselected Ashkenazi Jewish women with breast cancer.
    J Natl Cancer Inst. 1999 Jul 21;91(14):1241-7 PMID: 10413426
  100. P53 germline mutations in childhood cancers and cancer risk for carrier individuals.
    Br J Cancer. 2000 Jun;82(12):1932-7 PMID: 10864200
  101. Segregation and linkage analysis of nine Utah breast cancer pedigrees.
    Genet Epidemiol. 1988;5(3):151-69 PMID: 3169523
  102. 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
  103. Germline BRCA1 185delAG mutations in Jewish women with breast cancer.
    Lancet. 1996 Jun 15;347(9016):1643-5 PMID: 8642955
  104. 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
  105. Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families.
    Nat Genet. 1994 Dec;8(4):392-8 PMID: 7894492
  106. Germline BRCA1 mutations and a basal epithelial phenotype in breast cancer.
    J Natl Cancer Inst. 2003 Oct 1;95(19):1482-5 PMID: 14519755
  107. Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado.
    Cancer. 2003 Aug 1;98(3):597-602 PMID: 12879478
  108. Strong indication for a breast cancer susceptibility gene on chromosome 8p12-p22: linkage analysis in German breast cancer families.
    Oncogene. 1997 Feb 13;14(6):741-3 PMID: 9038382
  109. The founder mutations 185delAG 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 Mar;60(3):505-14 PMID: 9042909
  110. Risk models for familial ovarian and breast cancer.
    Genet Epidemiol. 2000 Feb;18(2):173-90 PMID: 10642429
  111. Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer.
    J Natl Cancer Inst. 2001 Aug 15;93(16):1215-23 PMID: 11504767
  112. Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations.
    J Natl Cancer Inst. 1999 Mar 3;91(5):469-73 PMID: 10070948
  113. Linkage of early-onset familial breast cancer to chromosome 17q21.
    Science. 1990 Dec 21;250(4988):1684-9 PMID: 2270482
  114. Complete genomic sequence and analysis of 117 kb of human DNA containing the gene BRCA1.
    Genome Res. 1996 Nov;6(11):1029-49 PMID: 8938427
  115. A single nucleotide polymorphism in the 5' untranslated region of RAD51 and risk of cancer among BRCA1/2 mutation carriers.
    Cancer Epidemiol Biomarkers Prev. 2001 Sep;10(9):955-60 PMID: 11535547
  116. Mutations and alternative splicing of the BRCA1 gene in UK breast/ovarian cancer families.
    Genes Chromosomes Cancer. 1997 Feb;18(2):102-10 PMID: 9115959
  117. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.
    Nat Genet. 1996 Mar;12(3):333-7 PMID: 8589730
  118. Hereditary breast cancer: pathobiology, prognosis, and BRCA1 and BRCA2 gene linkage.
    Cancer. 1996 Feb 15;77(4):697-709 PMID: 8616762
  119. A systematic review of genetic polymorphisms and breast cancer risk.
    Cancer Epidemiol Biomarkers Prev. 1999 Oct;8(10):843-54 PMID: 10548311
  120. CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.
    Am J Hum Genet. 2004 Jun;74(6):1175-82 PMID: 15122511
  121. Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.
    Hum Mol Genet. 1996 Jun;5(6):835-42 PMID: 8776600
  122. Modification of BRCA1-associated breast cancer risk by the polymorphic androgen-receptor CAG repeat.
    Am J Hum Genet. 1999 May;64(5):1371-7 PMID: 10205268
  123. p53, CHK2, and CHK1 genes in Finnish families with Li-Fraumeni syndrome: further evidence of CHK2 in inherited cancer predisposition.
    Cancer Res. 2001 Aug 1;61(15):5718-22 PMID: 11479205
  124. Breast cancer risk reduction associated with the RAD51 polymorphism among carriers of the BRCA1 5382insC mutation in Poland.
    Cancer Epidemiol Biomarkers Prev. 2003 May;12(5):457-9 PMID: 12750242
  125. Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies.
    Am J Hum Genet. 2003 May;72(5):1117-30 PMID: 12677558
Article Info
Journal
Journal of mammary gland biology and neoplasia
Abbr.
J Mammary Gland Biol Neoplasia
ISSN
1083-3021
DOI
10.1023/B:JOMG.0000048770.90334.3b
Published
2004-07-00
Pages
221-36
Language
English
Region
United States
NLM ID
9601804
Subset
IM
External Links
PubMed source DOI: 10.1023/B:JOMG.0000048770.90334.3b View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: [email protected]

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2