+ Site Statistics
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

A population-based assessment of the clustering of breast cancer in families eligible for testing of BRCA1 and BRCA2 mutations

A population-based assessment of the clustering of breast cancer in families eligible for testing of BRCA1 and BRCA2 mutations

Annals of Oncology 16(2): 322-329

The prevalence of families eligible for BRCA1/2 mutation testing in the population burden of breast cancer was analysed and the aggregation of breast cancer in these families was explored. The families of the Swedish Family-Cancer Database with at least three generations (N=944 723) were classified according to the criteria proposed by the German Consortium for Hereditary Breast and Ovarian Cancer for BRCA1/2 mutation testing. We calculated the proportion of women with breast cancer in the classified families and used standardised incidence ratios (SIRs) to estimate the risk of histology specific breast cancers in families with suspected BRCA1/2 mutations. Families with two breast cancers before the age of 50 years included 1.8% of the breast cancer patients; 1% of the women with breast cancer belonged to families with breast and ovarian cancers. The SIR of female breast cancer was lowest in families with male breast cancer and highest in families with two women affected by breast cancer under the age of 50 years. The SIRs of medullary breast cancer agreed with the BRCA1 mutation prevalences detected by the German Consortium for Hereditary Breast and Ovarian Cancer. Most of the breast malignancies in families with male breast cancer are likely to be related to BRCA2 mutations. Non-BRCA1/2 related effects are probably involved in the strong clustering of breast cancer in families with early onset breast and ovarian cancers.

(PDF emailed within 0-6 h: $19.90)

Accession: 048101672

Download citation: RISBibTeXText

PMID: 15668291

DOI: 10.1093/annonc/mdi041

Related references

Risk of cancer at sites other than the breast in Swedish families eligible for BRCA1 or BRCA2 mutation testing. Annals of Oncology 15(12): 1834-1841, 2004

High throughput fluorescence-based conformation-sensitive gel electrophoresis (F-CSGE) identifies six unique BRCA2 mutations and an overall low incidence of BRCA2 mutations in high-risk BRCA1-negative breast cancer families. Human Genetics 102(5): 549-556, 1998

Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil. Genetics and Molecular Biology 39(2): 210-222, 2016

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(5): 1031-1040, 1997

Association between BRCA1 and BRCA2 mutations and cancer phenotype in Spanish breast/ovarian cancer families: Implications for genetic testing. International Journal of Cancer 97(4): 466-471, 1 February, 2002

Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. Genes & Development 11(10): 1226-1241, 1997

Common BRCA1 and BRCA2 mutations in hereditary breast-ovarian cancer families of French-Canadian population. Proceedings of the American Association for Cancer Research Annual Meeting 39: 475, 1998

Screening for common mutations in BRCA1 and BRCA2 genes: interest in genetic testing of Tunisian families with breast and/or ovarian cancer. Bulletin du Cancer 101(11): E36-E40, 2015

Prevalence of BRCA1 and BRCA2 mutations among clinic-based African American families with breast cancer. Human Genetics 107(2): 186-191, 2000

Frequency of BRCA1 and BRCA2 mutations in a clinic-based series of breast and ovarian cancer families. Human Mutation 17(1): 74, 2001

The limited spectrum of pathogenic BRCA1 and BRCA2 mutations in the French Canadian breast and breast-ovarian cancer families, a founder population of Quebec, Canada. Bulletin du Cancer 93(9): 841-846, 2006

Novel BRCA1 and BRCA2 germline mutations and assessment of mutation spectrum and prevalence in Italian breast and/or ovarian cancer families. Breast Cancer Research and Treatment 100(1): 83-91, 2006

Prevalence of BRCA1 genomic rearrangements in a large cohort of Italian breast and breast/ovarian cancer families without detectable BRCA1 and BRCA2 point mutations. Genes, Chromosomes and Cancer 45(9): 791-797, 2006

BRCA1 and BRCA2 analysis in breast cancer families from Sardinia Identification of two BRCA2 founder mutations with their clinical and pathological implications. European Journal of Cancer 37(Supplement 6): S176, 2001

BRCA1 and BRCA2 in breast cancer families from Wales: moderate mutation frequency and two recurrent mutations in BRCA1. British Journal of Cancer 78(11): 1417-1420, 1998