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BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer.

Abstract：

:The frequency, in women with breast cancer, of mutations and other variants in the susceptibility gene, BRCA1, was investigated using a population-based case-control-family study. Cases were women living in Melbourne or Sydney, Australia, with histologically confirmed, first primary, invasive breast cancer, diagnosed before the age of 40 years, recorded on the state Cancer Registries. Controls were women without breast cancer, frequency-matched for age, randomly selected from electoral rolls. Full manual sequencing of the coding region of BRCA1 was conducted in a randomly stratified sample of 91 cases; 47 with, and 44 without, a family history of breast cancer in a first- or second-degree relative. All detected variants were tested in a random sample of 67 controls. Three cases with a (protein-truncating) mutation were detected. Only one case had a family history; her mother had breast cancer, but did not carry the mutation. The proportion of Australian women with breast cancer before age 40 who carry a germline mutation in BRCA1 was estimated to be 3.8% (95% CI 0.3-12.6%). Seven rare variants were also detected, but for none was there evidence of a strong effect on breast cancer susceptibility. Therefore, on a population basis, rare variants are likely to contribute little to breast cancer incidence.

journal_name

Br J Cancer

journal_title

British journal of cancer

authors

Southey MC,Tesoriero AA,Andersen CR,Jennings KM,Brown SM,Dite GS,Jenkins MA,Osborne RH,Maskiell JA,Porter L,Giles GG,McCredie MR,Hopper JL,Venter DJ

doi

10.1038/sj.bjc.6690008

subject

Has Abstract

pub_date

1999-01-01 00:00:00

pages

34-9

issue

1

eissn

0007-0920

issn

1532-1827

journal_volume

79

pub_type

杂志文章

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