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Title: BRCA1 mutations and other sequence variants in a population-based sample of Australian women with breast cancer
Authors: Southey MC
Porter L
Giles GG
McCredie MR
Hopper JL
Venter DJ
Tesoriero AA
Andersen CR
Jennings KM
Brown SM
Dite GS
Jenkins MA
Osborne RH
Maskiell JA
Keywords: Adult; DNA Primers; epidemiology; Family; Female; Genes,Brca1; genetics; history; Humans; Incidence; Life Style; Amino Acid Substitution; Mutation; pathology; Point Mutation; Polymerase Chain Reaction; Polymorphism,Genetic; Population Surveillance; Prevalence; Random Allocation; Registries; Research; Australia; Research Support,Non-U.S.Gov't; Women; Base Sequence; breast; Breast Neoplasms; cancer; cancer registry; Demography
Pub. Date: 1999
Journal Title: Br J Cancer
Volume: 79
Issue: 1
Page number start: 34
Page number end: 39
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
Programme: Cancer Causes
Division: Cancer Research Division
URI: http://researchpubs.cancercouncil.com.au/cancercounciljspui/handle/1/1364
Appears in Collections:Research Articles

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