Journal article

Comparing the frequency of common genetic variants and haplotypes between carriers and non-carriers of BRCA1 and BRCA2 deleterious mutations in Australian women diagnosed with breast cancer before 40 years of age

Lidija Turkovic, Lyle C Gurrin, Melanie Bahlo, Gillian S Dite, Melissa C Southey, John L Hopper



BACKGROUND: BRCA1 and BRCA2 mutations are found in a proportion of families with multiple early-onset breast cancers. There are a large number of different deleterious mutations in both genes, none of which would be detectable using standard genetic association studies. Single common variants and haplotypes of common variants may capture groups of deleterious mutations since some low prevalence haplotypes of common variants occur more frequently among chromosomes that carry rare, deleterious mutations than chromosomes that do not. METHODS: DNA sequence data for BRCA1 and BRCA2 was obtained from 571 participants from the Australian Breast Cancer Family Study. Genetic variants were classified ..

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Funding Acknowledgements

We are grateful to all the individuals who participated in this research, and thank the interviewing staff and co-ordinators, the database management team and directors and the laboratory staff and managers. This research was funded in part by the National Health and Medical Research Council (NHMRC) of Australia and the National Institutes of Health (NIH) in the USA. Lyle C Gurrin, Melissa J Southey and John L Hopper are supported by the NHMRC.