Journal article

BRCA1 promoter deletions in young women with breast cancer and a strong family history: A population-based study

LD Smith, AA Tesoriero, SJ Ramus, G Dite, SG Royce, GG Giles, MRE McCredie, JL Hopper, MC Southey

EUROPEAN JOURNAL OF CANCER | ELSEVIER SCI LTD | Published : 2007

Abstract

Women diagnosed with breast cancer before the age of 40 years who have a strong family history of breast and/or ovarian cancer were selected from an Australian population-based case-control-family study for large deletion screening within the BRCA1 promoter. Deletions within the BRCA1 promoter region are usually not detected by the methods applied in routine clinical mutation detection strategies. Fifty-one of the 66 women (77%) who met our inclusion criteria were tested for promoter deletions using linkage disequilibrium analysis of two BRCA1 polymorphic sites (C/G1802 and Pro871Leu) and multiplex ligation-dependent probe amplification. Two cases of BRCA1 promoter deletion involving exons 1..

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