, Volume 109, Issue 1, pp 177-179
Date: 05 Jun 2007

Is BRCA2 c.9079 G > A a predisposing variant for early onset breast cancer?

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To the Editor,

Only a small proportion of early onset breast cancer is associated with mutations in known breast cancer susceptibility genes [13]. For example, our work in a population-based case-control-family study of Australian women diagnosed with first primary invasive breast cancer before the age of forty years (Australian Breast Cancer Family Study, ABCFS) [1, 4] has found, after extensive mutation screening, that less than 10% of cases carry germline mutations in BRCA1 and BRCA2 that are known to be cancer predisposing [1, 2, 4, 5]. We have also detected several rare variants in BRCA1 and BRCA2 that currently have an unknown cancer predisposition potential.

In particular, we identified apparent homozygocity of BRCA2 c.9079 G > A in a woman diagnosed with a grade 3 (malignant nuclear grade, mitotic index of 20 mitoses per high powered field and <10% tubule formation) ER+/PR−, infiltrating ductal carcinoma at age 37 years. This tumour morphology was not inconsistent with the morph