Parental origin of mutation and the risk of breast cancer in a prospective study of women with a BRCA1 or BRCA2 mutation. (7th November 2012)

• Record Type: Journal Article
• Authors: Senst, N; Llacuachaqui, M; Lubinski, J; Lynch, H; Armel, S; Neuhausen, S; Ghadirian, P; Sun, P; Narod, SA
• Is Part Of: Clinical genetics. Volume 84:Number 1(2013:Jul.)
• Page Start: 43
• Page End: 46
• Publication Date: 2012-11-07
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12037
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The objective is to estimate the risk of breast cancer in women who carry a deleterious <italic>BRCA1</italic> or <italic>BRCA2</italic> mutation, according to parental origin of mutation. We conducted a cohort study of women with a <italic>BRCA1</italic> mutation (<italic>n</italic> = 1523) or <italic>BRCA2</italic> mutation (<italic>n</italic> = 369) who had not been diagnosed with breast or ovarian cancer. For each woman, the pedigree was reviewed and the origin of the mutation was assigned as probable paternal or maternal. The hazard ratio (HR) for developing breast cancer in the follow‐up period was estimated for women with a paternal mutation compared to a maternal mutation. The risk of breast cancer was modestly higher in women with a paternal <italic>BRCA1</italic> mutation compared to women with a maternal <italic>BRCA1</italic> mutation (HR = 1.46; 95% CI = 0.99–2.16) but the difference was not significant (p = 0.06). The parental mutation origin did not affect the risk in women with a <italic>BRCA2</italic> mutation. Our results are consistent with the hypothesis that there is an increased risk of breast cancer among women with a paternally inherited <italic>BRCA1</italic> mutation compared to a maternally inherited mutation. However, the data are not sufficiently compelling to justify different screening recommendations for the two subgroups.</p> </abstract>