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Familial Cancer
Published in: Familial Cancer 4/2013

01-12-2013 | Letter to the Editor

The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia

Authors: Zhi L. Teo, Sarah D. Sawyer, Paul A. James, Gillian Mitchell, Alison H. Trainer, Geoffrey J. Lindeman, Kylie Shackleton, Linda Cicciarelli, Melissa C. Southey

Published in: Familial Cancer | Issue 4/2013

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Abstract

The familial aggregation of breast cancer has been well-described with approximately 25 % of breast cancers attributable to inherited mutations in currently known breast cancer susceptibility genes. PALB2 c.3113G>A (p.Trp1038*) is a protein-truncating mutation which has been associated with high estimated risk of breast cancer in Australian women (91 %; 95 % CI = 44–100) to age 70 years. This study screened for PALB2 c.3113G>A in germline DNA representing 871 unrelated individuals from “high-risk” breast and/or ovarian cancer families evaluated in the setting of a Familial Cancer Centre in Australia. The PALB2 c.3113G>A mutation was identified in eight of 871 probands (0.92 %) from these families. Median age of diagnosis was 42 years. Five of these eight women had contra-lateral breast cancers. Available data suggests that PALB2 c.3113G>A is a rare mutation with estimated breast cancer risks similar in magnitude to that associated with BRCA2 mutations. Although the proportion of high-risk women carrying this PALB2 mutation is low, research efforts should continue in order to effect its translation into clinical genetic testing practice.
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Metadata
Title
The incidence of PALB2 c.3113G>A in women with a strong family history of breast and ovarian cancer attending familial cancer centres in Australia
Authors
Zhi L. Teo
Sarah D. Sawyer
Paul A. James
Gillian Mitchell
Alison H. Trainer
Geoffrey J. Lindeman
Kylie Shackleton
Linda Cicciarelli
Melissa C. Southey
Publication date
01-12-2013
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 4/2013
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-013-9620-4

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