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

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

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8 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)587-595
Number of pages9
JournalFamilial Cancer
Issue number4
Publication statusPublished - 1 Dec 2013
Externally publishedYes


  • BRCA1 and BRCA2 mutation negative
  • Familial cancer centre
  • Hereditary breast cancer
  • PALB2

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