Article
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.
Familial cancer - 1 Dec 2013
Teo Zhi L, Sawyer Sarah D, James Paul A, Mitchell Gillian, Trainer Alison H, Lindeman Geoffrey J, Shackleton Kylie, Cicciarelli Linda, Southey Melissa C
Abstract excerpt
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...
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