Article
Is RNASEL:p.Glu265* a modifier of early-onset breast cancer risk for carriers of high-risk mutations?
BMC cancer - 8 Feb 2018
Nguyen-Dumont Tú, Teo Zhi L, Hammet Fleur, Roberge Alexis, Mahmoodi Maryam, Tsimiklis Helen, Park Daniel J, Pope Bernard J, Lonie Andrew, Kapuscinski Miroslav K, Mahmood Khalid, Goldgar David E, Giles Graham G, Winship Ingrid, Hopper John L, Southey Melissa C
Abstract excerpt
BACKGROUND: Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in families, including genetic modifiers of risk. We considered genetic modifiers of risk for carriers of high-risk mutations in other breast cancer susceptibility genes. METHODS: In a family known to carry the high-risk mutation PALB2:c.3113G>A (p.Trp1038*), whole-exome sequencing was...
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