Low prevalence of germline PALB2 mutations in Australian triple-negative breast cancer.

摘要: Triple-negative breast cancer (TNBC) is a tumour classification that defined by oestrogen receptor, progesterone receptor and human epidermal growth factor 2 negativity. TNBCs share similar gene expression profile to BRCA-mutated tumours, have been shown carry high proportion of BRCA mutations more adverse prognosis compared other types tumours. PALB2 has be moderate-penetrance susceptibility involved in the same DNA damage repair pathway as BRCA1 BRCA2; this raises possibility germline may pathogenesis TNBCs. In our study, we sequenced coding regions (including intron/exon boundaries) genomic from 347 patients diagnosed with TNBC determine prevalence deleterious population. Two novel truncating (c.758dup c.2390del) one previously detected mutation (c.3113+5G>C) were found. addition, five variants predicted protein-affecting also identified. Our study shows individuals ∼1%, 1% familial non-BRCA1/2 cohorts.