Rare mutations in RINT1 predispose carriers to breast and

摘要: Approximately half of the familial aggregation of breast cancer remains unexplained. A multiplecase breast cancer family exome sequencing study identified three likely pathogenic mutations in RINT1 (NM_021930. 4) not present in public sequencing databases: RINT1 c. 343C> T (p. Q115X), c. 1132_1134del (p. M378del) and c. 1207G> T (p. D403Y). Based on this finding, a population-based case-control mutation-screening study was conducted and identified 29 carriers of rare (MAF< 0.5%), likely pathogenic variants: 23 in 1,313 early-onset breast cancer cases and 6 in 1,123 frequency-matched controls (OR= 3.24, 95% CI 1.29-8.17; p= 0.013).