… 3113G>A in eight women and PALB2 c.196C>T in one woman), two frameshift mutations
(… We report this and the carrier frequency of PALB2 c.3113G>A in the kConFab resource in …

… and quantify the occurrence of a critical list of high-frequency germline PALB2 predicted …
3113G > A variant may lead to exposure of a nuclear export sequence (NES) hidden in the …

… Hence, we aimed to establish the contribution of PALB2 c.3113G>A to breast cancer in the
group of women assessed as ‘high risk’ on the basis … To determine the prevalence of PALB2 c.…

… prevalence of PALB2 variants in these populations by analyzing large-scale genomic
databases. Understanding the frequency of PALB2 … the estimated prevalence of PALB2 variants …

… Overall, PALB2-related breast cancers appear to be more biologically similar to BRCA2- …
for familial PALB2 cases than for either sporadic or familial (non-BRCA1, BRCA2, or PALB2) …

… We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.…
cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10 −5 ), …

… We estimated from analyses of case carrier families that carriers of the PALB2 c.3113G > A
mutation who are relatives of unselected case carriers have a high risk of developing breast …

… (TN) tumors were enriched in cases with PALB2 PGVs compared with all breast cancers …
PGVs reported by Yang et al., 8 while PGVs were distributed throughout PALB2, c.3113G>A …

… the full prevalence and spectrum of PALB2 germline mutations in China and the associations
between PALB2 … 3113G>A, did not occur in our study. This further underlines the variety of …

… 3113G>A and c.3549C>G have been reported by several … incidence in these 17 first-degree
female relatives of PALB2 … incidence in first-degree relatives of noncarrier cases, and from …