Lucy Side

TL;DR: Integrated analyses of genes and regulatory biofeatures at each locus predicted candidate susceptibility genes, including OBFC1, a new candidate susceptibility gene for low-grade and borderline serous EOC.

TL;DR: These data represent results from the first study to correlate a specific small mutation of the NF1 gene to the expression of a particular clinical phenotype, and the biological mechanism that relates this specific mutation to the suppression of cutaneous neurofibroma development is unknown.

TL;DR: A genome-wide association study (GWAS) of predominantly estrogen receptor (ER)-positive disease and BRCA1 mutation carrier GWAS observed consistent associations with ER-negative disease for 105 susceptibility variants identified by other studies, which explain approximately 16% of the familial risk of this breast cancer subtype.

TL;DR: PALB2 is confirmed as a major breast cancer susceptibility gene and substantial associations between germline PALB2 PVs and ovarian, pancreatic, and male breast cancers are established.

TL;DR: In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations.