Alison H. Trainer

TL;DR: The results suggest that good indicators for subtelomeric defects are prenatal onset of growth retardation and a positive family history for mental retardation, which will improve the diagnostic pick up rate of subtelomere defects among mentally retarded subjects.

TL;DR: Inactivation of cell cycle checkpoints responsive to mitotic spindle disruption, by mutant forms of p53 or Bub1, relieves growth arrest and initiates neoplastic transformation in primary cells homozygous for truncated Brca2.

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.

TL;DR: The data demonstrate the utility of intra-family exome-sequencing approaches to uncover cancer predisposing genes, but highlight the major challenge of definitively validating candidates where the incidence of sporadic disease is high, germline mutations are not fully penetrant, and individual predisposition genes may only account for a tiny proportion of breast cancer families.