Susan M. Domchek

TL;DR: The results provide substantial evidence that the BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) variant, demonstrating ambiguous functional deficiency across multiple assays, is associated with intermediate risk of breast and ovarian cancer, highlighting challenges for risk modelling and clinical management of patients of this and other potential moderate-risk variants.

TL;DR: For screened women at familial/genetic ovarian cancer risk, ROCA q3 months had better early-stage sensitivity at high specificity, and low yet possibly acceptable PPV compared with CA125 > 35 U/mL q6/q12 months, warranting further larger cohort evaluation.

TL;DR: Four previously unidentified loci are identified including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus close to PPIL3 that display genome-wide significant associations with ER-negative breast cancer.

TL;DR: The IMPACT study as discussed by the authors showed that the positive predictive value of PSA screening in BRCA mutation carriers is high and that screening detects clinically significant prostate cancer, which supports the rationale for continued screening in such men.

TL;DR: The present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCa1 and BRCA2 mutation carriers.