Valentina Silvestri

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: PRSs may provide informative cancer risk stratification for male carriers of BRCA1/2 mutations that might enable these men and their physicians to make informed decisions on the type and timing of breast and prostate cancer risk management.

TL;DR: It is shown that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCa1/1 FBCs, and a specific B RCA2-associated MBC phenotype is identified characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade).

TL;DR: Overall, much still needs to be learned about MBC and, because of its rarity, the main effort is to develop large consortia for moving forward in understanding and improving the management of MBC patients on a perspective of gender medicine.

TL;DR: Evidence is provided for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.