Ricerc@Sapienza

.Breast cancer is the most common malignancy in women worldwide, and ovarian cancer is the most lethal gynecological
malignancy. Women carrying a BRCA1/2 mutation have a very high lifetime risk of developing breast and ovarian cancer.
The only effective risk-reducing strategy in BRCA-mutated women is a prophylactic surgery with bilateral mastectomy
and bilateral salpingo-oophorectomy. However, many women are reluctant to undergo these prophylactic surgeries due

Background: High-grade serous ovarian cancer (HGSOC) causes 80% of all
ovarian cancer (OC) deaths. In this setting, the role of cancer stem-like cells (CSCs) is still unclear.
In particular, the evolution of CSC biomarkers from primary (pOC) to recurrent (rOC)
HGSOCs is unknown. Aim of this study was to investigate changes in CD133 and aldehyde
dehydrogenase-1 (ALDH1) CSC biomarker expression in pOC and rOC HGSOCs.
Methods: Two-hundred and twenty-four pOC and rOC intrapatient paired tissue samples

Background: BRCA1 methylation has been associated with homologous recombination deficiency, a biomarker of platinum sensitivity. Studies evaluating BRCA1-methylated tubal/ovarian cancer (OC) do not consistently support improved survival following platinum chemotherapy. We examine the characteristics of BRCA1-methylated OC in a meta-analysis of individual participant data.

Background: Hormone replacement therapy (HRT) has been tested in women with BRCA1 and BRCA2 mutations who underwent risk-reducing salpingo-oophorectomy (RRSO), but its effect on breast cancer (BC) risk has never been appraised using meta-analysis comparison. We performed the first meta-analysis aimed to clarify whether HRT after RRSO could negatively impact on BC risk in women carriers of BRCA1 and BRCA2 mutations. Methods and material: Pubmed and Scopus databases were searched to retrieve articles written in the English language.

Importance: The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early cancer detection and risk reduction in this population.
Objective: To compare the cancer spectrum and frequencies between male BRCA1 and BRCA2 PV carriers.

Background: Breast cancer (BC) in men is a rare disease, but morbidity and mortality in male BC (MBC) patients is a serious concern. Because of its rarity, to date, clinical management of men with BC has been informed almost entirely by female BC research. However, BC in men and women may behave differently. Inherited mutations in homologous recombination (HR) genes, mainly BRCA1,BRCA2 and PALB2, play a major role in MBC predisposition. MBCs associated with mutations in HR gene are likely to represent a subgroup of tumors with a peculiar tumor phenotype.