Hereditary Breast Cancer in Men and Women: Genetic Mutations, Cancer Risk and Treatment (2nd Edition)

Dear Colleagues, 

This Special Issue is the second edition of the previous one, "Hereditary Breast Cancer in Men and Women: Genetic Mutations, Cancer Risk and Treatment" (https://www.mdpi.com/journal/cancers/special_issues/GMCRT).

Breast cancer is the most common cancer among women, accounting for about 30% of all cancers. In contrast, breast cancer is a rare disease in men, accounting for less than 1% of all cancers. Approximately 10% of both male and female breast cancer cases are thought to be hereditary, being caused by inherited germ-line mutations in breast cancer susceptibility genes. The genetic architecture of breast cancer susceptibility is similar in men and women, with high-, moderate-, and low-penetrance risk variants, although some differences in the impact of the risk conferred by specific genetic factors have emerged.

The discovery of the first two breast cancer genes, BRCA1 and BRCA2, dates back to more than two decades ago. Since then, the expanding use of next-generation sequencing (NGS), both in research settings and in clinical screenings for breast cancer inheritance in both sexes, has allowed for the identification and validation of additional susceptibility genes, mainly those involved in homologous recombination (HR) repair of DNA double-strand breaks. Moreover, genetic variations in low-penetrance susceptibility loci have been shown to affect male and female breast cancer genetic predisposition and/or to be genetic risk modifiers, particularly through a polygenic inheritance model.

An expanded knowledge on the genetic factors contributing to male and female breast cancer genetics is the first step to improving risk assessment, and may also have important clinical and therapeutic impacts for all patients, regardless of gender. Personalized therapeutic strategies in BRCA-associated tumors, such as the use of PARP inhibitors, have proved very promising and are incorporated in the clinical setting. Additional genetic defects in HR and other DNA repair pathways may also account for constitutional or acquired resistance/sensitivity to PARP inhibitors.

This Special Issue will focus on the genetics of breast cancer in men and women, with the aim of providing more insight into the role of genetic factors in breast cancer risk assessment and as predictive biomarkers for personalized therapy. For this Special Issue of Cancers, we welcome research articles describing novel data, methods, collaborative initiatives, editorials, and reviews related to these topics.

We look forward to receiving your contributions.

Prof. Dr. Laura Ottini
Dr. Valentina Silvestri
Dr. Arianna Nicolussi
Guest Editors

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