Dear colleagues,

Fanconi Anemia (FA) is an autosomal recessive or X-linked recessive genetic disease characterized by an enhanced risk of developing cancer. It has been known that four of the FA genes FANCD1/BRCA2, FANCN/PALB2, FANCJ/BRIP1, and FANCO/RAD51C are also hereditary breast cancer genes.

Therefore, this Special Issue focuses on the interaction of both: the Fanconi Anemia pathway, and the molecular mechanisms of breast cancer development with a special focus on hereditary breast cancer.

High risk is conferred by the highly penetrant BRCA1 and BRCA2 genes as well as by other genes such as RAD51C or the Fanconi Anemia genes. Genes for breast cancer that were originally designated as moderately penetrant display higher penetrance than previously thought in families with a hereditary predisposition.

Because these genes play a major role in DNA repair it explains why tumours associated with such a mutation are more sensitive to platin derived chemotherapy and PARP inhibitor therapies. In carriers of BRCA1 and BRCA2, prophylactic bilateral mastectomy and adnexectomy significantly lowers the incidence of breast and ovarian cancer. Moreover, prophylactic adnexectomy also lowers the breast-and-ovarian-cancer-specific mortality, as well as the overall mortality.

Submissions from all fields of gene mutation in hereditary breast cancer and especially in the FA related genes are invited, starting with the 1st of September 2020.

Prof. Dr. med. Nina Ditsch
Guest Editor

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• mammary tumors
• Fanconi Anemia pathway
• BRCA1 and BRCA2 genes
• hereditary breast cancer