Hereditary breast cancer – what we have learned in the last decade

Abstract

This literature review aims to inform and assist physicians and other health professionals in managing all information related to hereditary breast cancer, which is in constant and rapid growth, allowing for improvement in patient care and assistance. In addition, we seek to better identify which patients are eligible for the clinical criteria of association with risk of hereditary breast cancer, based on international recommendations and highlighting the main high and moderate penetrance genes that make up the multigenic panels for germline investigation in breast cancer, as well as the possibilities of clinical management that must be considered when complex decisions are required in clinical practice. Nowadays, there is more interest in population screening, in a greater supply of genetic tests, more genes included in multigene panels — allowing the search for genetic counseling —, apart from the need for clinical-decision support.

Overview of germline variants in the BRCA2 gene in cohort of Brazilian women with a high risk of hereditary breast cancer

“…In this sense, the cause of hereditary predisposition to cancer can be elucidated and help to develop new applications for both the clinic and scientific research 24 . The BRCA2 gene, a tumor suppressor located on chromosome 13, encodes a protein of 3,428 amino acids and is responsible for repairing the breaks in the double strand of DNA, together with the RAD51 protein 25,26 .…”