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Prevention and Screening in BRCA Mutation Carriers and Other Breast/Ovarian Hereditary Cancer Syndromes: ESMO Clinical Practice Guidelines

Published in 2016 – Ann Oncol (2016) 27 (suppl 5): v103-v110 
Authors: S. Paluch-Shimon, F. Cardoso, C. Sessa, J. Balmana, M. J. Cardoso, F. Gilbert and E. Senkus

These guidelines focus on cancer prevention and screening among individuals known to harbour a pathogenic BRCA1/2 mutation. The presence of a BRCA1 or BRCA2 mutation accounts for the majority of hereditary breast and ovarian cancer syndromes. Genetic susceptibility to breast or ovarian cancer might also be associated with mutations in other genes, some of which are associated with known hereditary cancer syndromes. With other genes, the cancer risk association such as is still under research or clinical validation. For initial risk assessment and the decision when to perform genetic counselling and testing, the reader is referred to the recently updated National Comprehensive Cancer Network guidelines on genetic/familial high-risk assessment and The National Institute for Health and Clinical Excellence guidelines.

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