Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

Genetic variants of prospectively demonstrated phenocopies in BRCA1/2 kindreds

Abstract Background In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family’s pathogenic variant. These families may have additional genetic variants, which not only may increase the susceptibility of the families’ path_BRC...

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Bibliographic Details
Main Authors: Mev Dominguez-Valentin, D. Gareth R. Evans, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M. Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Format: Article
Language:English
Published: BMC 2018-01-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
BRCA1
BRCA2
Breast cancer
Gene panel testing
RNA splicing
Online Access:http://link.springer.com/article/10.1186/s13053-018-0086-0

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http://link.springer.com/article/10.1186/s13053-018-0086-0

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