Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example

Informing patients about their mutation tests: CDKN2A c.256G>A in melanoma as an example

Abstract Background When germline mutations are suspected as causal in cancer, patient DNA may be sequenced to detect variants in relevant genes. If a particular mutation has not been reported in reliable family studies, genetic counselors are facing a dilemma of appropriately informing patients. Ma...

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Bibliographic Details
Main Authors: Kari Hemminki, Aayushi Srivastava, Sivaramakrishna Rachakonda, Obul Bandapalli, Eduardo Nagore, Akseli Hemminki, Rajiv Kumar
Format: Article
Language:English
Published: BMC 2020-07-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
Genetic counseling
Melanoma suppressor gene
Functionality
Deleteriousness
Online Access:http://link.springer.com/article/10.1186/s13053-020-00146-x

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http://link.springer.com/article/10.1186/s13053-020-00146-x

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