Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk?

Authors
Evans, D
Woodward, E
Harkness, E
Howell, Anthony
Plaskocinska, I
Maher, E
Tischkowitz, M
Lalloo, F
Affiliation
Division of Evolution and Genomic Science, Manchester Centre for Genomic Medicine, Manchester Academic Health Science Centre, University of Manchester, Manchester, UKManchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK
Issue Date
2018-02-26

Metadata
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Abstract
The identification of BRCA1, BRCA2 or mismatch repair (MMR) pathogenic gene variants in familial breast/ovarian/colorectal cancer families facilitates predictive genetic testing of at-risk relatives. However, controversy still exists regarding overall lifetime risks of cancer in individuals testing positive.
Citation
Penetrance estimates for BRCA1, BRCA2 (also applied to Lynch syndrome) based on presymptomatic testing: a new unbiased method to assess risk? 2018, J Med Genet
Journal
Journal of Medical Genetics
URI
http://hdl.handle.net/10541/620916
DOI
10.1136/jmedgenet-2017-105223
PubMed ID
29483236
Type
Article
Language
en
ISSN
1468-6244
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