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Journal article

Comprehensive cancer-predisposition gene testing in an adult multiple primary tumor series shows a broad range of deleterious variants and atypical tumor phenotypes

Abstract:

Multiple primary tumors (MPTs) affect a substantial proportion of cancer survivors and can result from various causes, including inherited predisposition. Currently, germline genetic testing of MPT-affected individuals for variants in cancer-predisposition genes (CPGs) is mostly targeted by tumor type. We ascertained pre-assessed MPT individuals (with at least two primary tumors by age 60 years or at least three by 70 years) from genetics centers and performed whole-genome sequencing (WGS) on...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1016/j.ajhg.2018.04.013

Authors


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Cancer Research UK Cambridge Cancer Centre More from this funder
European Research Council More from this funder
Medical Research Council More from this funder
National Health Service More from this funder
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Publisher:
Cell Press Publisher's website
Journal:
American Journal of Human Genetics Journal website
Volume:
103
Issue:
1
Pages:
3-18
Publication date:
2018-06-14
Acceptance date:
2018-04-25
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
Pubs id:
pubs:860075
URN:
uri:bc80f094-4f35-4e40-ac4d-35fbcbbcf9dc
UUID:
uuid:bc80f094-4f35-4e40-ac4d-35fbcbbcf9dc
Local pid:
pubs:860075

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