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PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS

Abstract:

The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study.We genotyped 10 rare mutations using the custom iCOGS arr...

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

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Publisher copy:
10.1136/jmedgenet-2016-103839

Authors


Southey, MC More by this author
Goldgar, DE More by this author
Winqvist, R More by this author
Pylkäs, K More by this author
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Publisher:
BMJ Publishing Group Publisher's website
Journal:
Journal of Medical Genetics Journal website
Volume:
53
Issue:
12
Pages:
800-811
Publication date:
2016-09-05
Acceptance date:
2016-06-21
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
Pubs id:
pubs:641722
URN:
uri:2fb80b0b-0cdc-4ab2-af3f-96adeda03118
UUID:
uuid:2fb80b0b-0cdc-4ab2-af3f-96adeda03118
Local pid:
pubs:641722
Paper number:
12
Language:
English
Keywords:

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