Journal article icon

Journal article

Role of rare variants in undetermined multiple adenomatous polyposis and early-onset colorectal cancer

Abstract:

Some 15-20% of multiple adenomatous polyposis have no genetic explanation and 20-30% of colorectal cancer (CRC) cases are thought to be due to inherited multifactorial causes. Accumulation of deleterious effects of low-frequency dominant and independently acting variants may be a partial explanation for such patients. The aim of this study was to type a selection of rare and low-frequency variants (<5%) to elucidate their role in CRC susceptibility. A total of 1181 subjects were included (...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1038/jhg.2012.99

Authors


More by this author
Institution:
University of Oxford
Division:
SSD
Department:
SAME
Sub department:
Human Sciences Institute
Role:
Author
Expand authors...
Cancer Research UK More from this funder
Wellcome Trust More from this funder
Publisher:
Nature Publishing Group Publisher's website
Journal:
Journal of Human Genetics Journal website
Volume:
57
Pages:
709–716
Publication date:
2012-08-09
Acceptance date:
2012-07-13
DOI:
ISSN:
1434-5161 and 1435-232X
Pmid:
22875147
Source identifiers:
345683

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP