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rdf:type |
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lifeskim:mentions |
umls-concept:C0006142,
umls-concept:C0020792,
umls-concept:C0031809,
umls-concept:C0035647,
umls-concept:C0043210,
umls-concept:C0205314,
umls-concept:C0205419,
umls-concept:C0679622,
umls-concept:C1424448,
umls-concept:C1556084,
umls-concept:C1880177
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pubmed:dateCreated |
2008-9-9
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pubmed:abstractText |
BRCA1 and BRCA2 account for the majority of the known familial breast cancer risk, however, the impact of other cancer susceptibility genes largely remains to be elucidated. Checkpoint Kinase 2 (CHEK2) is an important signal transducer of cellular responses to DNA damage, whose defects have been associated with an increase in breast cancer risk. Previous studies have identified low penetrance CHEK2 alleles such as 1100delC and I157T, as well as variants such as S428F in the Ashkenazi Jewish population and IVS2 + 1G>A in the Polish population. No founder allele has been specifically identified in the French Canadian population.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-10617473,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-10673500,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-10724175,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-11461078,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-11701644,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-11857075,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-11967536,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-11984555,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-12094328,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-12402044,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-12533788,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-12610780,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-15087378,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-15122511,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-15322517,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-15492928,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-15649950,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-15761078,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-15803363,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-15810020,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-16143014,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-16452051,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-16539696,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-16551709,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-16816021,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-16897426,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-16905680,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-17292821,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-17539907,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-17705858,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-17918154,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-18053174,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-18172190,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-18381420,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-18575892,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-9497246,
http://linkedlifedata.com/resource/pubmed/commentcorrection/18706089-9792861
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1471-2407
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pubmed:author |
pubmed-author:CardinalGuyG,
pubmed-author:ChenLong QiLQ,
pubmed-author:FoulkesWilliam DWD,
pubmed-author:GhadirianParvizP,
pubmed-author:HamelNancyN,
pubmed-author:NarodSteven ASA,
pubmed-author:NovakDavid JDJ,
pubmed-author:RobidouxAndréA,
pubmed-author:RossinyVanessaV,
pubmed-author:RousseauFrancoisF,
pubmed-author:ToninPatricia NPN,
pubmed-author:ZhangPhilP
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pubmed:issnType |
Electronic
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pubmed:volume |
8
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
239
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pubmed:dateRevised |
2011-11-2
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pubmed:meshHeading |
pubmed-meshheading:18706089-Adult,
pubmed-meshheading:18706089-Aged,
pubmed-meshheading:18706089-Breast Neoplasms,
pubmed-meshheading:18706089-Canada,
pubmed-meshheading:18706089-Female,
pubmed-meshheading:18706089-Founder Effect,
pubmed-meshheading:18706089-Gene Expression Regulation, Neoplastic,
pubmed-meshheading:18706089-Genes, BRCA1,
pubmed-meshheading:18706089-Genes, BRCA2,
pubmed-meshheading:18706089-Genetic Predisposition to Disease,
pubmed-meshheading:18706089-Genetic Variation,
pubmed-meshheading:18706089-Humans,
pubmed-meshheading:18706089-Middle Aged,
pubmed-meshheading:18706089-Mutation, Missense,
pubmed-meshheading:18706089-Protein-Serine-Threonine Kinases
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pubmed:year |
2008
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pubmed:articleTitle |
Identification of a novel CHEK2 variant and assessment of its contribution to the risk of breast cancer in French Canadian women.
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pubmed:affiliation |
Program in Cancer Genetics, Department of Oncology, McGill University, Montreal, QC, H2W 1S6, Canada. david.novak@mail.mcgill.ca
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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