Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predispo...
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects
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Author / Creator
Li, Na , Zethoven, Magnus , McInerny, Simone , Devereux, Lisa , Huang, Yu-Kuan , Thio, Niko , Cheasley, Dane , Gutiérrez-Enríquez, Sara , Moles-Fernández, Alejandro , Diez, Orland , Nguyen-Dumont, Tu , Southey, Melissa C. , Hopper, John L. , Simard, Jacques , Dumont, Martine , Soucy, Penny , Meindl, Alfons , Schmutzler, Rita , Schmidt, Marjanka K. , Adank, Muriel A. , Andrulis, Irene L. , Hahnen, Eric , Engel, Christoph , Lesueur, Fabienne , Girard, Elodie , Neuhausen, Susan L. , Ziv, Elad , Allen, Jamie , Easton, Douglas F. , Scott, Rodney J. , Gorringe, Kylie L. , James, Paul A. and Campbell, Ian G.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Bi-allelic
loss-of-function
(LoF) variants in the base excision repair (BER) gene
NTHL1
cause a high-risk hereditary multi-tumor syndrome that includes breast cancer, but the contribution of heterozygous variants to hereditary breast cancer is unknown. An analysis of 4985 women with breast cancer, enriched for familial features, and 478...
Alternative Titles
Full title
Evaluation of the association of heterozygous germline variants in NTHL1 with breast cancer predisposition: an international multi-center study of 47,180 subjects
Authors, Artists and Contributors
Author / Creator
Zethoven, Magnus
McInerny, Simone
Devereux, Lisa
Huang, Yu-Kuan
Thio, Niko
Cheasley, Dane
Gutiérrez-Enríquez, Sara
Moles-Fernández, Alejandro
Diez, Orland
Nguyen-Dumont, Tu
Southey, Melissa C.
Hopper, John L.
Simard, Jacques
Dumont, Martine
Soucy, Penny
Meindl, Alfons
Schmutzler, Rita
Schmidt, Marjanka K.
Adank, Muriel A.
Andrulis, Irene L.
Hahnen, Eric
Engel, Christoph
Lesueur, Fabienne
Girard, Elodie
Neuhausen, Susan L.
Ziv, Elad
Allen, Jamie
Easton, Douglas F.
Scott, Rodney J.
Gorringe, Kylie L.
James, Paul A.
Campbell, Ian G.
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_97871f690ed34ff7804d2d19d439847c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_97871f690ed34ff7804d2d19d439847c
Other Identifiers
ISSN
2374-4677
E-ISSN
2374-4677
DOI
10.1038/s41523-021-00255-3
