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Article: Germline mutation in 1,338 BRCA-negative Chinese hereditary breast and/or ovarian cancer patients: clinical testing with a multigene test panel

TitleGermline mutation in 1,338 BRCA-negative Chinese hereditary breast and/or ovarian cancer patients: clinical testing with a multigene test panel
Authors
Issue Date2020
PublisherAmerican Society for Investigative Pathology. The Journal's web site is located at http://jmd.amjpathol.org
Citation
The Journal of Molecular Diagnostics, 2020, Epub 2020-02-14 How to Cite?
AbstractDifferences in the mutation spectrum across ethnicities suggest the importance of identifying genes in addition to common high penetrant genes to estimate the associated breast cancer risk in Chinese. A total of 1338 high-risk breast cancer patients who tested negative for germline BRCA1, BRCA2, TP53, and PTEN mutations between 2007 and 2017 were selected from the Hong Kong Hereditary Breast Cancer Family Registry. Patient samples were subjected to next-generation DNA sequencing using a multigene panel (Color Genomics). All detected pathogenic variants were validated by bidirectional DNA sequencing. The sequencing data were coanalyzed by a bioinformatics pipeline developed in-house. Sixty-one pathogenic variants (4.6%) were identified in this cohort in 11 cancer predisposition genes. Most carriers (77.1%) had early onset of breast cancer (age <45 years), 32.8% had family members with breast cancer, and 11.5% had triple-negative breast cancer. The most common mutated genes were PALB2 (1.4%), RAD51D (0.8%), and ATM (0.8%). A total of 612 variants of unknown significance were identified in 494 patients, and 87.4% of the variants of unknown significance were missense mutations. Pathogenic variants in cancer predisposition genes beyond BRCA1, BRCA2, TP53, and PTEN were detected in an additional 4.6% of patients using the multigene panel. PALB2 (1.4%) and RAD51D (0.8%) were the most commonly mutated genes in patients who tested mutation negative by a four-gene panel.
Persistent Identifierhttp://hdl.handle.net/10722/281176
ISSN
2019 Impact Factor: 5.553
2015 SCImago Journal Rankings: 2.514

 

DC FieldValueLanguage
dc.contributor.authorKwong, A-
dc.contributor.authorShin, VY-
dc.contributor.authorChen, J-
dc.contributor.authorCheuk, IW-Y-
dc.contributor.authorHo, CYS-
dc.contributor.authorAu, CH-
dc.contributor.authorChan, KKL-
dc.contributor.authorNgan, HYS-
dc.contributor.authorChan, TL-
dc.contributor.authorFord, JM-
dc.contributor.authorMa, ESK-
dc.date.accessioned2020-03-09T09:51:12Z-
dc.date.available2020-03-09T09:51:12Z-
dc.date.issued2020-
dc.identifier.citationThe Journal of Molecular Diagnostics, 2020, Epub 2020-02-14-
dc.identifier.issn1525-1578-
dc.identifier.urihttp://hdl.handle.net/10722/281176-
dc.description.abstractDifferences in the mutation spectrum across ethnicities suggest the importance of identifying genes in addition to common high penetrant genes to estimate the associated breast cancer risk in Chinese. A total of 1338 high-risk breast cancer patients who tested negative for germline BRCA1, BRCA2, TP53, and PTEN mutations between 2007 and 2017 were selected from the Hong Kong Hereditary Breast Cancer Family Registry. Patient samples were subjected to next-generation DNA sequencing using a multigene panel (Color Genomics). All detected pathogenic variants were validated by bidirectional DNA sequencing. The sequencing data were coanalyzed by a bioinformatics pipeline developed in-house. Sixty-one pathogenic variants (4.6%) were identified in this cohort in 11 cancer predisposition genes. Most carriers (77.1%) had early onset of breast cancer (age <45 years), 32.8% had family members with breast cancer, and 11.5% had triple-negative breast cancer. The most common mutated genes were PALB2 (1.4%), RAD51D (0.8%), and ATM (0.8%). A total of 612 variants of unknown significance were identified in 494 patients, and 87.4% of the variants of unknown significance were missense mutations. Pathogenic variants in cancer predisposition genes beyond BRCA1, BRCA2, TP53, and PTEN were detected in an additional 4.6% of patients using the multigene panel. PALB2 (1.4%) and RAD51D (0.8%) were the most commonly mutated genes in patients who tested mutation negative by a four-gene panel.-
dc.languageeng-
dc.publisherAmerican Society for Investigative Pathology. The Journal's web site is located at http://jmd.amjpathol.org-
dc.relation.ispartofThe Journal of Molecular Diagnostics-
dc.titleGermline mutation in 1,338 BRCA-negative Chinese hereditary breast and/or ovarian cancer patients: clinical testing with a multigene test panel-
dc.typeArticle-
dc.identifier.emailKwong, A: avakwong@hku.hk-
dc.identifier.emailShin, VY: vyshin@hku.hk-
dc.identifier.emailChen, J: gary0526@hku.hk-
dc.identifier.emailCheuk, IW-Y: isacheuk@hku.hk-
dc.identifier.emailChan, KKL: kklchan@hkucc.hku.hk-
dc.identifier.emailNgan, HYS: hysngan@hkucc.hku.hk-
dc.identifier.authorityKwong, A=rp01734-
dc.identifier.authorityShin, VY=rp02000-
dc.identifier.authorityChan, KKL=rp00499-
dc.identifier.authorityNgan, HYS=rp00346-
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.jmoldx.2020.01.013-
dc.identifier.scopuseid_2-s2.0-85083157748-
dc.identifier.hkuros309355-
dc.identifier.volumeEpub 2020-02-14-
dc.publisher.placeUnited States-

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