Please use this identifier to cite or link to this item: https://doi.org/10.18632/oncotarget.25769
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dc.titleClinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers
dc.contributor.authorChan, G.H.J
dc.contributor.authorOng, P.Y
dc.contributor.authorLow, J.J.H
dc.contributor.authorKong, H.L
dc.contributor.authorOw, S.G.W
dc.contributor.authorTan, D.S.P
dc.contributor.authorLim, Y.W
dc.contributor.authorLim, S.E
dc.contributor.authorLee, S.-C
dc.date.accessioned2020-10-20T05:01:49Z
dc.date.available2020-10-20T05:01:49Z
dc.date.issued2018
dc.identifier.citationChan, G.H.J, Ong, P.Y, Low, J.J.H, Kong, H.L, Ow, S.G.W, Tan, D.S.P, Lim, Y.W, Lim, S.E, Lee, S.-C (2018). Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers. Oncotarget 9 (55) : 30649-30660. ScholarBank@NUS Repository. https://doi.org/10.18632/oncotarget.25769
dc.identifier.issn19492553
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/178078
dc.description.abstractBackground: Developing multiple cancers is an indicator of underlying hereditary cancer predisposition, but there is a paucity of data regarding the clinical genetic testing outcomes of these patients. Methods: We compared cancer index patients with ?2 primary malignancies versus 1 primary cancer who underwent clinical evaluation and testing with multigene panels comprising up to 49 genes from 1998-2016. Results: Among 1191 cancer index patients, 80.6%, 17.2%, and 2.2% respectively had 1, 2, and ?3 primary malignancies. For patients with 2 primary cancers (n=205), the most common cancer pairs were bilateral breast (37.5%), breast-ovary (11.7%), endometrium-ovary (9.2%), colon-endometrium (3.9%) and colon-colon (3.4%). 42.3% patients underwent gene testing including 110/231 (47.6%) with multiple malignancies. Pathogenic variants were found more frequently in younger patients, in those with a family history of cancer related to the suspected syndrome, and a trend towards significance in those with multiple primary cancers (35.5% vs. 25.6%, p = 0.09). In patients with multiple cancers, pathogenic variants were most commonly identified in BRCA1 (38.5%), BRCA2 (17.9%), and the mismatch repair genes (20.5%), while 23.1% of pathogenic mutations were in other moderateto high-penetrance cancer predisposition genes including APC, ATM, MUTYH, PALB2, RAD50 and TP53. Conclusion: Patients with multiple cancers were more likely to carry pathogenic mutations than those with single cancer. About three-quarters of deleterious mutations in patients with multiple primary cancers were in BRCA1/2 and the mismatch repair genes, but multi-gene panel testing facilitated the detection of mutations in another 6 genes and is warranted in this high-risk population. © Chan et al.
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceUnpaywall 20201031
dc.subjectAPC protein
dc.subjectATM protein
dc.subjectDNA glycosylase MutY
dc.subjectpartner and localizer of BRCA2
dc.subjectRad50 protein
dc.subjectadolescent
dc.subjectadult
dc.subjectaged
dc.subjectAPC gene
dc.subjectArticle
dc.subjectAsian
dc.subjectATM gene
dc.subjectchild
dc.subjectcontrolled study
dc.subjectfamily history
dc.subjectfemale
dc.subjectgene mutation
dc.subjectgenetic association
dc.subjectgenetic predisposition
dc.subjectgenetic procedures
dc.subjectgenetic screening
dc.subjectgenetic variability
dc.subjecthereditary breast and ovarian cancer syndrome
dc.subjecthereditary nonpolyposis colorectal cancer
dc.subjecthuman
dc.subjectLi-Fraumeni syndrome
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectmismatch repair
dc.subjectmulti gene panel
dc.subjectMUTYH gene
dc.subjectPALB2 gene
dc.subjectRAD50 gene
dc.subjecttumor suppressor gene
dc.typeArticle
dc.contributor.departmentOBSTETRICS & GYNAECOLOGY
dc.contributor.departmentMEDICINE
dc.description.doi10.18632/oncotarget.25769
dc.description.sourcetitleOncotarget
dc.description.volume9
dc.description.issue55
dc.description.page30649-30660
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