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Title: Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers
Authors: Chan, 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
Keywords: APC protein
ATM protein
DNA glycosylase MutY
partner and localizer of BRCA2
Rad50 protein
APC gene
ATM gene
controlled study
family history
gene mutation
genetic association
genetic predisposition
genetic procedures
genetic screening
genetic variability
hereditary breast and ovarian cancer syndrome
hereditary nonpolyposis colorectal cancer
Li-Fraumeni syndrome
major clinical study
mismatch repair
multi gene panel
MUTYH gene
PALB2 gene
RAD50 gene
tumor suppressor gene
Issue Date: 2018
Citation: Chan, 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.
Rights: Attribution 4.0 International
Abstract: Background: 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.
Source Title: Oncotarget
ISSN: 19492553
DOI: 10.18632/oncotarget.25769
Rights: Attribution 4.0 International
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