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- W2728954181 abstract "e13032Background: Recent advances in NGS increase the accessibility and affordability of germline genomic diagnostic testing in cancer care. Singapore, a multi-ethnic society, is a destination for patients with medical needs across Asia. Despite the availability of NGS testing, questions remain about the interpretation of results in patients from the developing world. Methods: A total of 91 patients were seen at a Singapore based centre. All patients provided a 3-generation pedigree and received pre/post test counselling. After informed consent, patients provided samples for NGS multiplexed panels. Samples were analyzed in a US-based CAP & CLIA certified laboratory for assessment of germline variants. Results: All 91 patients (22 male/69 female; median age 45) were successfully sequenced. Pathogenic variants (PV) were identified in 11.0% (10/91) of patients and variants of uncertain significance (VUS) were reported in 39.6% (36/91). PV’s seen include BRCA1 (3), BRCA2 (2) and 1 each for BRIP1, MUTYH, MLH1,..." @default.
- W2728954181 created "2017-07-14" @default.
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- W2728954181 date "2016-05-20" @default.
- W2728954181 modified "2023-09-27" @default.
- W2728954181 title "Distribution of genetic variants detected via next-generation sequencing in an international private practice." @default.
- W2728954181 doi "https://doi.org/10.1200/jco.2016.34.15_suppl.e13032" @default.
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