Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.

doi:10.1186/s12920-017-0271-4

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Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.

BMC medical genomics - 19 May 2017

Cheng Donavan T, Prasad Meera, Chekaluk Yvonne, Benayed Ryma, Sadowska Justyna, Zehir Ahmet, Syed Aijazuddin, Wang Yan Elsa, Somar Joshua, Li Yirong, Yelskaya Zarina, Wong Donna, Robson Mark E, Offit Kenneth, Berger Michael F, Nafa Khedoudja, Ladanyi Marc, Zhang Liying

Abstract excerpt

BACKGROUND: The growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer is the result of an underlying disease-causing mutation in a cancer predisposition gene is not only diagnostic for a cancer predisposition syndrome, but also has significant clinical implications in the clinical management of patients and their...

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Identifiers

PMID: 28526081
DOI: 10.1186/s12920-017-0271-4
PMCID: PMC5437632

Genes

IMPACT
APC
ATM
BRCA1
BRCA2
CHEK2
TSC2
VHL

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