Article
Expanding the spectrum of germline variants in cancer.
Human genetics - 1 Nov 2017
Siraj Abdul K, Masoodi Tariq, Bu Rong, Parvathareddy Sandeep Kumar, Al-Badawi Ismail A, Al-Sanea Nasser, Ashari Luai H, Abduljabbar Alaa, Alhomoud Samar, Al-Sobhi Saif S, Tulbah Asma, Ajarim Dahish, Alzoman Khalid, Aljuboury Muna, Yousef Hussam Bin, Al-Dawish Mohammed, Al-Dayel Fouad, Alkuraya Fowzan S, Al-Kuraya Khawla S
Abstract excerpt
Our ability to identify germline variants in hereditary cancer cases remains challenged by the incomplete cataloging of relevant genes and lack of consensus on who should be tested. We designed a panel [hereditary oncogenesis predisposition evaluation (HOPE)] that encompasses most of the genes known to be associated with cancer development and tested its yield on more than 1300 samples of cancer patients....
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