Expanding the spectrum of germline variants in cancer

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...

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Veröffentlicht in:	Human genetics 2017-11, Vol.136 (11-12), p.1431-1444
Hauptverfasser:	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.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine BRCA2 protein Breast Cancer Colorectal cancer Colorectal carcinoma Development and progression DNA repair Family medical history Gene Function Gene mutation Genes Genetic aspects Genomic instability Human Genetics Metabolic Diseases Molecular Medicine Mutation Original Investigation Peripheral blood Thyroid cancer Thyroid gland Tumorigenesis
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