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- 저자 : Mashl, R. Jay (검색결과 1 건)
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Pathogenic Germline Variants in 10,389 Adult Cancers
Huang, Kuan-lin,Mashl, R. Jay,Wu, Yige,Ritter, Deborah I.,Wang, Jiayin,Oh, Clara,Paczkowska, Marta,Reynolds, Sheila,Wyczalkowski, Matthew A.,Oak, Ninad,Scott, Adam D.,Krassowski, Michal,Cherniack, And Elsevier 2018 Cell Vol.173 No.2
<P><B>Summary</B></P> <P>We conducted the largest investigation of predisposition variants in cancer to date, discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 cancer types. Twenty-one genes showed single or cross-cancer associations, including novel associations of <I>SDHA</I> in melanoma and <I>PALB2</I> in stomach adenocarcinoma. The 659 predisposition variants and 18 additional large deletions in tumor suppressors, including <I>ATM</I>, <I>BRCA1</I>, and <I>NF1</I>, showed low gene expression and frequent (43%) loss of heterozygosity or biallelic two-hit events. We also discovered 33 such variants in oncogenes, including missenses in <I>MET</I>, <I>RET</I>, and <I>PTPN11</I> associated with high gene expression. We nominated 47 additional predisposition variants from prioritized VUSs supported by multiple evidences involving case-control frequency, loss of heterozygosity, expression effect, and co-localization with mutations and modified residues. Our integrative approach links rare predisposition variants to functional consequences, informing future guidelines of variant classification and germline genetic testing in cancer.</P> <P><B>Highlights</B></P> <P> <UL> <LI> 871 predisposition variants/CNVs discovered in 8% of 10,389 cases of 33 cancers </LI> <LI> Pan-cancer approach identified shared variants and genes across cancers </LI> <LI> 33 variants affecting activating domains of oncogenes showed high expression </LI> <LI> 47 VUSs prioritized using cancer enrichment, LOH, expression and other evidence </LI> </UL> </P> <P><B>Graphical Abstract</B></P> <P>[DISPLAY OMISSION]</P>
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