%0 Journal Article
%A Srivastava, Aayushi
%A Giangiobbe, Sara
%A Skopelitou, Diamanto
%A Miao, Beiping
%A Paramasivam, Nagarajan
%A Diquigiovanni, Chiara
%A Bonora, Elena
%A Hemminki, Kari
%A Försti, Asta
%A Bandapalli, Obul Reddy
%T Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer.
%J Frontiers in endocrinology
%V 12
%@ 1664-2392
%C Lausanne
%I Frontiers Research Foundation
%M DKFZ-2021-00603
%P 600682
%D 2021
%Z #EA:B062#LA:B062#
%X Familial inheritance in non-medullary thyroid cancer (NMTC) is an area that has yet to be adequately explored. Despite evidence suggesting strong familial clustering of non-syndromic NMTC, known variants still account for a very small percentage of the genetic burden. In a recent whole genome sequencing (WGS) study of five families with several NMTCs, we shortlisted promising variants with the help of our in-house developed Familial Cancer Variant Prioritization Pipeline (FCVPPv2). Here, we report potentially disease-causing variants in checkpoint kinase 2 (CHEK2), Ewing sarcoma breakpoint region 1 (EWSR1) and T-lymphoma invasion and metastasis-inducing protein 1 (TIAM1) in one family. Performing WGS on three cases, one probable case and one healthy individual in a family with familial NMTC left us with 112254 variants with a minor allele frequency of less than 0.1
%K CHEK2 (Other)
%K EWSR1 (Other)
%K TIAM1 (Other)
%K familial non-medullary thyroid cancer (Other)
%K germline variant (Other)
%K non-syndromic (Other)
%K whole-genome sequencing (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:33692755
%2 pmc:PMC7937922
%R 10.3389/fendo.2021.600682
%U https://inrepo02.dkfz.de/record/167869