TY  - JOUR
AU  - Srivastava, Aayushi
AU  - Giangiobbe, Sara
AU  - Skopelitou, Diamanto
AU  - Miao, Beiping
AU  - Paramasivam, Nagarajan
AU  - Diquigiovanni, Chiara
AU  - Bonora, Elena
AU  - Hemminki, Kari
AU  - Försti, Asta
AU  - Bandapalli, Obul Reddy
TI  - Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer.
JO  - Frontiers in endocrinology
VL  - 12
SN  - 1664-2392
CY  - Lausanne
PB  - Frontiers Research Foundation
M1  - DKFZ-2021-00603
SP  - 600682
PY  - 2021
N1  - #EA:B062#LA:B062#
AB  - 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
KW  - CHEK2 (Other)
KW  - EWSR1 (Other)
KW  - TIAM1 (Other)
KW  - familial non-medullary thyroid cancer (Other)
KW  - germline variant (Other)
KW  - non-syndromic (Other)
KW  - whole-genome sequencing (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:33692755
C2  - pmc:PMC7937922
DO  - DOI:10.3389/fendo.2021.600682
UR  - https://inrepo02.dkfz.de/record/167869
ER  -