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000300275 1001_ $$0P:(DE-He78)43b43c5f20ed70299251a446ad8ec973$$aSrivastava, Aayushi$$b0$$eFirst author
000300275 245__ $$aPrioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing.
000300275 260__ $$aOxford$$bOxford University Press$$c2025
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000300275 520__ $$aThyroid cancer (TC) is the most common endocrine malignancy, with 90%-95% of the cases representing non-medullary thyroid cancer (NMTC). Familial cases account only for a few of all cases and the underlying genetic causes are still poorly understood.We whole-genome sequenced affected and unaffected members of an Italian NMTC family and applied our in-house developed Familial Cancer Variant Prioritization Pipeline (FCVPPv2) which prioritized 12 coding variants. We refined this selection using the VarSome American College of Medical Genetics and Genomics (ACMG) implementation, SNAP2 predictions and further in silico scores.We prioritized 4 possibly pathogenic variants in 4 genes including Ret proto-oncogene (RET), polypeptide N-acetylgalactosaminyltransferase 10 (GALNT10), ubinuclein-1 (UBN1), and prostaglandin I2 receptor (PTGIR). The role of RET point mutations in medullary thyroid carcinoma is well established. Similarly, somatic rearrangements of RET are known in papillary TC, a specific histotype of NMTC. In contrast to RET, no germline variants in PTGIR, GALNT10, or UBN1 have been linked to the development of TC to date. However, alterations in these genes have been shown to affect pathways related to cell proliferation, apoptosis, growth, and differentiation, as well as posttranslational modification and gene regulation. A thorough review of the available literature together with computational evidence supported the interpretation of the 4 shortlisted variants as possibly disease-causing in this family.Our results implicate the first germline variant in RET in a family with NMTC as well as the first germline variants in PTGIR, GALNT10, and UBN1 in TC.
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000300275 650_7 $$2Other$$aGALNT10
000300275 650_7 $$2Other$$aPTGIR
000300275 650_7 $$2Other$$aRET
000300275 650_7 $$2Other$$aUBN1
000300275 650_7 $$2Other$$afamilial non–medullary thyroid cancer
000300275 650_7 $$2Other$$agermline variant
000300275 650_7 $$2Other$$awhole-genome sequencing
000300275 650_7 $$2NLM Chemicals$$aProto-Oncogene Mas
000300275 650_7 $$0EC 2.4.1.-$$2NLM Chemicals$$aN-Acetylgalactosaminyltransferases
000300275 650_7 $$2NLM Chemicals$$aMAS1 protein, human
000300275 650_7 $$0EC 2.7.10.1$$2NLM Chemicals$$aProto-Oncogene Proteins c-ret
000300275 650_7 $$0EC 2.7.10.1$$2NLM Chemicals$$aRET protein, human
000300275 650_7 $$0EC 2.4.1.41$$2NLM Chemicals$$aPolypeptide N-acetylgalactosaminyltransferase
000300275 650_2 $$2MeSH$$aHumans
000300275 650_2 $$2MeSH$$aThyroid Neoplasms: genetics
000300275 650_2 $$2MeSH$$aGenetic Predisposition to Disease: genetics
000300275 650_2 $$2MeSH$$aProto-Oncogene Mas
000300275 650_2 $$2MeSH$$aMale
000300275 650_2 $$2MeSH$$aFemale
000300275 650_2 $$2MeSH$$aN-Acetylgalactosaminyltransferases: genetics
000300275 650_2 $$2MeSH$$aProto-Oncogene Proteins c-ret: genetics
000300275 650_2 $$2MeSH$$aPedigree
000300275 650_2 $$2MeSH$$aWhole Genome Sequencing: methods
000300275 650_2 $$2MeSH$$aMiddle Aged
000300275 650_2 $$2MeSH$$aAdult
000300275 650_2 $$2MeSH$$aPolypeptide N-acetylgalactosaminyltransferase
000300275 650_2 $$2MeSH$$aCarcinoma, Neuroendocrine: genetics
000300275 7001_ $$0P:(DE-He78)cea283034a4f6c64994f85d4444e7494$$aSkopelitou, Diamanto$$b1
000300275 7001_ $$0P:(DE-He78)b5b786a7a28d851956ba90aa9451887a$$aMiao, Beiping$$b2$$udkfz
000300275 7001_ $$0P:(DE-HGF)0$$aGiagiobbe, Sara$$b3
000300275 7001_ $$aParamasivam, Nagarajan$$b4
000300275 7001_ $$0P:(DE-He78)da09d83faa85c143d15611698f7b1eac$$aKumar, Abhishek$$b5$$udkfz
000300275 7001_ $$aDiquigiovanni, Chiara$$b6
000300275 7001_ $$aBonora, Elena$$b7
000300275 7001_ $$0P:(DE-He78)b11ccde1801d45d32a6a60f7b396d7dc$$aBandapalli, Obul Reddy$$b8
000300275 7001_ $$0P:(DE-He78)f26164c08f2f14abcf31e52e13ee3696$$aFörsti, Asta$$b9$$eLast author$$udkfz
000300275 7001_ $$0P:(DE-He78)19b0ec1cea271419d9fa8680e6ed6865$$aHemminki, Kari$$b10$$eLast author$$udkfz
000300275 773__ $$0PERI:(DE-600)1485160-X$$a10.1093/ejendo/lvaf045$$gVol. 192, no. 4, p. 398 - 407$$n4$$p398 - 407$$tEuropean journal of endocrinology$$v192$$x0001-5598$$y2025
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