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@ARTICLE{Srivastava:300275,
      author       = {A. Srivastava$^*$ and D. Skopelitou$^*$ and B. Miao$^*$ and
                      S. Giagiobbe$^*$ and N. Paramasivam and A. Kumar$^*$ and C.
                      Diquigiovanni and E. Bonora and O. R. Bandapalli$^*$ and A.
                      Försti$^*$ and K. Hemminki$^*$},
      title        = {{P}rioritization of predisposition genes for familial
                      non-medullary thyroid cancer by whole-genome sequencing.},
      journal      = {European journal of endocrinology},
      volume       = {192},
      number       = {4},
      issn         = {0001-5598},
      address      = {Oxford},
      publisher    = {Oxford University Press},
      reportid     = {DKFZ-2025-00728},
      pages        = {398 - 407},
      year         = {2025},
      note         = {#EA:C050#LA:C050#LA:B062# ; geteilte Letztautorenschaft},
      abstract     = {Thyroid 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.},
      keywords     = {Humans / Thyroid Neoplasms: genetics / Genetic
                      Predisposition to Disease: genetics / Proto-Oncogene Mas /
                      Male / Female / N-Acetylgalactosaminyltransferases: genetics
                      / Proto-Oncogene Proteins c-ret: genetics / Pedigree / Whole
                      Genome Sequencing: methods / Middle Aged / Adult /
                      Polypeptide N-acetylgalactosaminyltransferase / Carcinoma,
                      Neuroendocrine: genetics / GALNT10 (Other) / PTGIR (Other) /
                      RET (Other) / UBN1 (Other) / familial non–medullary
                      thyroid cancer (Other) / germline variant (Other) /
                      whole-genome sequencing (Other) / Proto-Oncogene Mas (NLM
                      Chemicals) / N-Acetylgalactosaminyltransferases (NLM
                      Chemicals) / MAS1 protein, human (NLM Chemicals) /
                      Proto-Oncogene Proteins c-ret (NLM Chemicals) / RET protein,
                      human (NLM Chemicals) / Polypeptide
                      N-acetylgalactosaminyltransferase (NLM Chemicals)},
      cin          = {C050 / B062 / Z999 / A360 / HD01},
      ddc          = {610},
      cid          = {I:(DE-He78)C050-20160331 / I:(DE-He78)B062-20160331 /
                      I:(DE-He78)Z999-20160331 / I:(DE-He78)A360-20160331 /
                      I:(DE-He78)HD01-20160331},
      pnm          = {312 - Funktionelle und strukturelle Genomforschung
                      (POF4-312)},
      pid          = {G:(DE-HGF)POF4-312},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40177881},
      doi          = {10.1093/ejendo/lvaf045},
      url          = {https://inrepo02.dkfz.de/record/300275},
}