title: HABP2 G534E variation in familial non-medullary thyroid cancer: an Italian series.
abstract: BACKGROUND
  Thyroid cancer may have a familial predisposition and may occur in the context of hereditary syndromes or as isolated tumor. Recently, the G534E variant in the HABP2 gene has been suggested as causative mutation for familial thyroid cancer, but other studies gave contradictory results.
  
  
  METHODS
  We have analyzed the G534E variant in an Italian series of 63 familial thyroid cancer patients and 41 unaffected family members with end-point PCR, DHPLC and direct sequencing.
  
  
  RESULTS
  All samples analyzed displayed a pattern typical of the homozygous wild type revealing the absence of the G534E variant.
  
  
  CONCLUSIONS
  In this study, HABP2 G534E variant is not correlated with the familial form of PTC.
authors.affiliation: Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy. cantara@unisi.it.
authors.forename: S
authors.initials: S
authors.lastname: Cantara
authors.affiliation: Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Marzocchi
authors.affiliation: Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
authors.forename: M G
authors.initials: MG
authors.lastname: Castagna
authors.affiliation: Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Pacini
mesh_terms: D018263:Adenocarcinoma, Follicular / Q000235:genetics* / Q000473:pathology; D000231:Adenocarcinoma, Papillary / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D000368:Aged; D014408:Biomarkers, Tumor / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D012697:Serine Endopeptidases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics* / Q000473:pathology; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; C433550:HABP2 protein, human; D012697:Serine Endopeptidases
keywords: Familial non-medullary thyroid cancer; G534E; HABP2; Italian population; Thyroid cancer