title: Genetic screening of patients with medullary thyroid cancer in a referral center in Greece during the past two decades.
abstract: OBJECTIVE
  Mutations in the RET gene are responsible for hereditary medullary thyroid cancer (MTC) and may vary between ethnic groups. We report the spectrum of mutations detected in patients with MTC in a referral center in Greece.
  
  
  METHODS
  Screening for RET mutations was performed in 313 subjects from 188 unrelated families: 51 patients had clinical suspicion for familial disease, 133 were apparently sporadic, four patients had only C cell hyperplasia, and 125 were family members. Exons 8, 10, 11, and 13-16 were screened.
  
  
  RESULTS
  A total of 58 individuals (30.85%) were RET mutations carriers, 120 (63.8%) were finally classified as sporadic, 13 apparently sporadic cases (9.8%) were identified with RET mutation: ten carried the exon 8 at codon 533 mutation (previously reported), two the exon 14 at codon 804 mutation, and one the exon 13 at codon 768 mutation. Six patients (3.19%) with clinical features of multiple endocrine neoplasia type 2A and negative for RET mutations were classified as 'unknown cause'. The mutations of hereditary cases were as follows: 21 cases (36.2%) in exon 8 codon 533, 19 (32.8%) in exon 11 codon 634, nine (15.5%) in exon 10, five (8.6%) in exon 16, three (5.2%) in exon 14 codon 804, and one in exon 13 codon 768 (1.7%).
  
  
  CONCLUSIONS
  The spectrum of RET mutations in Greece differs from that in other populations and the prevalence of familial cases is higher. The exon 8 (Gly533Cys) mutation was the most prevalent in familial cases unlike other series, followed by exon 11 (codon 634) mutations which are the most frequent elsewhere. The wide application of genetic screening in MTC reveals new molecular defects and helps to characterize the spectrum of mutations in each ethnic group.
authors.affiliation: Endocrine UnitDepartment of Clinical Therapeutics, School of Medicine, Alexandra General Hospital, Athens University, Athens, GreeceImmunology DepartmentAlexandra General Hospital, Athens, GreeceHematology-Lymphomas Department and BMT UnitEvaggelismos General Hospital, Athens, GreeceDepartment of Endocrinology-Endocrine OncologyTheageneio Cancer Hospital, Thessaloniki, Greece1st Endocrine Section and Diabetes CenterAlexandra General Hospital, Athens, Greece ledasarika@gmail.com.
authors.forename: H-L
authors.initials: HL
authors.lastname: Sarika
authors.affiliation: Endocrine UnitDepartment of Clinical Therapeutics, School of Medicine, Alexandra General Hospital, Athens University, Athens, GreeceImmunology DepartmentAlexandra General Hospital, Athens, GreeceHematology-Lymphomas Department and BMT UnitEvaggelismos General Hospital, Athens, GreeceDepartment of Endocrinology-Endocrine OncologyTheageneio Cancer Hospital, Thessaloniki, Greece1st Endocrine Section and Diabetes CenterAlexandra General Hospital, Athens, Greece.
authors.forename: A
authors.initials: A
authors.lastname: Papathoma
authors.affiliation: Endocrine UnitDepartment of Clinical Therapeutics, School of Medicine, Alexandra General Hospital, Athens University, Athens, GreeceImmunology DepartmentAlexandra General Hospital, Athens, GreeceHematology-Lymphomas Department and BMT UnitEvaggelismos General Hospital, Athens, GreeceDepartment of Endocrinology-Endocrine OncologyTheageneio Cancer Hospital, Thessaloniki, Greece1st Endocrine Section and Diabetes CenterAlexandra General Hospital, Athens, Greece.
authors.forename: M
authors.initials: M
authors.lastname: Garofalaki
authors.affiliation: Endocrine UnitDepartment of Clinical Therapeutics, School of Medicine, Alexandra General Hospital, Athens University, Athens, GreeceImmunology DepartmentAlexandra General Hospital, Athens, GreeceHematology-Lymphomas Department and BMT UnitEvaggelismos General Hospital, Athens, GreeceDepartment of Endocrinology-Endocrine OncologyTheageneio Cancer Hospital, Thessaloniki, Greece1st Endocrine Section and Diabetes CenterAlexandra General Hospital, Athens, Greece.
authors.forename: K
authors.initials: K
authors.lastname: Saltiki
authors.affiliation: Endocrine UnitDepartment of Clinical Therapeutics, School of Medicine, Alexandra General Hospital, Athens University, Athens, GreeceImmunology DepartmentAlexandra General Hospital, Athens, GreeceHematology-Lymphomas Department and BMT UnitEvaggelismos General Hospital, Athens, GreeceDepartment of Endocrinology-Endocrine OncologyTheageneio Cancer Hospital, Thessaloniki, Greece1st Endocrine Section and Diabetes CenterAlexandra General Hospital, Athens, Greece.
authors.forename: T
authors.initials: T
authors.lastname: Pappa
authors.affiliation: Endocrine UnitDepartment of Clinical Therapeutics, School of Medicine, Alexandra General Hospital, Athens University, Athens, GreeceImmunology DepartmentAlexandra General Hospital, Athens, GreeceHematology-Lymphomas Department and BMT UnitEvaggelismos General Hospital, Athens, GreeceDepartment of Endocrinology-Endocrine OncologyTheageneio Cancer Hospital, Thessaloniki, Greece1st Endocrine Section and Diabetes CenterAlexandra General Hospital, Athens, Greece.
authors.forename: K
authors.initials: K
authors.lastname: Pazaitou-Panayiotou
authors.affiliation: Endocrine UnitDepartment of Clinical Therapeutics, School of Medicine, Alexandra General Hospital, Athens University, Athens, GreeceImmunology DepartmentAlexandra General Hospital, Athens, GreeceHematology-Lymphomas Department and BMT UnitEvaggelismos General Hospital, Athens, GreeceDepartment of Endocrinology-Endocrine OncologyTheageneio Cancer Hospital, Thessaloniki, Greece1st Endocrine Section and Diabetes CenterAlexandra General Hospital, Athens, Greece.
authors.forename: E
authors.initials: E
authors.lastname: Anastasiou
authors.affiliation: Endocrine UnitDepartment of Clinical Therapeutics, School of Medicine, Alexandra General Hospital, Athens University, Athens, GreeceImmunology DepartmentAlexandra General Hospital, Athens, GreeceHematology-Lymphomas Department and BMT UnitEvaggelismos General Hospital, Athens, GreeceDepartment of Endocrinology-Endocrine OncologyTheageneio Cancer Hospital, Thessaloniki, Greece1st Endocrine Section and Diabetes CenterAlexandra General Hospital, Athens, Greece.
authors.forename: M
authors.initials: M
authors.lastname: Alevizaki
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D018276:Carcinoma, Medullary / Q000151:congenital / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D018278:Carcinoma, Neuroendocrine; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005820:Genetic Testing; D006115:Greece / Q000453:epidemiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D018813:Multiple Endocrine Neoplasia Type 2a / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D015995:Prevalence; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D062606:Tertiary Care Centers; D013964:Thyroid Neoplasms / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D055815:Young Adult
chemical_list: D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human