Assuntos
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias da Mama , Doenças Genéticas Inatas , Mutação , Neoplasias Ovarianas , Proteínas Reguladoras de Apoptose , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Neoplasias da Mama/prevenção & controle , Neoplasias da Mama/terapia , Feminino , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Doenças Genéticas Inatas/terapia , Humanos , Masculino , Neoplasias Ovarianas/diagnóstico , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/prevenção & controle , Neoplasias Ovarianas/terapiaRESUMO
Medical Research Institute of Radiology, Russian Academy Forty-eight cases of familial disease (24 families) (4.3%) were identified among 1,118 patients with well-differentiated thyroid carcinoma who had been either examined or treated at the Clinic of Medical Research Institute of Radiology (1995-2004). In 86% of the study group, papillary thyroid carcinoma (PTC) was associated with tumor of the identical histological pattern while the remaining families revealed association with follicular or medullary thyroid cancer. Carcinoma inheritable from mother was the most frequent (75%). No differences in manifestation, histological pattern, stage or clinical course were established following a detailed evaluation of clinico-morphological data on 43 familial and 172 sporadic (control) cases in both groups. The analysis pointed to a significantly higher incidence of concomitant thyroid pathology in the familial thyroid cancer group. Molecular-genetic study of RET-protooncogene and gene BRAF in 6 blood samples from PTC-bearers established RET-mutation (mother and daughter) in codon 891 (exon 15) G2673A (TCG->TCA). No mutation in BRAF was found.
Assuntos
Neoplasias da Glândula Tireoide/genética , Adenocarcinoma Folicular/genética , Adulto , Idoso , Alanina , Carcinoma Medular/genética , Carcinoma Papilar/genética , Feminino , Glicina , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas Proto-Oncogênicas c-ret/genética , Neoplasias da Glândula Tireoide/patologiaRESUMO
Frequency of RET/PTC rearrangement and somatic BRAF mutation was investigated in patients with papillary thyroid cancer (PTC) vis-a-vis relevant demographic and clinico-pathological features. The study group included 76 patients with a female/male ratio of 4.8:1; mean age - 45.7 +/- 9.7 yrs. BRAF mutation was identified in 49 (65%) (V600E--47, KSRWS600--1 and E585K--1). RET rearrangement was detected in 9 (12%): RET/PTC1--5, RET/PTC3--2, unspecified RET/PTC--1 and delta RET/PTC--1. It was age at diagnosis alone that proved to be consistently associated with BRAF mutations (p = 0.017). Younger tumor patients were mostly prone to RET/PTC rearrangement (p = 0.08). No correlation between mutation and clinico-pathological features was established.
