Breast cancer (BC) is the most prevalent type worldwide, besides being one of the most common causes of death among women. It has been suggested that sporadic BC is most likely caused by low-penetrance genes, including those involved in DNA repair mechanisms. Furthermore, the accumulation of DNA damage may contribute to breast carcinogenesis. In the present study, the relationship between two DNA repair genes, viz., XRCC1 (Arg399Gln) and XRCC3 (Thr241Met) polymorphisms, and the levels of chromosome damage detected in 65 untreated BC women and 85 healthy controls, was investigated. Chromosome damage was evaluated through micronucleus assaying, and genotypes determined by PCR-RFLP methodology. The results showed no alteration in the risk of BC and DNA damage brought about by either XRCC1 (Arg399Gln) or XRCC3 (Thr241Met) action in either of the two groups. Nevertheless, on evaluating BC risk in women presenting levels of chromosome damage above the mean, the XRCC3 Thr241Met polymorphism was found to be more frequent in the BC group than in the control, thereby leading to the conclusion that there is a slight association between XRCC3 (241 C/T) genotypes and BC risk in the subgroups with higher levels of chromosome damage.

Nódulos de tiróide são comuns na prática médica. Para estabelecer o valor preditivo dos diversos testes diagnósticos, estudamos prospectivamente os dados de exame clínico, cintilografia, ultra-sonografia, citologia aspirativa e tiroglobulina sérica pré-operatória de 110 pacientes com nódulos operados e os comparamos com o diagnóstico anátomo-patológico da cirurgia. Nos 110 pacientes encontramos à histologia 124 lesões distintas, sendo 106 (85%) benignas e 18 (15%) malignas. Entre as benignas havia 90 bócios colóides (73%), 8 adenomas foliculares (6%), 4 cistos tiroglossos (3%) e outras 4 lesões; entre as malignas havia 16 (13%) carcinomas primários da tiróide (9 papilíferos, 3 foliculares, 3 indiferenciados e 1 medular) e 2 secundários. Entre os testes diagnósticos a citologia aspirativa apresentou os melhores resultados (sensibilidade: 94%, especificidade: 97%), em comparação com a cintilografia (sensibilidade: 89%, especificidade: 21%), ultra-sonografia (sensibilidades entre 60 e 100% e especificidades entre 25 e 69%) e tiroglobulina pré-operatória (sensibilidade: 7% para qualquer valor discriminatório e elevada especificidade). Alguns dados clínicos também apresentaram elevada especificidade, mas baixa sensibilidade, como rouquidão, disfagia, aparecimento de nova lesão, adenomegalia cervical e antecedentes de radiação. Neste estudo prospectivo concluímos que a citologia aspirativa é o melhor método disponível para o diagnóstico dos nódulos de tiróide.

Thyroid nodules are common in medical practice. To establish the predictive values of diagnostic tests we studied prospectively the results obtained from physical examination, aspiration cytology, scintigraphy, ultra-sonography and pre-operative serum thyroglobulin in 110 patients operated and compared them with the results obtained from surgical pathology specimens. We found 124 lesions in the 110 patients: 106 (85%) benign and 18 (15%) malignant. The benign were 90 simple goiters (73%), 8 follicular adenomas (6%), 4 thyroglossal cysts (3%) and 4 other rare lesions; the malignant were 16 (13%) primary thyroid carcinomas (9 papillary, 3 follicular, 3 undifferentiated and 1 medullary) and 2 secondary thyroid carcinomas. Aspiration cytology presented the best results (sensitivity: 94%, specificity: 97%), compared with scintigraphy (sensitivity: 89%, specificity: 21%), ultra-sonography (sensitivities from 60 to 100%, specificities from 25 to 69%) and pre-operative serum thyroglobulin (very low sensitivity and high specificity). Few clinical signs and symptoms also presented high specifity, but low sensitivity, as hoarseness, dysphagia, new lesion, cervical adenomegaly and previous local irradiation. We conclude that aspiration cytology is the best available method to diagnose thyroid nodules.