RESUMEN
BACKGROUND: Breast cancer screening programs seem to be an insufficient tool for women at high genetic risk for breast cancer. These women are not adequately monitored yet. Genetic testing may improve clearly the quality of breast cancer prevention programs. At present, blood samples are favored for obtaining high-quality DNA; however, DNA can also be obtained by collecting saliva. The aim of this study was, on the one hand, to determine whether saliva sampling is a practicable means to obtain sufficient quantity and quality of DNA and, on the other hand, whether it is accepted by patients throughout mammographic diagnostics. METHODS: 67 consecutive women with diagnostic need for mammography with or without a family history for breast cancer were asked for their basic willingness to undergo a genetic testing by saliva sample in addition to standard diagnostics. Saliva samples were analyzed in terms of DNA quantity and quality. RESULTS: 64 (95.6%) women agreed to provide a saliva sample; 3 of them denied participation. And even 63 out of 64 (98.4%) were interested in their specific results. 45 out of 64 samples contained a DNA concentration above 50 ng/µl, 12 samples were between 25 and 50 ng/µl and only 7 of them were under 25 ng/µl with the standard extraction procedure. CONCLUSION: A high number of patients seem to accept salvia samples as a risk assessment tool in breast diagnostics and are interested in their specific risk situation. At the same time, it could be demonstrated that it is an effective way to provide high-quality DNA for breast cancer gene analysis. However, it remains to be shown whether it would be possible to integrate it with the same acceptance in a nationwide breast cancer screening program.
Asunto(s)
Neoplasias de la Mama/genética , ADN/genética , Genotipo , Saliva/metabolismo , Adulto , Neoplasias de la Mama/patología , Femenino , Pruebas Genéticas , Humanos , Mamografía/métodos , Persona de Mediana Edad , Polimorfismo de Nucleótido Simple/genética , Factores de RiesgoRESUMEN
BACKGROUND: To improve breast cancer treatment, the evaluation of predictive factors is in the focus of clinical research. Significant discrepancies between the clinical assessment of response to neoadjuvant chemotherapy (NACT) and the pathological assessment of response from post-therapy surgical specimens have been demonstrated. We focused on comparing the value of various diagnostic methods used in medical routine. PATIENTS AND METHODS: A clinical evaluation of the primary tumour and regional lymph nodes before and after NACT was performed in 139 patients by physical examination, sonography and mammography. RESULTS: Mammography and physical examination correlated best with pathological findings in the measurement of the tumour, whereas sonography was the most accurate predictor of the status for axillary lymph nodes. CONCLUSION: Mammography and physical examination are the best non-invasive predictors of the real size of the primary breast cancer, whereas sonography correlates better with the proven status of axillary lymph nodes.