RESUMEN
PURPOSE: This study describes practitioner knowledge and practices related to BRCA testing and management and explores how training may contribute to practice patterns. METHODS: A survey was mailed to all BRCA testing providers in Florida listed in a publicly available directory. Descriptive statistics characterized participants and their responses. RESULTS: Of the 87 respondents, most were community-based physicians or nurse practitioners. Regarding BRCA mutations, the majority (96%) recognized paternal inheritance and 61% accurately estimated mutation prevalence. For a 35-year-old unaffected BRCA mutation carrier, the majority followed national management guidelines. However, 65% also recommended breast ultrasonography. Fewer than 40% recognized the need for comprehensive rearrangement testing when BRACAnalysis(®) was negative in a woman at 30% risk. Finally, fewer than 15% recognized appropriate testing for a BRCA variant of uncertain significance. Responses appeared to be positively impacted by presence and type of cancer genetics training. CONCLUSIONS: In our sample of providers who order BRCA testing, knowledge gaps in BRCA prevalence estimates and appropriate screening, testing, and results interpretation were identified. Our data suggest the need to increase regulation and oversight of genetic testing services at a policy level, and are consistent with case reports that reveal liability risks when genetic testing is conducted without adequate knowledge and training.
Asunto(s)
Neoplasias de la Mama/diagnóstico , Neoplasias de la Mama/tratamiento farmacológico , Encuestas de Atención de la Salud , Conocimientos, Actitudes y Práctica en Salud , Neoplasias Ováricas/diagnóstico , Neoplasias Ováricas/tratamiento farmacológico , Pautas de la Práctica en Medicina , Adulto , Proteína BRCA1/genética , Neoplasias de la Mama/genética , Neoplasias de la Mama/psicología , Femenino , Florida , Asesoramiento Genético , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Humanos , Masculino , Neoplasias Ováricas/genética , Neoplasias Ováricas/psicología , Factores de RiesgoRESUMEN
BACKGROUND: Utility of immunohistochemistry (IHC) for mismatch repair (MMR) protein expression has been demonstrated in colorectal cancer but remains incompletely defined in ovarian cancer. We evaluated MMR protein expression in three population-based samples of epithelial ovarian cancers. MATERIALS AND METHODS: IHC staining was performed on full-section (FS) or tissue microarray (TMA) slides for MLH1, MSH2, and MSH6 expression. RESULTS: Out of 487 cases, 147 and 340 were performed through FS and TMA, respectively. Overall, Loss of Expression (LoE) of at least one MMR protein was observed in 12.7% based on an expression score of ≤3 (on a scale of 9). Notably, LoE was significantly higher in TMAs (17.9%) compared to FS cases (0.7%) (p<0.001). CONCLUSION: A substantial proportion of epithelial ovarian cancers have a loss of MMR protein expression. Protein expression results vary significantly by the tissue sampling methodology utilized, raising concerns about the clinical utility of this test for ovarian tumors.