RESUMEN
When a family is known to have a BRCA mutation, genetic testing for family members is typically limited to single site analysis of the known mutation. The exception to this is in Ashkenazi Jewish families, where testing for the three common Ashkenazi Jewish BRCA mutations is recommended. We report two cases, one without Ashkenazi Jewish ancestry and one with maternal Ashkenazi Jewish ancestry, who underwent Comprehensive BRACAnalysis testing despite known BRCA1 mutations in family members. Testing identified the BRCA1 mutation previously identified, and a second mutation in BRCA2. These cases raise the question of whether or not Single Site BRACAnalysis for a known familial BRCA mutation is always the appropriate test when testing an affected individual. The implications of missing a second mutation are discussed.
Asunto(s)
Proteína BRCA1/genética , Proteína BRCA2/genética , Neoplasias de la Mama/genética , Análisis Mutacional de ADN , Pruebas Genéticas , Mutación de Línea Germinal , Hallazgos Incidentales , Neoplasias Ováricas/genética , Adulto , Anciano , Neoplasias de la Mama/etnología , Análisis Mutacional de ADN/métodos , Errores Diagnósticos/prevención & control , Detección Precoz del Cáncer , Femenino , Predisposición Genética a la Enfermedad , Pruebas Genéticas/métodos , Herencia , Humanos , Judíos/genética , Persona de Mediana Edad , Neoplasias Ováricas/etnología , Linaje , Valor Predictivo de las Pruebas , Medición de Riesgo , Factores de Riesgo , Adulto JovenRESUMEN
Risk assessment evaluation and breast cancer (BRCA) testing can occur in situations where a woman considers herself to be at increased risk for developing breast cancer or her physicians, either during routine evaluation or after diagnosis of unilateral breast cancer, consider her to be at risk for harboring a genetic predisposition to breast malignancy. This study examined the impact of risk assessment counseling on trends in breast surgery and cost of care. A retrospective chart review was performed from January 1, 1999 to December 31, 2008 for women older than 18 years who underwent breast surgery for malignancy or prophylaxis, had at least 1-year follow-up, and underwent genetic counseling. From the total number of women treated at our institution who underwent unilateral or bilateral mastectomy, we identified 102 women who underwent genetic counseling and selected 199 patients who did not undergo counseling to create a 4:1 retrospective case-control study. Patients who underwent BRCA gene testing and/or counseling were compared with patients who did not (controls). The study was powered at 70%, and alpha was set at 0.05. Counseled patients were >9 times more likely to undergo bilateral mastectomies (odds ratio = 9.18). They were younger (46.4 vs. 61.8) and incurred higher total costs ($10,810 vs. $7,266) (P < 0.002). The same trend was observed in each group. In counseled and control groups, younger women chose bilateral mastectomies (mean 44.4; 55.5), whereas older women chose unilateral procedures (mean 49.8; 63.02) (P < 0.014). Total cost for bilateral mastectomies was greater than unilateral mastectomies for both groups. Of 55 counseled patients undergoing mastectomies (85 breasts), 78 (92%) breasts were reconstructed, whereas 113 (49%) of 230 breasts were reconstructed in the control group. There was a statistically significant association between counseling with BRCA testing and decision to undergo bilateral as opposed to unilateral mastectomies. Younger women were also more likely to choose bilateral mastectomies whether or not they underwent counseling. Furthermore, a greater proportion of counseled women who underwent reconstruction opted to have bilateral implants. At our institution, younger women tend to choose costlier options.
