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Related to BRCA2: BRCA1
BRCA2Breast Cancer Gene 2
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Los datos recolectados en los cuestionarios y los resultados del analisis molecular de los genes BRCA1 y BRCA2, se analizaron para frecuencia y penetrancia.
In the recent study, scientists took tumor cells that contained faulty BRCA2 genes and made them resistant to both of these treatments.
Surgical removal of the ovaries (salpingo-oophorectomy) may confer different benefits for women with an inherited risk for breast and ovarian cancer, depending upon whether BRCA1 or BRCA2 is abnormal.
Si tenemos en cuenta que solo 1 de cada 400 individuos (0,24%) es portador de una mutacion en BRCA1 en la poblacion general (14),y que incluso en mujeres jovenes con cancer de mama diagnosticado antes de los 45 anos solo se encuentran mutaciones en BRCA1 o BRCA2 en un 5-7% del total de los casos en ausencia de antecedentes familiares (15), es facil entender que no se recomiende la realizacion de estudios geneticos de forma rutinaria.
Rather than being a barrier to transitioning, genetic counseling can benefit transgender individuals at risk for BRCA1 or BRCA2 mutations by helping them understand their cancer risks and the choices available to them to manage those risks," says Sacca.
While mutations of BRCA1 and BRCA2 were detected in five and five breast cancer cases respectively, they were one and two in individuals at risk.
The normal function of BRCA1 and BRCA2 genes is DNA repair, transcription and recombination, all of which prevent cancer development as part of the tumor suppressor group of genes.
Prior to the study, it was believed that these drugs were only effective for women with an inherited BRCA1 or BRCA2 mutation.
All individuals gave written informed consent for BRCA1 and BRCA2 testing.
To help clarify the issue, investigators at nine comprehensive cancer centers enrolled 627 women with BRCA1 mutations, 453 with BRCA2 mutations, and 3 with mutations in both genes who underwent RRSO without either prior or concomitant hysterectomy.
The NEXTflex BRCA1 and BRCA2 Amplicon Panels are complete kits that include all components necessary for rapidly generating ready-to-sequence libraries, including primer pairs, library prep reagents, size selection beads, and indexed barcodes.