BRCA2


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Related to BRCA2: BRCA1

BRCA2

symbol for a breast cancer gene with activity similar to that of BRCA1.

BRCA2

A gene on chromosome 13q12.3 that encodes a protein which, like BRCA1, is involved in maintenance of genome stability, especially the homologous recombination pathway for double-stranded DNA repair; like BRCA1, it carries a marked increase in the lifetime risk of breast and ovarian cancer.

BRCA2

Molecular oncology A tumor suppressor gene linked to breast and ovarian CA See Tumor suppressor gene.
References in periodicals archive ?
Tabla 1 Frecuencia de las tres mutaciones fundadoras en poblacion colombiana no seleccionada Mutacion n (%) IC 95% 3450del4 positivos (BRCA1) 12 (1,6%) (0,8-2,7) A1708E positivos (BRCA2) 10 (1,3%) (0,6-2,4) Total BRCA1 positivos 22 (2,9%) (1,8-4,3) Total BRCA2 (3034del4) positivos 10 (1,3%) (0,6-2,4) Total BRCA1/BRCA2 32 (4,2%) (2,9-5,8) Total pacientes analizadas: 766 Total pacientes portadoras de mutacion: 32 Tabla 2 Calculo de penetrancia de las mutaciones fundadoras en poblacion colombiana no seleccionada Mutacion Penetrancia-40 anos Penetrancia-50 anos % IC 95% % IC 95% 3450del4 25,0 (6,9-68,5) 43,8 (15,9-85,3) A1708E 12,5 (1,9-61,3) 25 (6,9-68,5) Total BRCA1 18,8 (6,5-47,5) 33,3 (15,2-63,1) Total BRCA2 (3034del4) 10,0 (1,5-52,7) 32,5 (11,8-70,9)
breast cancer, reducing the risk by 78 percent in both BRCA1 and BRCA2 carriers.
Un analisis combinado de 22 estudios realizados en individuos portadores de mutaciones en estos genes y seleccionados independientemente de la historia familiar, ha revelado que el riesgo acumulado de padecer cancer de mama a los 70 anos es del 65% para portadoras de mutacion en BRCA1 y del 45% para BRCA2 (28).
TATs for BRCA1 and BRCA2 testing in our laboratory in Nijmegen have varied over the years, depending on the respective test performed (denaturing gradient gel electrophoresis in combination with protein truncation test; Sanger sequencing; AmpliSeq/IonTorrent PGM, smMIP/NextSeq500).
En la poblacion general, la prevalencia estimada de ser portador de la mutacion en BRCA1 y BRCA2 al nacer es 0,11 y 0,12% respectivamente.
We analyzed BRCA1 and BRCA2 genes; a total of eight BRCA deleterious germline mutations were found in eight unrelated patients with frequency of 20% (8/40), four within BRCA1 and four within BRCA2; these mutations range from deletion or substitution of a single nucleotide to whole deletions of one or more exon of either BRCA1 or BRCA2.
In August 2012, a 3-judge panel of the CAFC reaffirmed its earlier decision on the patent eligibility of isolated and purified BRCA1 and BRCA2 genes, leading the plaintiffs to appeal to the Supreme Court for a final resolution.
Among the women with BRCA2 mutations, 6,180 (52%) developed breast cancer, 682 (6%) developed ovarian cancer, and 272 (2%) developed both breast and ovarian cancer.
In a seminal study, it was shown that tumor cell lines that carried germline mutations in BRCA2 were especially sensitive to PARP inhibitor compounds, laying the groundwork for many more years of preclinical and clinical development for pharmaceutical companies and the academic sector.
The defect in BRCA2 - best known for its role in breast cancer - increases the risk of developing lung cancer by about 1.