BRCA1


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Related to BRCA1: BRCA2

BRCA1

symbol for a breast cancer gene. BRCA1 is a tumor suppressor gene. A healthy BRCA1 gene produces a protein that protects against unwanted cell growth. The protein is packaged by the cell's Golgi apparatus into secretory vesicles, which release their contents on the cell's surface. The protein circulates in the intracellular space, attaching itself to neighboring cell receptors. The receptors signal the cell nuclei to stop growing. When the gene is defective, it produces a faulty protein that is unable to prevent proliferation of abnormal cells as they evolve into potentially deadly breast cancer. BRCA1 may also normally inhibit ovarian cancer.

BRCA1

A gene on chromosome 17q21, which encodes a protein that plays a role in maintaining genomic stability and acts as a tumour suppressor. It combines with other tumour suppressors, DNA damage sensors and signal transducers to form a large multi-subunit-protein complex known as the BRCA1-associated genome surveillance complex (BASC), which associates with RNA polymerase II and histone deacetylase complexes, thus playing a role in transcription, DNA repair of double-stranded breaks and recombination. BRCA1 mutations cause 40% of inherited breast cancers and over 80% of inherited breast and ovarian cancers.

BRCA1

Molecular oncology A large tumor suppressor gene on chromosome 17 which is linked to breast, ovarian, prostate and other CAs; Pts with BRCA1 represent 5% of all breast CAs; ♀ with BRCA1 have an 85% chance of developing breast CA before age 65; mutations of BRCA1 are common in Ashkenazi Jews Lab BRCA1 and BRCA2 are part of some commercial diagnostic labs' genetic services. See Tumor suppressor gene.
References in periodicals archive ?
BRCA1 gene, located in chromosome 17 (locus: 17q12-q21), was identified in 1990 after studying 23 families with a total of 143 cases of breast and ovarian cancer (16), while BRCA2 gene was identified in 1994 in chromosome 13 (locus: 13q12-q13) through a study that analyzed 15 families at high risk of familial breast cancer, including male cases (17-19).
The majority of clinical trials of PARP inhibitors have so far only focused on patients with inherited mutations BRCA1 and BRCA2 genes.
The data also illustrate why rare variations in the BRCA1 gene are not always mutations that put women and men at high risk for specific cancers.
We aimed to study the mutations in tumor samples as a comparison to normal samples, secondly to find out the gene expression of BRCA1 and COX-2 in the tissues of mammary tumor as compared to normal mammary tissues and thirdly to co-relate the type of mutation with mammary tumors as compared to normal samples.
Se analizo la expresion de BRCA1 por inmunohistoquimica (IHQ) y se compararon los resultados obtenidos con la clasificacion de las lesiones benignas, subtipos moleculares intrinsecos y variables clinico-patologicas (edad, estadio clinico, grado histologico y supervivencia).
18 cases would be expected among women with the BRCA1 mutation over the time period analyzed, meaning the women with the BRCA1 trait were at significantly higher risk.
18 incident cases would be expected, translating into an observed-to-expected ratio for women with BRCA1 of 22.
The team also found that BRCA1 relies on a partner protein, BARD1, to perform its ubiquitin attachment role.
Researcher Dr Jo Morris, of Birmingham University, said: "We know loss of BRCA1 is associated with a high risk of breast cancer, so getting to grips with this gene has been a major aim of breast cancer research.
of Gladstone Institute of Neurological Disease, San Francisco, and her colleagues found low levels of BRCA1 protein, a DNA repair enzyme, in the brains of deceased Alzheimer's and mild cognitive impairment patients, compared with controls, as well as in mouse models of Alzheimer's.
BRCA1 high grade negative expression and COX-2 positive gene expression were observed in this study.