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BRCA1
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BRCA1
Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 (/ˌbrækəˈwʌn/) gene. Orthologs are common in other vertebrate species, whereas invertebrate genomes may encode a more distantly related gene. BRCA1 is a caretaker gene (responsible for repairing DNA), a type of tumor suppressor gene.
BRCA1 and BRCA2 are unrelated proteins, but both are normally expressed in the cells of breast and other tissues, where they help repair damaged DNA, or destroy cells if DNA cannot be repaired. They are involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double-strand breaks. If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer. BRCA1 and BRCA2 have been described as "breast cancer susceptibility genes" and "breast cancer susceptibility proteins". The predominant allele has a normal, tumor-suppressive function, whereas high penetrance mutations in these genes cause a loss of tumor-suppressive function, which correlates with an increased risk of breast cancer.
BRCA1 combines with other tumor suppressors, DNA damage sensors and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). The BRCA1 protein associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. Thus, this protein plays a role in transcription, and DNA repair of double-strand DNA breaks ubiquitination, transcriptional regulation as well as other functions.
Methods to test for the likelihood of a patient with mutations in BRCA1 and BRCA2 developing cancer were covered by patents owned or controlled by Myriad Genetics. Myriad's business model of offering the diagnostic test exclusively led from Myriad being a startup in 1994 to being a publicly traded company with 1200 employees and about $500 million in annual revenue in 2012; it also led to controversy over high prices and the inability to obtain second opinions from other diagnostic labs, which in turn led to the landmark Association for Molecular Pathology v. Myriad Genetics lawsuit.
The chromosomal location of BRCA1 was discovered by Mary-Claire King's team at UC Berkeley in 1990. After an international race to refine the precise location of BRCA1, the gene was cloned in 1994 by scientists at University of Utah, National Institute of Environmental Health Sciences (NIEHS) and Myriad Genetics.
BRCA1 orthologs have been identified in most vertebrates for which complete genome data are available.
The BRCA1 protein contains the following domains:
This protein also contains nuclear localization signals and nuclear export signal motifs.
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BRCA1 AI simulator
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BRCA1
Breast cancer type 1 susceptibility protein is a protein that in humans is encoded by the BRCA1 (/ˌbrækəˈwʌn/) gene. Orthologs are common in other vertebrate species, whereas invertebrate genomes may encode a more distantly related gene. BRCA1 is a caretaker gene (responsible for repairing DNA), a type of tumor suppressor gene.
BRCA1 and BRCA2 are unrelated proteins, but both are normally expressed in the cells of breast and other tissues, where they help repair damaged DNA, or destroy cells if DNA cannot be repaired. They are involved in the repair of chromosomal damage with an important role in the error-free repair of DNA double-strand breaks. If BRCA1 or BRCA2 itself is damaged by a BRCA mutation, damaged DNA is not repaired properly, and this increases the risk for breast cancer. BRCA1 and BRCA2 have been described as "breast cancer susceptibility genes" and "breast cancer susceptibility proteins". The predominant allele has a normal, tumor-suppressive function, whereas high penetrance mutations in these genes cause a loss of tumor-suppressive function, which correlates with an increased risk of breast cancer.
BRCA1 combines with other tumor suppressors, DNA damage sensors and signal transducers to form a large multi-subunit protein complex known as the BRCA1-associated genome surveillance complex (BASC). The BRCA1 protein associates with RNA polymerase II, and through the C-terminal domain, also interacts with histone deacetylase complexes. Thus, this protein plays a role in transcription, and DNA repair of double-strand DNA breaks ubiquitination, transcriptional regulation as well as other functions.
Methods to test for the likelihood of a patient with mutations in BRCA1 and BRCA2 developing cancer were covered by patents owned or controlled by Myriad Genetics. Myriad's business model of offering the diagnostic test exclusively led from Myriad being a startup in 1994 to being a publicly traded company with 1200 employees and about $500 million in annual revenue in 2012; it also led to controversy over high prices and the inability to obtain second opinions from other diagnostic labs, which in turn led to the landmark Association for Molecular Pathology v. Myriad Genetics lawsuit.
The chromosomal location of BRCA1 was discovered by Mary-Claire King's team at UC Berkeley in 1990. After an international race to refine the precise location of BRCA1, the gene was cloned in 1994 by scientists at University of Utah, National Institute of Environmental Health Sciences (NIEHS) and Myriad Genetics.
BRCA1 orthologs have been identified in most vertebrates for which complete genome data are available.
The BRCA1 protein contains the following domains:
This protein also contains nuclear localization signals and nuclear export signal motifs.
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