Medical Knowledge Cockpit breast-ovarian cancer, familial

 

RAD51C

This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA andSaccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA.This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junctionresolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of fourlocalized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpressionof the four genes during amplification has been observed and suggests a possible role in tumor progression.Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jul 2013)

This gene is a member of the RAD51 family

RAD51 family members are highly similar to bacterial RecA andSaccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA.This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junctionresolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of fourlocalized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpressionof the four genes during amplification has been observed and suggests a possible role in tumor progression.Alternative splicing results in multiple transcript variants. (provided by RefSeq, Jul 2013)

 

BRCA1

Somatic tumors

ovarian

Tumor types germline

breast, ovarian

Cancer Syndrom

hereditary breast/ovarian cancer

Translocation partner

Name

familial breast/ovarian cancer gene 1

Chromosome banding

17q21

Cancer molecular gen.

Rec

Mutation type

D, Mis, N, F, S

Other syndrome disease

 

BRCA1

• Functional and physical interactions between BRCA1 and p53 in transcriptional regulation of the IGF-IR gene
• BRCA1 regulates p53-dependent gene expression
• BRCA1 physically associates with p53 and stimulates its transcriptional activity
• PALB2 is an integral component of the BRCA complex required for homologous recombination repair
• BRCA1 associates with processive RNA polymerase II

• Bovine BRCA1 shows classic responses to genotoxic stress but low in vitro transcriptional activation activity
• Regulation of BRCA1 phosphorylation by interaction with protein phosphatase 1alpha
• Association of BRCA1 with the hRad50-hMre11-p95 complex and the DNA damage response
• Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells
• Association of BRCA1 with Rad51 in mitotic and meiotic cells
• BRCA1 interacts with components of the histone deacetylase complex
• Rb-associated protein 46 (RbAp46) inhibits transcriptional transactivation mediated by BRCA1
• Identification of proteins that interact with BRCA1 by Far-Western library screening
• Binding of CtIP to the BRCT repeats of BRCA1 involved in the transcription regulation of p21 is disrupted upon DNA damage
• Characterization of a carboxy-terminal BRCA1 interacting protein
• Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response
• Effect of DNA damage on a BRCA1 complex
• Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor
• BRCA1-associated growth arrest is RB-dependent
• Disruption of BRCA1 LXCXE motif alters BRCA1 functional activity and regulation of RB family but not RB protein binding
• BRCA1 interacts with dominant negative SWI/SNF enzymes without affecting homologous recombination or radiation-induced gene activation of p21 or Mdm2
• BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer

 

BRCA2

• RAD51 localization and activation following DNA damage
• Inhibition of breast and brain cancer cell growth by BCCIPalpha, an evolutionarily conserved nuclear protein that interacts with BRCA2
• Stable interaction between the products of the BRCA1 and BRCA2 tumor suppressor genes in mitotic and meiotic cells
• The BRCA2 gene product functionally interacts with p53 and RAD51
• Interaction between BRCA2 and replication protein A is compromised by a cancer-predisposing mutation in BRCA2

• Interaction between the product of the breast cancer susceptibility gene BRCA2 and DSS1, a protein functionally conserved from yeast to mammals
• BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure
• BRCA2 and Smad3 synergize in regulation of gene transcription
• The BRCA2 gene product functionally interacts with p53 and RAD51
• The BRC repeats in BRCA2 are critical for RAD51 binding and resistance to methyl methanesulfonate treatment

RAD51C

• Isolation and characterization of RAD51C, a new human member of the RAD51 family of related genes