Medical Knowledge Cockpit breast cancer, susceptibility to

 

PALB2

Somatic tumors

Tumor types germline

Wilms tumour, medulloblastoma, AML ,breast

Cancer Syndrom

Fanconi anaemia N, breast cancer susceptibility

Translocation partner

Name

partner and localizer of BRCA2

Chromosome banding

16p12.1

Cancer molecular gen.

Rec

Mutation type

F, N, Mis

Other syndrome disease

 

BARD1

This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability tobind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminalRING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety ofproteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes.This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenicamino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may bean essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breastor ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been foundfor this gene. (provided by RefSeq, Sep 2013)

This gene encodes a protein which interacts with the N-terminal region of BRCA1

In addition to its ability tobind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminalRING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety ofproteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes.This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenicamino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may bean essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breastor ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been foundfor this gene. (provided by RefSeq, Sep 2013)

 

BRCA2

• RAD51 interacts with the evolutionarily conserved BRC motifs in the human breast cancer susceptibility gene brca2
• Multiple possible sites of BRCA2 interacting with DNA repair protein RAD51
• Insights into DNA recombination from the structure of a RAD51-BRCA2 complex
• 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

ATM

• Yeast two-hybrid screens imply involvement of Fanconi anemia proteins in transcription regulation, cell signaling, oxidative metabolism, and cellular transport
• BASC, a super complex of BRCA1-associated proteins involved in the recognition and repair of aberrant DNA structures
• Functional interaction of H2AX, NBS1, and p53 in ATM-dependent DNA damage responses and tumor suppression

BARD1

• Identification of a RING protein that can interact in vivo with the BRCA1 gene product
• BRCA1-BARD1 complexes are required for p53Ser-15 phosphorylation and a G1/S arrest following ionizing radiation-induced DNA damage
• Adenosine nucleotide modulates the physical interaction between hMSH2 and BRCA1
• BARD1 induces BRCA1 intranuclear foci formation by increasing RING-dependent BRCA1 nuclear import and inhibiting BRCA1 nuclear export
• Nuclear-cytoplasmic shuttling of BARD1 contributes to its proapoptotic activity and is regulated by dimerization with BRCA1

CHEK2

• Is CHEK2 a cause of the Li-Fraumeni syndrome?

HMMR

• THE HYALURONAN RECEPTORS CD44 AND RHAMM (CD168) FORM COMPLEXES WITH ERK1,2, WHICH SUSTAIN HIGH BASAL MOTILITY IN BREAST CANCER CELLS

PALB2

• Association of common PALB2 polymorphisms with breast cancer risk: a case-control study

PHB

• Prohibitin, a potential tumor suppressor, interacts with RB and regulates E2F function
• The Prohibitins: emerging roles in diverse functions

XRCC3

• Correction of chromosomal instability and sensitivity to diverse mutagens by a cloned cDNA of the XRCC3 DNA repair gene