label |
Hereditary Breast and Ovarian Cancer Syndrome
|
prefLabel |
Hereditary Breast and Ovarian Cancer Syndrome
|
database_cross_reference |
PS:PathwayType
PS:Description
PS:Tissue
PS:Pathway_Author
PS:Link
PS:CellType
PS:Organ_System
PS:PMID
PS:NodeType
PS:Notes
PS:Organ
PS:Source
See more
See less
|
notation |
uuid-f06f24ba-d98a-47ee-aef1-c610e3ae0f9b
|
id |
urn:agi-pathway:uuid-f06f24ba-d98a-47ee-aef1-c610e3ae0f9b
|
subClassOf |
urn:agi-folder:nucleus
urn:agi-folder:reproductive_system
urn:agi-folder:hereditary_syndromes_associated_with_breast_and/or_ovarian_cancer
urn:agi-folder:h
urn:agi-folder:epithelium
urn:agi-folder:integumentary_system
See more
See less
|
type |
|
has_exact_synonym |
PathwayType: signaling
Link: https://mammal-profservices.pathwaystudio.com/app/sd?urn=urn:agi-pathway:uuid-f06f24ba-d98a-47ee-aef1-c610e3ae0f9b
CellType: epithelial cell
PMID: 17901820
Description: Hereditary Breast and Ovarian Cancer Syndrome (HBOC) is an autosomal dominant hereditary disorder. Pathway is built manually using published studies.
Tissue: epithelium
Organ: ovary
Organ_System: reproductive system
PMID: 22434244
PMID: 20494261
NodeType: Pathway
Notes: Headnote: Hereditary breast and ovarian cancer syndrome (HBOC) is an autosomal dominant hereditary disorder characterized by an increased risk of breast and ovarian cancers, fallopian tube carcinoma, and papillary serous carcinoma of the peritoneum. Other signs include an early onset of cancer, increased chance of bilateral cancers, family history of male breast and prostate cancer, and an increased risk of colorectal, pancreas, and stomach cancer. Signaling description: Approximately 5-10% of breast and ovarian cancers are related to an inherited gene mutation. Of these cases, 84% of hereditary breast cancer and more than 90% of hereditary ovarian cancer are caused by germline mutations in the BRCA1 and/or BRCA2 genes. Rare cases of HBOC are due to a germline mutation in the DNA repair genes. The major pathogenic processes in HBOC include increased cell proliferation, block of apoptosis and chromatin remodeling, dysfunction of DNA repair, and loss of cell differentiation. Normally, BRCA1 and BRCA2 play a central role in DNA repair, response to DNA damage, prevention of chromosome breaks, and genomic stability. BRCA1 interacts with the DNA mismatch repair protein complex (MLH1/MSH2/MSH3/MSH6) and genes that participate in homologous recombination and double-strand break repair such as BRCA2, RAD51, BRIP1, PALB2, MRN complex (RAD50/MRE11A/NBN), and PARP1/2. Outcome effects: Mutations in these genes lead to block of DNA repair and a dysfunction in the DNA damage response. Furthermore, BRCA1 suppresses ESR1 and its coactivator, EP300, which participate in the formation of the chromatin remodeling complexes, KAT2B/MYSM1 and KAT2A/TADA2A/TADA3 and induce the expression of downstream target genes that are involved in cell proliferation, differentiation, and apoptosis. Highlighted proteins: Proteins with increased expression or activity are highlighted in red. Mutated genes: Mutated genes are shown in white-out style.
Organ_System: integumentary system
Organ: breast
Pathway_Author: M. Zharkova ORCID:0000-0001-8706-9411
Source: Diseases
See more
See less
|
treeView |
urn:agi-folder:nucleus
urn:agi-folder:reproductive_system
urn:agi-folder:hereditary_syndromes_associated_with_breast_and/or_ovarian_cancer
urn:agi-folder:h
urn:agi-folder:epithelium
urn:agi-folder:integumentary_system
See more
See less
|