MCID: HRD114
MIFTS: 25

Hereditary Site-Specific Ovarian Cancer Syndrome

Categories: Cancer diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hereditary Site-Specific Ovarian Cancer Syndrome

MalaCards integrated aliases for Hereditary Site-Specific Ovarian Cancer Syndrome:

Name: Hereditary Site-Specific Ovarian Cancer Syndrome 58 6

Characteristics:

Orphanet epidemiological data:

58
hereditary site-specific ovarian cancer syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

Classifications:

Orphanet: 58  
Rare gynaecological and obstetric diseases


External Ids:

ICD10 via Orphanet 33 C56
Orphanet 58 ORPHA213524

Summaries for Hereditary Site-Specific Ovarian Cancer Syndrome

MalaCards based summary : Hereditary Site-Specific Ovarian Cancer Syndrome is related to fanconi anemia, complementation group n and breast-ovarian cancer, familial 4. An important gene associated with Hereditary Site-Specific Ovarian Cancer Syndrome is RAD51C (RAD51 Paralog C), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Meiosis. Affiliated tissues include breast, ovary and colon, and related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

Related Diseases for Hereditary Site-Specific Ovarian Cancer Syndrome

Diseases related to Hereditary Site-Specific Ovarian Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group n 10.0 RAD51C BRCA2
2 breast-ovarian cancer, familial 4 10.0 RAD51L3-RFFL RAD51D
3 lynch syndrome i 9.9 RAD51L3-RFFL RAD51D
4 fallopian tube clear cell adenocarcinoma 9.9 BRCA2 BRCA1
5 ovary transitional cell carcinoma 9.9 BRCA2 BRCA1
6 basaloid lung carcinoma 9.9 BRCA2 BRCA1
7 cancerophobia 9.9 BRCA2 BRCA1
8 nosophobia 9.9 BRCA2 BRCA1
9 tetraploidy 9.9 BRCA2 BRCA1
10 b-lymphoblastic leukemia/lymphoma 9.9 BRCA2 BRCA1
11 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 9.9 BRCA2 BRCA1
12 ruvalcaba syndrome 9.9 BRCA2 BRCA1
13 breast-ovarian cancer, familial 2 9.9 BRCA2 BRCA1
14 intracystic papillary adenoma 9.9 BRCA2 BRCA1
15 endosalpingiosis 9.9 BRCA2 BRCA1
16 cervical adenoma malignum 9.9 BRCA2 BRCA1
17 mutagen sensitivity 9.9 BRCA2 BRCA1
18 primary peritoneal carcinoma 9.9 BRCA2 BRCA1
19 synchronous bilateral breast carcinoma 9.9 BRCA2 BRCA1
20 dysplastic nevus syndrome 9.9 BRCA2 BRCA1
21 hypertrophy of breast 9.9 BRCA2 BRCA1
22 female reproductive endometrioid cancer 9.8 BRCA2 BRCA1
23 papillary serous adenocarcinoma 9.8 BRCA2 BRCA1
24 hereditary nonpolyposis colon cancer 9.8 BRCA2 BRCA1
25 lobular neoplasia 9.8 BRCA2 BRCA1
26 thoracic benign neoplasm 9.8 BRCA2 BRCA1
27 breast benign neoplasm 9.8 BRCA2 BRCA1
28 ovarian cystadenocarcinoma 9.8 BRCA2 BRCA1
29 uterine corpus cancer 9.8 BRCA2 BRCA1
30 dysgerminoma 9.8 BRCA2 BRCA1
31 myasthenic syndrome, congenital, 6, presynaptic 9.8 BRCA2 BRCA1
32 papillary adenocarcinoma 9.8 BRCA2 BRCA1
33 bilateral breast cancer 9.8 BRCA2 BRCA1
34 female breast cancer 9.8 BRCA2 BRCA1
35 ovary adenocarcinoma 9.8 BRCA2 BRCA1
36 pre-malignant neoplasm 9.8 BRCA2 BRCA1
37 serous cystadenocarcinoma 9.8 BRCA2 BRCA1
38 in situ carcinoma 9.8 BRCA2 BRCA1
39 breast carcinoma in situ 9.8 BRCA2 BRCA1
40 bloom syndrome 9.7 BRCA2 BRCA1
41 ductal carcinoma in situ 9.7 BRCA2 BRCA1
42 malignant ovarian surface epithelial-stromal neoplasm 9.7 BRCA2 BRCA1
43 ovary epithelial cancer 9.7 BRCA2 BRCA1
44 cowden syndrome 1 9.7 BRCA2 BRCA1
45 familial ovarian cancer 9.6 RAD51C BRCA2 BRCA1
46 breast-ovarian cancer, familial 1 9.6 RAD51C BRCA2 BRCA1
47 fanconi anemia, complementation group d1 9.6 RAD51C BRCA2 BRCA1
48 fanconi anemia, complementation group j 9.6 RAD51C BRCA2 BRCA1
49 melanoma, cutaneous malignant 1 9.6 BRCA2 BRCA1
50 sporadic breast cancer 9.6 RAD51C BRCA2 BRCA1

Graphical network of the top 20 diseases related to Hereditary Site-Specific Ovarian Cancer Syndrome:



Diseases related to Hereditary Site-Specific Ovarian Cancer Syndrome

Symptoms & Phenotypes for Hereditary Site-Specific Ovarian Cancer Syndrome

GenomeRNAi Phenotypes related to Hereditary Site-Specific Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.56 BRCA1 BRCA2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.56 BRCA1 BRCA2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.56 BRCA1 BRCA2 RAD51C RAD51D
4 Decreased viability after ionizing radiation GR00232-A-2 9.32 BRCA1 BRCA2
5 Decreased viability with cisplatin GR00101-A-4 9.26 BRCA1 BRCA2
6 Synthetic lethal with cisplatin GR00101-A-1 9.16 BRCA1 BRCA2
7 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.8 BRCA1 BRCA2 RAD51D

Drugs & Therapeutics for Hereditary Site-Specific Ovarian Cancer Syndrome

Search Clinical Trials , NIH Clinical Center for Hereditary Site-Specific Ovarian Cancer Syndrome

Genetic Tests for Hereditary Site-Specific Ovarian Cancer Syndrome

Anatomical Context for Hereditary Site-Specific Ovarian Cancer Syndrome

MalaCards organs/tissues related to Hereditary Site-Specific Ovarian Cancer Syndrome:

40
Breast, Ovary, Colon, Lung

Publications for Hereditary Site-Specific Ovarian Cancer Syndrome

Variations for Hereditary Site-Specific Ovarian Cancer Syndrome

ClinVar genetic disease variations for Hereditary Site-Specific Ovarian Cancer Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RAD51C NM_058216.3(RAD51C):c.904+5G>T SNV Pathogenic 142762 rs587782702 GRCh37: 17:56798178-56798178
GRCh38: 17:58720817-58720817
2 RAD51C NM_058216.3(RAD51C):c.1026+5_1026+7del Deletion Pathogenic 128201 rs587781410 GRCh37: 17:56809909-56809911
GRCh38: 17:58732548-58732550
3 RAD51D , RAD51L3-RFFL NM_002878.3(RAD51D):c.904-2A>T SNV Pathogenic 472631 rs1403784434 GRCh37: 17:33428057-33428057
GRCh38: 17:35101038-35101038

Expression for Hereditary Site-Specific Ovarian Cancer Syndrome

Search GEO for disease gene expression data for Hereditary Site-Specific Ovarian Cancer Syndrome.

Pathways for Hereditary Site-Specific Ovarian Cancer Syndrome

GO Terms for Hereditary Site-Specific Ovarian Cancer Syndrome

Cellular components related to Hereditary Site-Specific Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 replication fork GO:0005657 9.26 RAD51D RAD51C
2 chromosome GO:0005694 9.26 RAD51D RAD51C BRCA2 BRCA1
3 lateral element GO:0000800 9.16 BRCA2 BRCA1
4 Rad51B-Rad51C-Rad51D-XRCC2 complex GO:0033063 8.62 RAD51D RAD51C

Biological processes related to Hereditary Site-Specific Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.67 RAD51D RAD51C BRCA2 BRCA1
2 DNA repair GO:0006281 9.56 RAD51D RAD51C BRCA2 BRCA1
3 double-strand break repair GO:0006302 9.51 BRCA2 BRCA1
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.49 BRCA2 BRCA1
5 reciprocal meiotic recombination GO:0007131 9.48 RAD51D RAD51C
6 chromosome organization GO:0051276 9.46 RAD51D BRCA2
7 DNA recombination GO:0006310 9.46 RAD51D RAD51C BRCA2 BRCA1
8 male meiosis I GO:0007141 9.43 RAD51C BRCA2
9 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.4 BRCA2 BRCA1
10 chordate embryonic development GO:0043009 9.32 BRCA2 BRCA1
11 telomere maintenance via recombination GO:0000722 9.13 RAD51D RAD51C BRCA2
12 double-strand break repair via homologous recombination GO:0000724 8.92 RAD51D RAD51C BRCA2 BRCA1

Molecular functions related to Hereditary Site-Specific Ovarian Cancer Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.62 RAD51D RAD51C BRCA2 BRCA1
2 single-stranded DNA binding GO:0003697 9.26 RAD51D BRCA2
3 DNA-dependent ATPase activity GO:0008094 9.16 RAD51D RAD51C
4 gamma-tubulin binding GO:0043015 8.96 RAD51D BRCA2
5 four-way junction DNA binding GO:0000400 8.62 RAD51D RAD51C

Sources for Hereditary Site-Specific Ovarian Cancer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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