MCID: END056
MIFTS: 35

Endometrial Cancer, Familial malady

Genetic diseases, Cancer diseases, Rare diseases, Reproductive diseases categories

Summaries for Endometrial Cancer, Familial

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MalaCards based summary: Endometrial Cancer, Familial is related to muir-torre syndrome and hereditary diffuse gastric cancer, and has symptoms including endometrial carcinoma An important gene associated with Endometrial Cancer, Familial is MSH6 (mutS homolog 6), and among its related pathways are FGFR ligand binding and activation and Sorafenib Pharmacodynamics. The compounds regorafenib and panitumumab have been mentioned in the context of this disorder. Related mouse phenotypes are pigmentation and embryogenesis.

Description from OMIM:46 608089

Aliases & Classifications for Endometrial Cancer, Familial

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Endometrial Cancer, Familial, Aliases & Descriptions:

Name: Endometrial Cancer, Familial 46


Classifications:



Related Diseases for Endometrial Cancer, Familial

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Diseases in the Endometrial Carcinoma family:

endometrial cancer, familial

Diseases related to Endometrial Cancer, Familial via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 36)
idRelated DiseaseScoreTop Affiliating Genes
1muir-torre syndrome10.5MSH6
2hereditary diffuse gastric cancer10.4CDH1
3stomach cancer10.4CDH1
4gliomatosis cerebri10.3PTEN
5pilocytic astrocytoma10.3PTEN
6neurofibromatosis10.2KRAS, MSH6
7turcot syndrome10.2MSH6, PTEN
8bronchiolo-alveolar adenocarcinoma10.2CDH1, KRAS
9familial colorectal cancer10.2MSH6, PTEN
10rectal neoplasm10.1KRAS, MSH6, MUTYH
11gastric cancer, somatic10.1MUTYH, KRAS, FGFR2
12thyroid cancer, anaplastic10.1PTEN, CDH1
13grade iii astrocytoma10.1FGFR2, PTEN
14renal clear cell carcinoma10.1PTEN, CDH1
15follicular adenoma10.0CDH1, PTEN
16laryngeal squamous cell carcinoma10.0CDH1, PTEN
17colonic benign neoplasm10.0CDH1, KRAS, MSH6
18endometrial carcinoma10.0CDH1, KRAS, PTEN
19thyroid hurthle cell carcinoma10.0CDH1, PTEN
20cholangiocarcinoma9.9CDH1, KRAS
21papillary thyroid carcinoma9.9CDH1, PTEN
22prostate cancer9.9PTEN, CDH1, FGFR2
23lung cancer9.9PTEN, KRAS, CDH1
24pancreatic cancer9.9FGFR2, CDH1, KRAS
25bladder carcinoma9.9FGFR2, CDH1, KRAS, MSH3
26familial adenomatous polyposis9.9MUTYH, MSH6, KRAS, CDH1
27adenoma9.8MUTYH, MSH6, KRAS, CDH1
28ovarian cancer9.8PTEN, MSH6, KRAS, CDH1
29non-small cell lung carcinoma9.8FGFR2, CDH1, KRAS, PTEN
30tongue squamous cell carcinoma9.8PTEN, KRAS, CDH1, FGFR2
31melanoma9.8PTEN, KRAS, CDH1, FGFR2
32adenocarcinoma9.6FGFR2, CDH1, KRAS, MSH6, PTEN
33breast cancer9.6PTEN, MSH6, KRAS, CDH1, FGFR2
34liver cancer9.6PTEN, MUTYH, KRAS, CDH1, FGFR2
35lynch syndrome9.5MLH3, MUTYH, MSH3, MSH6, KRAS
36colorectal cancer9.4PTEN, MUTYH, MSH3, MSH6, KRAS, CDH1

Graphical network of the top 20 diseases related to Endometrial Cancer, Familial:



Diseases related to endometrial cancer, familial

Symptoms for Endometrial Cancer, Familial

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Clinical features from OMIM:

608089

HPO human phenotypes related to Endometrial Cancer, Familial:

id Description Frequency HPO Source Accession
1 endometrial carcinoma HP:0012114

Drugs & Therapeutics for Endometrial Cancer, Familial

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Drug clinical trials:

Search ClinicalTrials for Endometrial Cancer, Familial

Search NIH Clinical Center for Endometrial Cancer, Familial

Genetic Tests for Endometrial Cancer, Familial

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Anatomical Context for Endometrial Cancer, Familial

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Animal Models for Endometrial Cancer, Familial or affiliated genes

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MGI Mouse Phenotypes related to Endometrial Cancer, Familial:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.0FGFR2, KRAS, PTEN
2MP:00053808.5FGFR2, CDH1, KRAS, PTEN
3MP:00053818.2PTEN, KRAS, CDH1, FGFR2
4MP:00107717.9PTEN, MSH3, MSH6, KRAS, CDH1, FGFR2
5MP:00053797.8MLH3, PTEN, KRAS, CDH1, FGFR2
6MP:00053897.7MLH3, PTEN, KRAS, CDH1, FGFR2
7MP:00020067.4FGFR2, PTEN, MUTYH, MSH3, MSH6, KRAS
8MP:00053847.4PTEN, MUTYH, MSH3, MSH6, KRAS, CDH1
9MP:00053767.4PTEN, MUTYH, MSH3, MSH6, KRAS, CDH1
10MP:00107687.3PTEN, MUTYH, MSH3, MSH6, KRAS, CDH1

Publications for Endometrial Cancer, Familial

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Variations for Endometrial Cancer, Familial

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UniProtKB/Swiss-Prot genetic disease variations for Endometrial Cancer, Familial:

63
id Symbol AA change Variation ID SNP ID
1PTENp.His123TyrVAR_026260

Clinvar genetic disease variations for Endometrial Cancer, Familial:

7 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1CDH1NM_004360.3(CDH1): c.2131C> G (p.Leu711Val)single nucleotide variantPathogenicrs121964871GRCh37Chr 16, 68857496: 68857496
2CDH1NM_004360.3(CDH1): c.1849G> A (p.Ala617Thr)single nucleotide variantPathogenicrs33935154GRCh37Chr 16, 68856041: 68856041
3KRASNM_033360.3(KRAS): c.34G> T (p.Gly12Cys)single nucleotide variantPathogenic, drug responsers121913530GRCh37Chr 12, 25398285: 25398285
4KRASNM_033360.3(KRAS): c.40G> A (p.Val14Ile)single nucleotide variantPathogenicrs104894365GRCh37Chr 12, 25398279: 25398279
5FGFR2NM_000141.4(FGFR2): c.755C> G (p.Ser252Trp)single nucleotide variantPathogenicrs79184941GRCh37Chr 10, 123279677: 123279677
6FGFR2NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys)single nucleotide variantPathogenicrs121913478GRCh37Chr 10, 123274794: 123274794
7MUTYHNM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys)single nucleotide variantPathogenicrs34612342GRCh37Chr 1, 45798475: 45798475
8MUTYHNM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp)single nucleotide variantPathogenicrs36053993GRCh37Chr 1, 45797228: 45797228
9MLH3NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe)single nucleotide variantPathogenicrs28756990GRCh37Chr 14, 75514138: 75514138
10MLH3MLH3, 1-BP DEL, 885GdeletionPathogenic
11PTENNM_000314.4(PTEN): c.253+1G> Asingle nucleotide variantPathogenicGRCh37Chr 10, 89690847: 89690847
12MSH3NM_002439.4(MSH3): c.1148delA (p.Lys383Argfs)deletionPathogenicGRCh38Chr 5, 80675103: 80675103

Expression for genes affiliated with Endometrial Cancer, Familial

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Expression patterns in normal tissues for genes affiliated with Endometrial Cancer, Familial

Search GEO for disease gene expression data for Endometrial Cancer, Familial.

Pathways for genes affiliated with Endometrial Cancer, Familial

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Pathways related to Endometrial Cancer, Familial according to GeneCards/GeneDecks:

(show all 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7FGFR2, KRAS
2
Show member pathways
9.7FGFR2, KRAS
3
Show member pathways
9.7FGFR2, KRAS
49.7MSH6, MSH3
59.6FGFR2, CDH1
69.6FGFR2, CDH1
79.5KRAS, CDH1
8
Show member pathways
9.2FGFR2, CDH1, KRAS
99.2CDH1, MSH6, MSH3
10
Show member pathways
9.1PTEN, KRAS, FGFR2
119.1PTEN, KRAS, FGFR2
129.1PTEN, KRAS, FGFR2
13
Show member pathways
9.1FGFR2, KRAS, PTEN
14
Show member pathways
9.1FGFR2, KRAS, PTEN
15
Show member pathways
9.1FGFR2, KRAS, PTEN
16
Show member pathways
8.9MSH6, MSH3, MLH3
178.6PTEN, MSH6, KRAS, CDH1
18
Show member pathways
8.5PTEN, KRAS, CDH1, FGFR2
19
Show member pathways
Signaling Pathways in Glioblastoma37
8.2FGFR2, CDH1, KRAS, MSH6, PTEN
20
Show member pathways
Signal transduction PTEN pathway59
8.1PTEN, MSH3, MSH6, KRAS, CDH1
217.7FGFR2, CDH1, KRAS, MSH6, MSH3, PTEN

Compounds for genes affiliated with Endometrial Cancer, Familial

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Compounds related to Endometrial Cancer, Familial according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
1regorafenib50 1211.0FGFR2, KRAS
2panitumumab44 50 1211.8KRAS, PTEN
3nickel44 2510.8FGFR2, CDH1
4streptavidin449.7FGFR2, PTEN
5cetuximab44 50 1211.7PTEN, KRAS
6o6-methylguanine449.6MSH6, KRAS, CDH1
7irinotecan44 50 1211.5CDH1, KRAS
8deoxyribonucleic acid449.5FGFR2, PTEN
9mononucleotide449.5MSH6, MSH3, PTEN
10indole-3-carbinol449.4CDH1, PTEN
11trastuzumab44 50 1211.4FGFR2, PTEN
12cyclophosphamide44 50 1211.3PTEN, MUTYH, FGFR2
13erlotinib44 50 1211.3PTEN, KRAS, CDH1
145-aza-2deoxycytidine449.3FGFR2, CDH1, PTEN
15gefitinib44 50 1211.3PTEN, KRAS, CDH1
16agar449.3PTEN, CDH1, FGFR2
17phosphotyrosine449.3FGFR2, CDH1, PTEN
18tamoxifen44 50 29 1212.3PTEN, CDH1, FGFR2
19pd 98,059449.2FGFR2, CDH1, PTEN
20ly294002449.1PTEN, KRAS, CDH1
21wortmannin449.1CDH1, KRAS, PTEN
22hematoxylin449.0CDH1, PTEN
23genistein44 29 60 3 25 1214.0PTEN, CDH1, FGFR2
24crcs449.0PTEN, MSH6, KRAS, CDH1
255fluorouracil449.0FGFR2, CDH1, KRAS, PTEN
26vitamin d448.9FGFR2, CDH1, KRAS, PTEN
27paclitaxel44 50 1210.9PTEN, KRAS, CDH1, FGFR2
28rapamycin448.9FGFR2, CDH1, KRAS, PTEN
29h2o2448.9FGFR2, KRAS, MUTYH, PTEN
30vegf448.9PTEN, KRAS, CDH1, FGFR2
31phosphatidylinositol448.9FGFR2, CDH1, KRAS, PTEN
32oxygen44 259.8FGFR2, KRAS, MUTYH, PTEN
33estrogen448.8PTEN, KRAS, CDH1, FGFR2
34retinoic acid44 259.8FGFR2, CDH1, KRAS, PTEN
35paraffin448.6PTEN, MSH6, KRAS, CDH1, FGFR2
36doxorubicin44 50 1210.6FGFR2, CDH1, MSH6, MSH3, PTEN
37serine448.6PTEN, MSH6, KRAS, CDH1, FGFR2
38tyrosine448.6FGFR2, CDH1, KRAS, MSH6, PTEN
39cisplatin44 50 60 1210.6FGFR2, CDH1, KRAS, MSH6, MSH3, MUTYH

GO Terms for genes affiliated with Endometrial Cancer, Familial

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Cellular components related to Endometrial Cancer, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nuclear chromosomeGO:0002289.6MSH6, MSH3
2Schmidt-Lanterman incisureGO:0432209.3CDH1, PTEN
3cytoplasmic side of plasma membraneGO:0098989.0CDH1, PTEN
4nucleusGO:0056347.3PTEN, MUTYH, MSH3, MSH6, FGFR2, MLH3

Biological processes related to Endometrial Cancer, Familial according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:00071010.0MSH3, MSH6
2somatic recombination of immunoglobulin gene segmentsGO:0164479.9MSH6, MSH3
3maintenance of DNA repeat elementsGO:0435709.9MSH6, MSH3
4positive regulation of helicase activityGO:0510969.9MSH3, MSH6
5negative regulation of DNA recombinationGO:0459109.9MSH6, MSH3
6social behaviorGO:0351769.3PTEN, KRAS
7negative regulation of epithelial cell proliferationGO:0506809.3FGFR2, CDH1, PTEN
8fibroblast growth factor receptor signaling pathwayGO:0085439.2FGFR2, KRAS, PTEN
9Fc-epsilon receptor signaling pathwayGO:0380959.2PTEN, KRAS, FGFR2
10epidermal growth factor receptor signaling pathwayGO:0071739.2FGFR2, KRAS, PTEN
11DNA repairGO:0062819.2MSH6, MSH3, MUTYH
12reciprocal meiotic recombinationGO:0071319.2MLH3, MSH3, MSH6
13neurotrophin TRK receptor signaling pathwayGO:0480119.1PTEN, KRAS, FGFR2
14positive regulation of cell proliferationGO:0082849.1FGFR2, KRAS, PTEN
15ATP catabolic processGO:0062009.1MLH3, MSH3, MSH6
16synapse assemblyGO:0074169.0CDH1, PTEN
17mismatch repairGO:0062988.6MSH6, MSH3, MUTYH, MLH3

Molecular functions related to Endometrial Cancer, Familial according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1single guanine insertion bindingGO:0321429.9MSH6, MSH3
2oxidized purine DNA bindingGO:0323579.9MSH6, MSH3
3guanine/thymine mispair bindingGO:0321379.8MSH3, MSH6
4MutLalpha complex bindingGO:0324059.7MSH6, MUTYH
5DNA-dependent ATPase activityGO:0080949.6MSH3, MSH6
6centromeric DNA bindingGO:0192379.3MSH3, MLH3
7MutSalpha complex bindingGO:0324079.1MUTYH, MLH3
8mismatched DNA bindingGO:0309839.1MSH6, MSH3, MLH3
9single-stranded DNA bindingGO:0036978.9MSH3, MLH3
10ATP bindingGO:0055248.5FGFR2, MSH6, MSH3, MLH3
11protein bindingGO:0055156.6MLH3, PTEN, MUTYH, MSH3, MSH6, KRAS

Products for genes affiliated with Endometrial Cancer, Familial

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Sources for Endometrial Cancer, Familial

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet