MCID: END056
MIFTS: 19

Endometrial Cancer, Familial malady

Genetic diseases, Cancer diseases, Rare diseases, Reproductive diseases categories
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Summaries for Endometrial Cancer, Familial

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47OMIM, 33MalaCards
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MalaCards: Endometrial Cancer, Familial is related to turcot syndrome and familial colorectal cancer. An important gene associated with Endometrial Cancer, Familial is MSH6 (mutS homolog 6), and among its related pathways are Pathways in cancer and Glioma. The compounds mononucleotide and crcs have been mentioned in the context of this disorder. Related mouse phenotype tumorigenesis.

Description from OMIM:47 608089

Aliases & Classifications for Endometrial Cancer, Familial

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47OMIM
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Classifications:



Aliases & Descriptions:

endometrial cancer, familial 47


Related Diseases for Endometrial Cancer, Familial

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17GeneCards, 18GeneDecks
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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 12)
idRelated DiseaseScoreTop Affiliating Genes
1turcot syndrome10.0MSH6, PTEN
2familial colorectal cancer10.0MSH6, PTEN
3endometrial carcinoma10.0PTEN, MSH6
4brain cancer10.0MSH6, PTEN
5stomach cancer10.0PTEN, MSH6
6breast cancer10.0MSH6, PTEN
7malignant glioma10.0MSH6, PTEN
8ovarian cancer10.0PTEN, MSH6
9colon cancer10.0MSH6, PTEN
10prostate cancer10.0MSH6, PTEN
11colorectal cancer10.0MSH6, PTEN
12adenocarcinoma9.9PTEN, MSH6

Graphical network of diseases related to Endometrial Cancer, Familial:



Diseases related to endometrial cancer, familial

Symptoms for Endometrial Cancer, Familial

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47OMIM
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Clinical features from OMIM:

608089

Drugs & Therapeutics for Endometrial Cancer, Familial

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Endometrial Cancer, Familial

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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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37MGI
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MGI Mouse Phenotypes related to Endometrial Cancer, Familial:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1MSH6, PTEN

Publications for Endometrial Cancer, Familial

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Variations for Endometrial Cancer, Familial

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Endometrial Cancer, Familial:

64
id Symbol AA change Variation ID SNP ID
1PTENp.His123TyrVAR_026260

Clinvar genetic disease variations for Endometrial Cancer, Familial:

1 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1CDH1NM_004360.3(CDH1): c.2131C> G (p.Leu711Val)single nucleotide variantPathogenic, Uncertain significancers121964871GRCh37Chr 16, 68857496: 68857496
2CDH1NM_004360.3(CDH1): c.1849G> A (p.Ala617Thr)single nucleotide variantBenign, Pathogenicrs33935154GRCh37Chr 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Endometrial Cancer, Familial

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Pathways for genes affiliated with Endometrial Cancer, Familial

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Sources:
50PathCards, 30KEGG, 38NCBI BioSystems Database, 60Thomson Reuters
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Pathways related to Endometrial Cancer, Familial according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1MSH6, PTEN
2
Show member pathways
Signaling Pathways in Glioblastoma38
9.1MSH6, PTEN
39.1PTEN, MSH6
4
Show member pathways
Signal transduction PTEN pathway60
9.1MSH6, PTEN
5
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
9.1MSH6, PTEN

Compounds for genes affiliated with Endometrial Cancer, Familial

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Sources:
45Novoseek, 51PharmGKB, 11DrugBank, 61Tocris Bioscience
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Compounds related to Endometrial Cancer, Familial according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mononucleotide459.2MSH6, PTEN
2crcs459.2MSH6, PTEN
3doxorubicin45 51 1111.1MSH6, PTEN
4threonine459.1MSH6, PTEN
5paraffin459.0PTEN, MSH6
6cisplatin45 51 61 1111.8MSH6, PTEN

GO Terms for genes affiliated with Endometrial Cancer, Familial

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16Gene Ontology
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Molecular functions related to Endometrial Cancer, Familial according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1magnesium ion bindingGO:0002879.1MSH6, PTEN

Products for genes affiliated with Endometrial Cancer, Familial

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Endometrial Cancer, Familial

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet