MCID: END056
MIFTS: 19

Endometrial Cancer, Familial malady

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

Summaries for Endometrial Cancer, Familial

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48OMIM, 34MalaCards
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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:48 608089

Aliases & Classifications for Endometrial Cancer, Familial

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48OMIM
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Classifications:



Aliases & Descriptions:

endometrial cancer, familial 48


Related Diseases for Endometrial Cancer, Familial

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

608089

Drugs & Therapeutics for Endometrial Cancer, Familial

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Endometrial Cancer, Familial

Drug clinical trials:

Search ClinicalTrials for Endometrial Cancer, Familial

Search NIH Clinical Center 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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38MGI
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MGI Mouse Phenotypes related to Endometrial Cancer, Familial:

38
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:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Endometrial Cancer, Familial:

65
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, 16Gene 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:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 61Thomson 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 Glioblastoma39
9.1MSH6, PTEN
39.1PTEN, MSH6
4
Show member pathways
Signal transduction PTEN pathway61
9.1MSH6, PTEN
5
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
9.1MSH6, PTEN

Compounds for genes affiliated with Endometrial Cancer, Familial

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Sources:
46Novoseek, 52PharmGKB, 12DrugBank, 62Tocris Bioscience
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Compounds related to Endometrial Cancer, Familial according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mononucleotide469.2MSH6, PTEN
2crcs469.2MSH6, PTEN
3doxorubicin46 52 1211.1MSH6, PTEN
4threonine469.1MSH6, PTEN
5paraffin469.0PTEN, MSH6
6cisplatin46 52 62 1211.8MSH6, PTEN

GO Terms for genes affiliated with Endometrial Cancer, Familial

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet