ENDMC
MCID: END057
MIFTS: 74

Endometrial Cancer (ENDMC)

Categories: Cancer diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Endometrial Cancer

MalaCards integrated aliases for Endometrial Cancer:

Name: Endometrial Cancer 57 12 74 37 13 55 6 15
Endometrial Carcinoma 12 29 55 6 15 17 72
Endometrial Neoplasm 12 29 6 17
Malignant Neoplasm of Endometrium 12 72
Carcinoma, Endometrioid 44 72
Endometrioid Carcinoma 12 17
Endometrial Neoplasms 44 72
Endometrioid Carcinoma of Female Reproductive System 12
Primary Malignant Neoplasm of Endometrium 12
Endometrial Cancer, Susceptibility to 57
Endometrial Carcinoma, Somatic 57
Malignant Endometrial Neoplasm 12
Endometrial Cancer, Familial 57
Carcinoma of the Endometrium 12
Neoplasm of Endometrium 12
Carcinoma Endometrioid 55
Uterine Corpus Cancer 72
Tumor of Endometrium 12
Cancer, Endometrial 40
Endometrial Ca 12
Endmc 74

Characteristics:

HPO:

32
endometrial cancer:
Inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:1380 DOID:2871
OMIM 57 608089
KEGG 37 H00026
SNOMED-CT 68 30289006 93781006
ICD10 33 C54.1
MedGen 42 C0476089
UMLS 72 C0007103 C0014170 C0206687 more

Summaries for Endometrial Cancer

KEGG : 37
Endometrial cancer (EC) is the most common gynaecological malignancy and the fourth most common malignancy in women in the developed world after breast, colorectal and lung cancer. Two types of endometrial carcinoma are distinguished with respect to biology and clinical course. Type-I carcinoma is related to hyperestrogenism by association with endometrial hyperplasia, frequent expression of estrogen and progesterone receptors and younger age, whereas type-II carcinoma is unrelated to estrogen, associated with atrophic endometrium, frequent lack of estrogen and progesterone receptors and older age. The morphologic differences in these cancers are mirrored in their molecular genetic profile with type I showing defects in DNA-mismatch repair and mutations in PTEN, K-ras, and beta-catenin, and type II showing aneuploidy, p53 mutations, and her2/neu amplification.

MalaCards based summary : Endometrial Cancer, also known as endometrial carcinoma, is related to lynch syndrome and endometrial adenocarcinoma. An important gene associated with Endometrial Cancer is MSH6 (MutS Homolog 6), and among its related pathways/superpathways are Endometrial cancer and Gastric cancer. The drugs Medroxyprogesterone acetate and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include breast, lymph node and uterus, and related phenotypes are endometrial carcinoma and Decreased viability

Disease Ontology : 12 A uterine cancer that is located in tissues lining the uterus.

UniProtKB/Swiss-Prot : 74 Endometrial cancer: A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids.

Wikipedia : 75 Endometrial cancer is a cancer that arises from the endometrium (the lining of the uterus or womb). It... more...

More information from OMIM: 608089

Related Diseases for Endometrial Cancer

Diseases related to Endometrial Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 669)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome 34.2 MUTYH MSH6 MSH3 MLH3 KRAS CTNNB1
2 endometrial adenocarcinoma 33.3 PTEN KRAS FGFR2 CTNNB1
3 adenocarcinoma 33.1 PTEN KRAS FGFR2 CTNNB1 CDH1
4 carcinosarcoma 32.8 PTEN KRAS CTNNB1
5 cervical cancer 32.2 PTEN HOTAIR GAS5 CTNNB1 CDH1
6 uterine carcinosarcoma 32.2 PTEN FGFR2 CTNNB1 CDH1
7 uterine anomalies 32.2 PTEN MSH6 CTNNB1 CDH1
8 ovarian cancer 32.0 PTEN MSH6 MIR200C LINC-ROR KRAS HOTAIR
9 familial adenomatous polyposis 32.0 MUTYH MSH6 MSH3 KRAS CTNNB1 CDH1
10 breast cancer 31.8 PTENP1 PTEN MSH6 MIR200C LINC-ROR KRAS
11 adenoid cystic carcinoma 31.6 PTEN KRAS CTNNB1 CDH1
12 mismatch repair cancer syndrome 31.5 PTEN MSH6 CTNNB1
13 colorectal adenocarcinoma 31.4 MSH6 KRAS CTNNB1 CDH1
14 prostate cancer 31.4 PTENP1 PTEN KRAS HOTAIR GAS5 FGFR2
15 colon adenocarcinoma 31.4 MSH6 KRAS CTNNB1 CDH1
16 lung squamous cell carcinoma 31.3 PTEN KRAS FGFR2 CDH1
17 colorectal cancer 31.3 TUSC7 PTENP1 PTEN MUTYH MSH6 MSH3
18 glioma 31.2 PTEN HOTAIR GAS5 CASC2
19 gallbladder cancer 31.2 LINC-ROR KRAS HOTAIR CDH1
20 pancreatic cancer 31.1 LINC-ROR KRAS HOTAIR GAS5 CTNNB1 CDH1
21 lung cancer susceptibility 3 31.1 LINC-ROR KRAS HOTAIR GAS5 CTNNB1 CDH1
22 colorectal adenoma 31.1 MUTYH KRAS CTNNB1
23 glioblastoma 31.0 TUSC7 PTEN HOTAIR GAS5 FGFR2
24 renal cell carcinoma, nonpapillary 31.0 PTENP1 MIR200C LINC-ROR HOTAIR GAS5 CDH1
25 squamous cell carcinoma 31.0 TUSC7 PTEN HOTAIR FGFR2 CTNNB1 CDH1
26 mutyh-associated polyposis 30.9 MUTYH KRAS
27 esophageal cancer 30.9 PTEN LINC-ROR KRAS HOTAIR GAS5 CTNNB1
28 kidney cancer 30.9 MIR200C HOTAIR GAS5
29 attenuated familial adenomatous polyposis 30.9 MUTYH MSH6
30 osteogenic sarcoma 30.8 TUSC7 HOTAIR GAS5 CASC2
31 hepatocellular carcinoma 30.8 TUSC7 PTENP1 PTEN LINC-ROR KRAS HOTAIR
32 female reproductive endometrioid cancer 30.8 PTEN CTNNB1
33 malignant glioma 30.7 TUSC7 HOTAIR GAS5 CASC2
34 lung cancer 30.7 TUSC7 PTEN MIR200C LINC-ROR KRAS HOTAIR
35 melanoma 30.5 PTEN MIR200C LINC-ROR HOTAIR GAS5
36 gastric cancer 30.2 TUSC7 PTENP1 PTEN MUTYH MIR200C LINC-ROR
37 ovarian endometrial cancer 12.4
38 polycystic ovary syndrome 11.7
39 endometrial adenosquamous carcinoma 11.6
40 endometrial transitional cell carcinoma 11.6
41 polycystic ovary syndrome 1 11.5
42 colorectal cancer, hereditary nonpolyposis, type 5 11.5
43 high-grade neuroendocrine carcinoma of the corpus uteri 11.4
44 cervical endometrioid adenocarcinoma 11.3
45 fallopian tube endometrioid adenocarcinoma 11.3
46 colonic disease 11.2 MSH6 KRAS CTNNB1 CDH1
47 female reproductive system disease 11.2 PTEN MSH6 CTNNB1 CDH1
48 respiratory system cancer 11.2 PTEN KRAS CTNNB1 CDH1
49 lynch syndrome i 11.2
50 precocious puberty, central, 1 11.2

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



Diseases related to Endometrial Cancer

Symptoms & Phenotypes for Endometrial Cancer

Human phenotypes related to Endometrial Cancer:

32
# Description HPO Frequency HPO Source Accession
1 endometrial carcinoma 32 HP:0012114

Clinical features from OMIM:

608089

GenomeRNAi Phenotypes related to Endometrial Cancer according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.55 KRAS
2 Decreased viability GR00106-A-0 9.55 KRAS
3 Decreased viability GR00221-A-1 9.55 CDH1 KRAS
4 Decreased viability GR00221-A-2 9.55 KRAS
5 Decreased viability GR00301-A 9.55 CDH1 FGFR2 KRAS MLH3
6 Decreased viability GR00342-S-1 9.55 FGFR2
7 Decreased viability GR00342-S-2 9.55 FGFR2
8 Decreased viability GR00342-S-3 9.55 FGFR2
9 Decreased viability GR00381-A-1 9.55 KRAS
10 Decreased viability GR00402-S-2 9.55 CDH1 FGFR2 KRAS MLH3

MGI Mouse Phenotypes related to Endometrial Cancer:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.23 CDH1 CTNNB1 FGFR2 KRAS MSH3 MSH6

Drugs & Therapeutics for Endometrial Cancer

Drugs for Endometrial Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 408)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Medroxyprogesterone acetate Approved, Investigational Phase 4 71-58-9
2
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
3
Histamine Approved, Investigational Phase 4 51-45-6 774
4
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
5
Polyestradiol phosphate Approved Phase 4 28014-46-2
6
Tibolone Approved, Investigational Phase 4 5630-53-5
7
Drospirenone Approved Phase 4 67392-87-4 68873
8
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
9
Ziprasidone Approved Phase 4 146939-27-7 60854
10
Aripiprazole Approved, Investigational Phase 4 129722-12-9 60795
11 Estrogens Phase 4
12 Hormones Phase 4
13 Hormone Antagonists Phase 4
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
15 Selective Estrogen Receptor Modulators Phase 4
16 Estrogen Receptor Modulators Phase 4
17 Contraceptive Agents, Male Phase 4
18
Medroxyprogesterone Phase 4 520-85-4 10631
19 Progestins Phase 4
20 Neurotransmitter Agents Phase 4
21 Central Nervous System Depressants Phase 4
22
Histamine Phosphate Phase 4 51-74-1 65513
23 Estradiol 17 beta-cypionate Phase 4
24 Estradiol 3-benzoate Phase 4
25 Serotonin Antagonists Phase 4
26 Serotonin Agents Phase 4
27 Antihypertensive Agents Phase 4
28 Androgens Phase 4
29 Diuretics, Potassium Sparing Phase 4
30 Mineralocorticoid Receptor Antagonists Phase 4
31 diuretics Phase 4
32 Natriuretic Agents Phase 4
33 Mineralocorticoids Phase 4
34 Anabolic Agents Phase 4
35 Androgen Antagonists Phase 4
36 Serotonin Receptor Agonists Phase 4
37 Dopamine Agents Phase 4
38 Tranquilizing Agents Phase 4
39 Serotonin 5-HT2 Receptor Antagonists Phase 4
40 Antidepressive Agents Phase 4
41 Serotonin 5-HT1 Receptor Agonists Phase 4
42 Adrenergic Agents Phase 4
43 Antipsychotic Agents Phase 4
44 Psychotropic Drugs Phase 4
45 Dopamine Antagonists Phase 4
46 Dopamine agonists Phase 4
47 Dopamine D2 Receptor Antagonists Phase 4
48 Fluorodeoxyglucose F18 Phase 4
49
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
50
Methylene blue Approved, Investigational Phase 3 61-73-4

Interventional clinical trials:

(show top 50) (show all 885)
# Name Status NCT ID Phase Drugs
1 Upper Vaginectomy Versus Brachytherapy in Patients With Early Stage Endometrial Cancer Treated With Laparoscopic Surgery: a Randomized Controlled Study. Unknown status NCT00719017 Phase 4
2 Influence of Gum Chewing on Postoperative Bowel Activity After Complete Staging Surgery for Gynecological Malignancies Unknown status NCT01835119 Phase 4 gum
3 Continuation of Treatment and Monitoring of Safety in Patients Treated With LY353381 for Advanced Cancer Completed NCT00190697 Phase 4 arzoxifene
4 Does Intraoperative Application of TachoSil Reduce the Number of Lymphocele After Pelvic Lymphadenectomy? Completed NCT03752606 Phase 4
5 Comparative Effects of Drospirenone and Tibolone on the Postmenopausal Endometrium Completed NCT02384408 Phase 4
6 A Multicenter Study Comparing Mirena and Systemic Progestin for Endometrial Hyperplasia Completed NCT01074892 Phase 4 Provera (medroxyprogesterone/progestin);Provera (medroxyprogesterone)
7 Effects of Tibolone Treatment on the Endometrium Completed NCT00294463 Phase 4 Tibolone;Estradiol;Estradiol + Medroxy Progesterone Acetate
8 Randomized Controlled Trial of The Safety and Efficacy of Aripiprazole VS Ziprasidone in Schizophrenic Patients With Metabolic Syndrome and Diabetes Mellitus. Completed NCT01714011 Phase 4 Ziprasidone;Aripiprazole
9 Biomarker Guided Treatment in Gynaecological Cancer Recruiting NCT02543710 Phase 4 Biomarker guided weekly taxane treatment in endometrial/ ovarian cancer
10 Pilot Study to Assess the Potential Clinical Utility of 18F Fluciclovine PET for Cervical and Endometrial Cancer Compared With 18F FDG PET Recruiting NCT03423082 Phase 4 18F fluciclovine
11 Evaluation of Fluciclovine Uptake in Patients With Cervical, Ovarian Epithelial or Endometrial Cancers. Pilot Study. Recruiting NCT03349463 Phase 4 Fluciclovine F18
12 Pharmacokinetics and Safety of Transdermal Megestrol Acetate Withdrawn NCT00163072 Phase 4 transdermal Megace
13 Role Of Uterine Manipulator in Hysterectomy for Early Stage Endometrial Cancer Unknown status NCT02762214 Phase 3
14 Randomized Double-Blind Controlled Phase III Trial of Hyperbaric Oxygen Therapy in Patients Suffering Long-Term Adverse Effects of Radiotherapy for Pelvic Cancer (HOT II) Unknown status NCT01087268 Phase 3
15 A Double-blind Placebo-controlled Trial of Dietary Supplementation With 15g/Day FOS for Five Weeks in Patients With Endometrial/Cervical Carcinoma or 7.5 Weeks in Patients With Prostate Carcinoma Undergoing Pelvic Radiotherapy. Unknown status NCT01414517 Phase 3
16 Oral Micronized Progesterone for Perimenopausal Vasomotor Symptoms Unknown status NCT01464697 Phase 3 Oral micronized progesterone;placebo
17 Effects of the Concentrated Extract of Soy on Coagulation Factors After Menopause Unknown status NCT00925639 Phase 3 Isoflavone;Placebo
18 Assessment of the Impact of Preoperative Stress Reduction on Psychological, Physiological and Immunological Parameters in Women With Gynecological Malignancies - Prospective Randomized Controlled Trial Unknown status NCT00726635 Phase 3
19 Phase 3 Study Investigating the Effect of Endobarrier Treatment on Fertility in Women With Polycystic Ovary Syndrome Unknown status NCT02255578 Phase 3 clomiphene citrate treatment
20 A Phase III Study of Adjuvant Postoperative Irradiation With or Without Cisplatin/Taxol Chemotherapy Following TAH/BSO for Patients With Endometrial Cancer Completed NCT00006027 Phase 3 cisplatin;paclitaxel
21 A Phase III Randomized Trial Comparing TAH BSO Versus TAH BSO Plus Adjuvant Pelvic Irradiation in Intermediate Risk Carcinoma of the Endometrium Completed NCT00002807 Phase 3
22 A Randomized Phase III Study of Tumor Volume Directed Pelvic Plus or Minus Para-Aortic Irradiation Followed by Cisplatin and Doxorubicin or Cisplatin, Doxorubicin and Paclitaxel for Advanced Endometrial Carcinoma Completed NCT00006011 Phase 3 Doxorubicin Hydrochloride;Cisplatin;Paclitaxel
23 Indocyanine Green Versus Blue Dye for Detection of Sentinel Lymph Node In Endometrial Cancer Completed NCT02564276 Phase 3
24 A Randomised Trial of Lymphadenectomy and of Adjuvant External Beam Radiotherapy in the Treatment of Endometrial Cancer Completed NCT00003749 Phase 3
25 Randomized Controlled Study Comparing AEZS-108 With Doxorubicin as Second Line Therapy for Locally Advanced, Recurrent or Metastatic Endometrial Cancer. Completed NCT01767155 Phase 3 AEZS-108 / zoptarelin doxorubicin;doxorubicin
26 WHOLE ABDOMINAL RADIOTHERAPY VERSUS CIRCADIAN-TIMED COMBINATION DOXORUBICIN-CISPLATIN CHEMOTHERAPY IN ADVANCED ENDOMETRIAL CARCINOMA -- PHASE III Completed NCT00002493 Phase 3 cisplatin;doxorubicin hydrochloride
27 A Randomized Study of Doxorubicin Plus Cisplatin Versus Doxorubicin Plus Cisplatin Plus 3-Hour Paclitaxel With G-CSF Support in Patients With Primary Stage III & IV or Recurrent Endometrial Carcinoma Completed NCT00003691 Phase 3 cisplatin;doxorubicin hydrochloride;paclitaxel
28 PORTEC-2, Postoperative Radiation Therapy for Endometrial Carcinoma - A Multicenter Randomised Phase III Trial Comparing External Beam Radiation and Vaginal Brachytherapy Completed NCT00376844 Phase 3
29 A Randomized Trial of Adjuvant Treatment With Radiation Plus Chemotherapy Versus Radiation Alone in High Risk Endometrial Carcinoma Completed NCT00005583 Phase 3 cisplatin;doxorubicin hydrochloride;epirubicin hydrochloride
30 A Double-Blind Randomized Trial of Pyridoxine Versus Placebo for the Prevention of Doxil-Related Palmar-Plantar Erythrodysesthesia (Hand-Foot Syndrome) Completed NCT00245050 Phase 3 Placebo;doxorubicin HCL liposome
31 LACE - Laparoscopic Approach to Cancer of the Endometrium: An International Multicenter Randomized Phase 3 Clinical Trial Completed NCT00096408 Phase 3
32 A Randomized Phase III Trial for Evaluation of Usefulness of Pelvic Drains After Radical Hysterectomy and Node Dissection (RHND) Completed NCT00003267 Phase 3
33 A Phase III Trial of Carboplatin and Paclitaxel Plus Placebo Versus Carboplatin and Paclitaxel Plus Concurrent Bevacizumab (NSC # 704865) Followed by Placebo, Versus Carboplatin and Paclitaxel Plus Concurrent and Extended Bevacizumab, in Women With Newly Diagnosed, Previously Untreated, Stage III or IV Epithelial Ovarian, Primary Peritoneal or Fallopian Tube Cancer Completed NCT00262847 Phase 3 Carboplatin;Paclitaxel
34 Phase III Randomized Study of Adjuvant Pelvic Radiotherapy Versus Observation Alone in Patients With Completely Resected, Stage I or II, High-Grade Uterine Sarcoma Completed NCT00002459 Phase 3
35 A Randomized Comparison Of Medroxyprogesterone Acetate (MA) And Observation For Prevention Of Endometrial Pathology In Postmenopausal Breast Cancer Patients Treated With Tamoxifen, Phase III Completed NCT00002920 Phase 3 medroxyprogesterone;tamoxifen citrate
36 METASTASECTOMY AND CHEMOTHERAPY FOR LUNG METASTASES FROM SOFT TISSUE SARCOMA: A RANDOMIZED PHASE III STUDY (AN INTERGROUP STUDY WITH THE SCANDINAVIAN SARCOMA GROUP) Completed NCT00002764 Phase 3 doxorubicin hydrochloride;ifosfamide
37 A Collagen-Fibrin Patch (Tachosil®) for the Prevention of Symptomatic Lymphoceles After Pelvic Lymphadenectomy in Women With Gynecologic Malignancies: a Randomized Clinical Trial Completed NCT01470677 Phase 3 Tachosil fibrin patch
38 RANDOMISED TRIAL OF ADJUVANT CHEMOTHERAPY WITH HIGH-DOSE DOXORUBICIN, IFOSFAMIDE AND LENOGRASTIM IN HIGH GRADE SOFT TISSUE SARCOMA Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
39 Vaginal DHEA for Vaginal Symptoms: A Phase III Randomized, Double Blind, Placebo- Controlled Trial Completed NCT01376349 Phase 3 prasterone
40 A Phase III Randomized Clinical Trial of Laparoscopic Pelvic and Para-Aortic Node Sampling With Vaginal Hysterectomy and BSO Versus Open Laparotomy With Pelvic and Para-Aortic Node Sampling and Abdominal Hysterectomy and BSO in Endometrial Adenocarcinoma and Uterine Sarcoma, Clinical Stage I, IIA, Grade I, II, III Completed NCT00002706 Phase 3
41 Study to Evaluate the Therapeutic Equivalence of Estradiol Vaginal Cream, 0.01% to Estrace® Estradiol Vaginal Cream 0.01% in Atrophic Vaginitis Completed NCT03294538 Phase 3 Estrace® Cream;Generic Estradiol Cream;Vehicle Cream
42 Operational Hysteroscopy Versus Traditional Surgery: Costs and Health Benefits Completed NCT00490087 Phase 3
43 Phase III Double-Blind Study Of Depot Octreotide Versus Placebo In The Prevention Of Acute Diarrhea In Patients Receiving Pelvic Radiation Therapy Completed NCT00033605 Phase 3 octreotide acetate
44 Study of Tamoxifen and Raloxifene (STAR) for the Prevention of Breast Cancer Completed NCT00003906 Phase 3 Raloxifene;Tamoxifen
45 A Clinical Trial to Evaluate the Benefit of Adding Octreotide (SMS 201-995 PA LAR) to Tamoxifen Alone or to Tamoxifen and Chemotherapy in Patients With Axillary Node-Negative, Estrogen-Receptor-Positive, Primary Invasive Breast Cancer Completed NCT00002967 Phase 3 cyclophosphamide;doxorubicin hydrochloride;octreotide pamoate;tamoxifen citrate
46 A Randomized, Double-blind, Placebo-controlled Multi-center Study to Evaluate the Safety and Efficacy of Fentanyl Sublingual Spray (Fentanyl SL Spray) for the Treatment of Breakthrough Cancer Pain Completed NCT00538850 Phase 3 Fentanyl sublingual spray;Placebo
47 Phase III Randomised Clinical Trial for Stage III Ovarian Carcinoma Randomising Between Secondary Debulking Surgery With or Without Hyperthermic Intraperitoneal Chemotherapy Completed NCT00426257 Phase 3
48 Efficacy of a Fibrin Sealant (Tissucol Duo®) for the Prevention of Lymphocele After Laparoscopic Pelvic Lymphadenectomy Due to Gynaecological Cancer: a Randomised Controlled Trial Completed NCT03914963 Phase 3
49 Women's Health Initiative (WHI) Completed NCT00000611 Phase 3 hormone replacement therapy;estrogens;progestins;estrogen replacement therapy;calcium;vitamin D
50 Short Course Adjuvant Vaginal Cuff Brachytherapy (VCB) in Early Endometrial Cancer Compared to Standard of Care (SAVE) Recruiting NCT03422198 Phase 3

Search NIH Clinical Center for Endometrial Cancer

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Carboplatin
Cyclophosphamide
Leuprolide
Leuprolide Acetate
Levonorgestrel
Medroxyprogesterone
medroxyprogesterone acetate
Megestrol
Megestrol Acetate
Tamoxifen

Cochrane evidence based reviews: endometrial neoplasms

Genetic Tests for Endometrial Cancer

Genetic tests related to Endometrial Cancer:

# Genetic test Affiliating Genes
1 Endometrial Carcinoma 29 CDH1 MLH3 MSH3 MSH6
2 Endometrial Neoplasm 29

Anatomical Context for Endometrial Cancer

MalaCards organs/tissues related to Endometrial Cancer:

41
Breast, Lymph Node, Uterus, Ovary, Testes, Cervix, Bone

The Foundational Model of Anatomy Ontology organs/tissues related to Endometrial Cancer:

19
Tissues Lining The Uterus

Publications for Endometrial Cancer

Articles related to Endometrial Cancer:

(show top 50) (show all 21329)
# Title Authors PMID Year
1
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes. 9 38 8 71
17525745 2007
2
Germline mutation prevalence in the base excision repair gene, MYH, in patients with endometrial cancer. 38 8 71
17956577 2007
3
Drug-sensitive FGFR2 mutations in endometrial carcinoma. 9 38 8
18552176 2008
4
MLH1 promoter methylation and gene silencing is the primary cause of microsatellite instability in sporadic endometrial cancers. 9 38 8
10072435 1999
5
Mutation of MSH3 in endometrial cancer and evidence for its functional role in heteroduplex repair. 9 38 71
8782829 1996
6
Endometrial cancer: a review and current management strategies: part I. 38 71
24905773 2014
7
Integrated genomic characterization of endometrial carcinoma. 38 8
23636398 2013
8
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes. 38 8
23104009 2012
9
Mitochondrial DNA variant 16189T>C is associated with susceptibility to endometrial cancer. 38 8
12872259 2003
10
Mapping an endometrial cancer tumor suppressor gene at 10q25 and development of a bacterial clone contig for the consensus deletion interval. 38 71
9740666 1998
11
Deletion mapping on chromosome 10q25-q26 in human endometrial cancer. 38 71
8980400 1996
12
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 71
27476653 2016
13
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 71
24493721 2014
14
First large rearrangement in the MUTYH gene and attenuated familial adenomatous polyposis syndrome. 71
21815886 2011
15
MLH3 and EXO1 alterations in familial colorectal cancer patients not fulfilling Amsterdam criteria. 71
17656264 2007
16
Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. 71
16440883 2005
17
Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. 71
12900900 2003
18
The role of hMLH3 in familial colorectal cancer. 71
12702580 2003
19
Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands. 71
12588804 2003
20
Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. 71
12606733 2003
21
Abnormal spliceform expression associated with splice acceptor mutations in exon IIIc of FGFR2. 71
12124745 2002
22
Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome. 71
12000365 2002
23
Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors. 71
11818965 2002
24
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. 71
11390973 2001
25
A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations. 8
11418155 2001
26
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. 71
9719378 1998
27
A common mitochondrial DNA variant is associated with insulin resistance in adult life. 8
9498630 1998
28
PTEN1 is frequently mutated in primary endometrial carcinomas. 71
9326929 1997
29
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 71
8696350 1996
30
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. 71
8651276 1996
31
Allelic loss of sequences from the long arm of chromosome 10 and replication errors in endometrial cancers. 71
7728760 1995
32
Mutations of the E-cadherin gene in human gynecologic cancers. 71
8075649 1994
33
Circulating free DNA, p53 antibody and mutations of KRAS gene in endometrial cancer. 9 38
19960433 2010
34
Differential sensitivity of human endometrial carcinoma cells with different PTEN expression to mitogen-activated protein kinase signaling inhibits and implications for therapy. 9 38
20087603 2010
35
Steroid receptors, HER2/neu and Ki-67, in endometrioid type of endometrial carcinoma: Correlation with conventional histomorphological features of prognosis. 9 38
19446313 2010
36
5-Aza-2'-deoxycytidine is a potent inhibitor of DNA methyltransferase 3B and induces apoptosis in human endometrial cancer cell lines with the up-regulation of hMLH1. 9 38
19306077 2010
37
Immunohistochemical detection of histone deacetylases in endometrial carcinoma: involvement of histone deacetylase 2 in the proliferation of endometrial carcinoma cells. 9 38
20178884 2010
38
IMP3 distinguishes uterine serous carcinoma from endometrial endometrioid adenocarcinoma. 9 38
20472848 2010
39
Prognostic value of microsatellite instability (MSI) and PTEN expression in women with endometrial cancer: results from studies of the NCIC Clinical Trials Group (NCIC CTG). 9 38
20304627 2010
40
Mismatch repair status and outcomes after adjuvant therapy in patients with surgically staged endometrial cancer. 9 38
20153885 2010
41
Common genetic variation in the sex hormone metabolic pathway and endometrial cancer risk: pathway-based evaluation of candidate genes. 9 38
20053928 2010
42
High density of peritumoral lymphatic vessels is a potential prognostic marker of endometrial carcinoma: a clinical immunohistochemical method study. 9 38
20374665 2010
43
The universal overexpression of a cancer testis antigen hiwi is associated with cancer angiogenesis. 9 38
20204292 2010
44
FGFR2 mutations are rare across histologic subtypes of ovarian cancer. 9 38
20106510 2010
45
Polymorphism of the ERalpha and CYP1B1 genes in endometrial cancer in a Polish subpopulation. 9 38
20492382 2010
46
Genome-wide single-nucleotide polymorphism arrays in endometrial carcinomas associate extensive chromosomal instability with poor prognosis and unveil frequent chromosomal imbalances involved in the PI3-kinase pathway. 9 38
20062086 2010
47
Expression of Efp, VEGF and bFGF in normal, hyperplastic and malignant endometrial tissue. 9 38
20127022 2010
48
Loss of inhibitory insulin receptor substrate-1 phosphorylation is an early event in mammalian target of rapamycin-dependent endometrial hyperplasia and carcinoma. 9 38
20179297 2010
49
The multikinase inhibitor Sorafenib induces apoptosis and sensitises endometrial cancer cells to TRAIL by different mechanisms. 9 38
20071162 2010
50
Matrix metalloproteinase-7 (MMP-7) polymorphism is a risk factor for endometrial cancer susceptibility. 9 38
20113256 2010

Variations for Endometrial Cancer

ClinVar genetic disease variations for Endometrial Cancer:

6 (show top 50) (show all 90)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PTEN NM_000314.7(PTEN): c.388C> G (p.Arg130Gly) single nucleotide variant Pathogenic rs121909224 10:89692904-89692904 10:87933147-87933147
2 MSH6 NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter) single nucleotide variant Pathogenic rs63749843 2:48030588-48030588 2:47803449-47803449
3 MUTYH NM_001128425.1(MUTYH): c.536A> G (p.Tyr179Cys) single nucleotide variant Pathogenic rs34612342 1:45798475-45798475 1:45332803-45332803
4 MLH3 NM_001040108.1(MLH3): c.885del (p.His296fs) deletion Pathogenic 14:75515474-75515474 14:75048771-75048771
5 MSH3 NM_002439.5(MSH3): c.1148del (p.Lys383fs) deletion Pathogenic rs587776701 5:79970922-79970922 5:80675103-80675103
6 KRAS NM_004985.5(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 12:25398279-25398279 12:25245345-25245345
7 MSH6 NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs63751017 2:48027853-48027853 2:47800714-47800714
8 MSH6 NM_000179.2(MSH6): c.3103C> T (p.Arg1035Ter) single nucleotide variant Pathogenic rs63749999 2:48028225-48028225 2:47801086-47801086
9 FGFR2 NM_000141.4(FGFR2): c.1124A> G (p.Tyr375Cys) single nucleotide variant Pathogenic rs121913478 10:123274794-123274794 10:121515280-121515280
10 FGFR2 NM_000141.4(FGFR2): c.755C> G (p.Ser252Trp) single nucleotide variant Pathogenic rs79184941 10:123279677-123279677 10:121520163-121520163
11 CDH1 NM_004360.5(CDH1): c.1147C> T (p.Gln383Ter) single nucleotide variant Pathogenic rs587782798 16:68847225-68847225 16:68813322-68813322
12 CDH1 NM_004360.5(CDH1): c.220C> T (p.Arg74Ter) single nucleotide variant Pathogenic rs876658932 16:68835629-68835629 16:68801726-68801726
13 PTEN NM_000314.7(PTEN): c.1012del (p.Ser338fs) deletion Pathogenic 10:89720858-89720858 10:87961101-87961101
14 FGFR2 NM_000141.4(FGFR2): c.1115C> G (p.Ser372Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913477 10:123274803-123274803 10:121515289-121515289
15 CTNNB1 NM_001904.4(CTNNB1): c.98C> A (p.Ser33Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121913400 3:41266101-41266101 3:41224610-41224610
16 KRAS NM_004985.5(KRAS): c.34G> T (p.Gly12Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121913530 12:25398285-25398285 12:25245351-25245351
17 PTEN NM_000314.7(PTEN): c.253+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs587776667 10:89690847-89690847 10:87931090-87931090
18 MUTYH NM_001128425.1(MUTYH): c.1187G> A (p.Gly396Asp) single nucleotide variant Pathogenic/Likely pathogenic rs36053993 1:45797228-45797228 1:45331556-45331556
19 MSH6 NM_000179.2(MSH6): c.10C> T (p.Gln4Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201042 2:48010382-48010382 2:47783243-47783243
20 subset of 54 genes:SPAST inv(2)(p21p23.2) inversion Likely pathogenic 2:29447680-42554394 :0-0
21 CTNNB1 NM_001904.4(CTNNB1): c.94G> A (p.Asp32Asn) single nucleotide variant Likely pathogenic rs28931588 3:41266097-41266097 3:41224606-41224606
22 CTNNB1 NM_001904.4(CTNNB1): c.95A> T (p.Asp32Val) single nucleotide variant Likely pathogenic rs121913396 3:41266098-41266098 3:41224607-41224607
23 FGFR2 NM_000141.4(FGFR2): c.1914T> A (p.Asn638Lys) single nucleotide variant Likely pathogenic rs1057519854 10:123247577-123247577 10:121488063-121488063
24 FGFR2 NM_000141.4(FGFR2): c.1141T> C (p.Tyr381His) single nucleotide variant Likely pathogenic rs387906678 10:123274777-123274777 10:121515263-121515263
25 FGFR2 NM_000141.4(FGFR2): c.929A> G (p.Lys310Arg) single nucleotide variant Likely pathogenic rs121913475 10:123279503-123279503 10:121519989-121519989
26 PIK3CA NM_006218.4(PIK3CA): c.3074C> G (p.Thr1025Ser) single nucleotide variant Likely pathogenic rs1553826166 3:178952019-178952019 3:179234231-179234231
27 FGFR3 ; TACC3 NC_000004.11: g.1737488_1808653dup duplication Likely pathogenic 4:1737488-1808653 4:1735761-1806926
28 FGFR2 NM_000141.4(FGFR2): c.1642A> C (p.Ile548Leu) single nucleotide variant Likely pathogenic rs1057519901 10:123258039-123258039 10:121498525-121498525
29 FGFR2 NM_000141.4(FGFR2): c.1121A> G (p.Asp374Gly) single nucleotide variant Likely pathogenic rs1057520028 10:123274797-123274797 10:121515283-121515283
30 FGFR2 NM_000141.4(FGFR2): c.1974A> T (p.Lys658Asn) single nucleotide variant Likely pathogenic rs1057520029 10:123247517-123247517 10:121488003-121488003
31 FGFR2 NM_000141.4(FGFR2): c.1972A> G (p.Lys658Glu) single nucleotide variant Likely pathogenic rs1057520027 10:123247519-123247519 10:121488005-121488005
32 MSH6 NM_000179.2(MSH6): c.3801+1G> T single nucleotide variant Likely pathogenic rs876660943 2:48033498-48033498 2:47806359-47806359
33 MSH6 NM_000179.2(MSH6): c.187T> C (p.Ser63Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs763702846 2:48010559-48010559 2:47783420-47783420
34 MSH6 NM_000179.2(MSH6): c.1063G> A (p.Gly355Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587778531 2:48026185-48026185 2:47799046-47799046
35 CDH1 NM_004360.5(CDH1): c.2474C> T (p.Pro825Leu) single nucleotide variant Uncertain significance rs587781312 16:68867227-68867227 16:68833324-68833324
36 MSH6 NM_000179.2(MSH6): c.1814C> G (p.Thr605Ser) single nucleotide variant Uncertain significance rs587781616 2:48026936-48026936 2:47799797-47799797
37 MSH6 NM_000179.2(MSH6): c.3244C> T (p.Pro1082Ser) single nucleotide variant Uncertain significance rs186240214 2:48030630-48030630 2:47803491-47803491
38 MSH6 NM_000179.2(MSH6): c.3557G> A (p.Gly1186Asp) single nucleotide variant Uncertain significance rs587781690 2:48032757-48032757 2:47805618-47805618
39 CDH1 NM_004360.5(CDH1): c.2131C> G (p.Leu711Val) single nucleotide variant Uncertain significance rs121964871 16:68857496-68857496 16:68823593-68823593
40 CDH1 NM_004360.5(CDH1): c.1843A> G (p.Ile615Val) single nucleotide variant Uncertain significance rs1003012321 16:68856035-68856035 16:68822132-68822132
41 CDH1 NM_004360.5(CDH1): c.2398C> T (p.Arg800Cys) single nucleotide variant Uncertain significance rs587782162 16:68863659-68863659 16:68829756-68829756
42 MSH6 NM_000179.2(MSH6): c.3014G> A (p.Arg1005Gln) single nucleotide variant Uncertain significance rs587782324 2:48028136-48028136 2:47800997-47800997
43 MSH6 NM_000179.2(MSH6): c.622A> G (p.Met208Val) single nucleotide variant Uncertain significance rs369058374 2:48023197-48023197 2:47796058-47796058
44 MSH6 NM_000179.2(MSH6): c.2959A> G (p.Thr987Ala) single nucleotide variant Uncertain significance rs746631156 2:48028081-48028081 2:47800942-47800942
45 CDH1 NM_004360.5(CDH1): c.377C> T (p.Pro126Leu) single nucleotide variant Uncertain significance rs746703615 16:68835786-68835786 16:68801883-68801883
46 CDH1 NM_004360.5(CDH1): c.1171G> A (p.Val391Ile) single nucleotide variant Uncertain significance rs556110297 16:68847249-68847249 16:68813346-68813346
47 CDH1 NM_004360.5(CDH1): c.1250A> G (p.Asn417Ser) single nucleotide variant Uncertain significance rs773441320 16:68847328-68847328 16:68813425-68813425
48 CDH1 NM_004360.5(CDH1): c.1774G> T (p.Ala592Ser) single nucleotide variant Uncertain significance rs35187787 16:68855966-68855966 16:68822063-68822063
49 MSH6 NM_000179.2(MSH6): c.136G> C (p.Gly46Arg) single nucleotide variant Uncertain significance rs863224616 2:48010508-48010508 2:47783369-47783369
50 CDH1 NM_004360.5(CDH1): c.2595G> C (p.Trp865Cys) single nucleotide variant Uncertain significance rs778019174 16:68867348-68867348 16:68833445-68833445

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

74
# Symbol AA change Variation ID SNP ID
1 PTEN p.His123Tyr VAR_026260 rs786204931

Cosmic variations for Endometrial Cancer:

9 (show top 50) (show all 18675)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM6935601 ZRSR2 endometrium,NS,carcinoma,endometrioid carcinoma c.1124G>T p.S375I 23:15822917-15822917 24
2 COSM6982868 ZRSR2 endometrium,NS,carcinoma,endometrioid carcinoma c.854C>A p.S285Y 23:15820233-15820233 24
3 COSM6935600 ZRSR2 endometrium,NS,carcinoma,endometrioid carcinoma c.514T>A p.C172S 23:15809275-15809275 24
4 COSM6845183 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.2143C>T p.R715* 16:72958003-72958003 24
5 COSM6845146 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.8961G>T p.K2987N 16:72793721-72793721 24
6 COSM6845174 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.4129C>A p.L1377I 16:72798553-72798553 24
7 COSM973503 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.8152G>A p.A2718T 16:72794530-72794530 24
8 COSM6845142 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.3504G>T p.E1168D 16:72829804-72829804 24
9 COSM6845190 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.9555A>C p.Q3185H 16:72788721-72788721 24
10 COSM1709385 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.3925C>T p.R1309* 16:72800069-72800069 24
11 COSM6845133 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.2740G>A p.D914N 16:72950945-72950945 24
12 COSM6845164 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.7666G>C p.A2556P 16:72795016-72795016 24
13 COSM6845182 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.3628C>T p.R1210* 16:72811940-72811940 24
14 COSM6845156 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.2875G>A p.D959N 16:72950810-72950810 24
15 COSM973493 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.9001G>T p.E3001* 16:72793681-72793681 24
16 COSM6826430 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.8002C>T p.R2668* 16:72794680-72794680 24
17 COSM6845155 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.2725G>A p.G909S 16:72950960-72950960 24
18 COSM1233352 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.6446G>A p.R2149H 16:72796236-72796236 24
19 COSM6826396 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.568G>A p.V190M 16:72959578-72959578 24
20 COSM6845159 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.3829G>A p.V1277M 16:72811612-72811612 24
21 COSM5563443 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.6820C>T p.Q2274* 16:72795862-72795862 24
22 COSM6845186 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.9266A>C p.E3089A 16:72793416-72793416 24
23 COSM6984593 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.6046G>A p.E2016K 16:72796636-72796636 24
24 COSM973492 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.9006G>T p.K3002N 16:72793676-72793676 24
25 COSM6984595 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.5623G>A p.E1875K 16:72797059-72797059 24
26 COSM973535 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.4316G>A p.R1439Q 16:72798366-72798366 24
27 COSM6845141 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.1969G>A p.G657S 16:72958177-72958177 24
28 COSM6845171 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.3115C>T p.H1039Y 16:72950570-72950570 24
29 COSM6845173 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.3863C>T p.T1288M 16:72811578-72811578 24
30 COSM6982810 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.4103A>G p.N1368S 16:72798579-72798579 24
31 COSM1640552 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.8849G>A p.R2950H 16:72793833-72793833 24
32 COSM6982809 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.4406C>T p.A1469V 16:72798276-72798276 24
33 COSM6984596 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.1378G>A p.E460K 16:72958768-72958768 24
34 COSM6845169 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.5125G>T p.E1709* 16:72797557-72797557 24
35 COSM6845189 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.8228A>G p.Y2743C 16:72794454-72794454 24
36 COSM1379731 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.884G>A p.R295H 16:72959262-72959262 24
37 COSM3276890 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.3397G>A p.E1133K 16:72889782-72889782 24
38 COSM3276999 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.359G>A p.G120E 16:72959787-72959787 24
39 COSM6845185 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.5635A>T p.K1879* 16:72797047-72797047 24
40 COSM6845129 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.7559T>C p.L2520P 16:72795123-72795123 24
41 COSM6845179 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.8576C>T p.T2859M 16:72794106-72794106 24
42 COSM973560 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.1115G>A p.R372Q 16:72959031-72959031 24
43 COSM6845161 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.5754G>T p.K1918N 16:72796928-72796928 24
44 COSM6845178 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.8197C>A p.R2733S 16:72794485-72794485 24
45 COSM6845165 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.8078G>A p.R2693Q 16:72794604-72794604 24
46 COSM6845188 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.6058A>G p.K2020E 16:72796624-72796624 24
47 COSM6984594 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.5941G>A p.E1981K 16:72796741-72796741 24
48 COSM6845127 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.4274T>C p.I1425T 16:72798408-72798408 24
49 COSM973483 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.10750G>A p.A3584T 16:72787526-72787526 24
50 COSM6845170 ZFHX3 endometrium,NS,carcinoma,endometrioid carcinoma c.338C>T p.A113V 16:72959808-72959808 24

Copy number variations for Endometrial Cancer from CNVD:

7 (show top 50) (show all 66)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 14799 1 110230418 110236367 Duplication GSTM1 Endometrial cancer
2 16430 1 124300000 247249719 Gain Endometrial cancer
3 16431 1 124300000 247249719 Gain Endometrial cancer
4 16443 1 124300000 247249719 Gain or loss Endometrial cancer
5 30005 1 23900000 28000000 Copy number STMN1 Endometrial cancer
6 38170 10 1 40300000 Gain Endometrial cancer
7 38173 10 1 40300000 Gain or loss Endometrial cancer
8 42809 10 40300000 135374737 Gain Endometrial cancer
9 42810 10 40300000 135374737 Gain or loss Endometrial cancer
10 47133 10 89613174 89718512 Copy number PTEN Endometrial cancer
11 47161 10 89623194 89728531 Loss PTEN Endometrial cancer
12 48495 11 1 52900000 Gain or loss Endometrial cancer
13 55432 11 52900000 134452384 Gain or loss Endometrial cancer
14 61536 12 1 35400000 Gain or loss Endometrial cancer
15 66123 12 25358179 25403863 Amplification KRAS Endometrial cancer
16 75150 13 16000000 114142980 Gain or loss Endometrial cancer
17 82814 14 15600000 106368585 Gain or loss Endometrial cancer
18 89241 15 17000000 100338915 Gain or loss Endometrial cancer
19 97274 16 1 38200000 Gain Endometrial cancer
20 97276 16 1 38200000 Gain or loss Endometrial cancer
21 101463 16 38200000 88827254 Gain or loss Endometrial cancer
22 106793 17 1 22200000 Gain or loss Endometrial cancer
23 108760 17 22200000 78774742 Gain or loss Endometrial cancer
24 119170 18 1 16100000 Gain or loss Endometrial cancer
25 119734 18 16100000 76117153 Gain or loss Endometrial cancer
26 124098 19 1 28500000 Gain or loss Endometrial cancer
27 127175 19 28500000 63811651 Gain or loss Endometrial cancer
28 134355 2 1 93300000 Gain or loss Endometrial cancer
29 146256 2 47483766 47760012 Rearrangement MSH2 Endometrial cancer
30 149784 2 93300000 242951149 Gain or loss Endometrial cancer
31 150416 20 1 27100000 Gain or loss Endometrial cancer
32 151944 20 27100000 62435964 Gain Endometrial cancer
33 151953 20 27100000 62435964 Gain or loss Endometrial cancer
34 157114 21 12300000 46944323 Gain or loss Endometrial cancer
35 160291 22 11800000 49691432 Gain or loss Endometrial cancer
36 163141 22 24376139 24384284 Duplication GSTT1 Endometrial cancer
37 166155 3 1 91700000 Gain or loss Endometrial cancer
38 172027 3 175700000 179000000 Amplification PIK3CA Endometrial cancer
39 175016 3 37009982 37067341 Rearrangement MLH1 Endometrial cancer
40 179466 3 91700000 199501827 Gain or loss Endometrial cancer
41 179984 4 1 50700000 Gain or loss Endometrial cancer
42 187532 4 50700000 191273063 Gain or loss Endometrial cancer
43 200012 5 47700000 180857866 Gain or loss Endometrial cancer
44 203699 6 1 60500000 Gain or loss Endometrial cancer
45 214470 6 60500000 170899992 Gain or loss Endometrial cancer
46 217117 7 1 59100000 Gain or loss Endometrial cancer
47 226563 7 59100000 158821424 Gain or loss Endometrial cancer
48 230833 8 1 45200000 Gain or loss Endometrial cancer
49 240068 8 45200000 146274826 Gain Endometrial cancer
50 240080 8 45200000 146274826 Gain or loss Endometrial cancer

Expression for Endometrial Cancer

Search GEO for disease gene expression data for Endometrial Cancer.

Pathways for Endometrial Cancer

Pathways related to Endometrial Cancer according to KEGG:

37
# Name Kegg Source Accession
1 Endometrial cancer hsa05213

Pathways related to Endometrial Cancer according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.44 PTEN MSH6 MSH3 KRAS FGFR2 CTNNB1
2
Show member pathways
12.43 PTEN KRAS FGFR2 CTNNB1 CDH1
3
Show member pathways
12.4 PTEN MSH6 KRAS FGFR2 CDH1
4 11.89 PTEN MSH6 MSH3 KRAS FGFR2 CTNNB1
5 11.87 MSH6 MSH3 KRAS CTNNB1 CDH1
6 11.76 PTEN KRAS CTNNB1
7 11.73 PTEN KRAS CTNNB1
8 11.68 FGFR2 CTNNB1 CDH1
9
Show member pathways
11.63 MSH6 MSH3 MLH3
10 11.54 PTEN MSH6 KRAS CTNNB1 CDH1
11 11.34 PTEN KRAS FGFR2
12 10.57 CTNNB1 CDH1
13 10.51 LINC-ROR HOTAIR

GO Terms for Endometrial Cancer

Cellular components related to Endometrial Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 flotillin complex GO:0016600 8.96 CTNNB1 CDH1
2 mismatch repair complex GO:0032300 8.8 MSH6 MSH3 MLH3

Biological processes related to Endometrial Cancer according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of endothelial cell differentiation GO:0045603 9.55 MIR200C CTNNB1
2 negative regulation of DNA recombination GO:0045910 9.54 MSH6 MSH3
3 epithelial tube branching involved in lung morphogenesis GO:0060441 9.52 KRAS CTNNB1
4 regulation of synaptic transmission, GABAergic GO:0032228 9.51 PTEN KRAS
5 regulation of osteoblast differentiation GO:0045667 9.49 FGFR2 CTNNB1
6 morphogenesis of embryonic epithelium GO:0016331 9.48 FGFR2 CTNNB1
7 positive regulation of helicase activity GO:0051096 9.46 MSH6 MSH3
8 lung-associated mesenchyme development GO:0060484 9.43 FGFR2 CTNNB1
9 entry of bacterium into host cell GO:0035635 9.4 CTNNB1 CDH1
10 maintenance of DNA repeat elements GO:0043570 9.32 MSH6 MSH3
11 cellular response to indole-3-methanol GO:0071681 9.26 CTNNB1 CDH1
12 meiotic mismatch repair GO:0000710 9.16 MSH6 MSH3
13 replication fork arrest GO:0043111 9.07 MSH3
14 mesenchymal cell proliferation involved in lung development GO:0060916 8.96 FGFR2 CTNNB1
15 mismatch repair GO:0006298 8.92 MUTYH MSH6 MSH3 MLH3

Molecular functions related to Endometrial Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MutLalpha complex binding GO:0032405 9.4 MUTYH MSH6
2 guanine/thymine mispair binding GO:0032137 9.32 MSH6 MSH3
3 single guanine insertion binding GO:0032142 9.16 MSH6 MSH3
4 mismatched DNA binding GO:0030983 9.13 MSH6 MSH3 MLH3
5 centromeric DNA binding GO:0019237 9.07 MLH3
6 single thymine insertion binding GO:0032143 8.96 MSH6
7 oxidized purine DNA binding GO:0032357 8.8 MUTYH MSH6 MSH3

Sources for Endometrial Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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