MMRCS
MCID: MSM014
MIFTS: 63

Mismatch Repair Cancer Syndrome (MMRCS)

Categories: Blood diseases, Cancer diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mismatch Repair Cancer Syndrome

MalaCards integrated aliases for Mismatch Repair Cancer Syndrome:

Name: Mismatch Repair Cancer Syndrome 57 53 75 13
Turcot Syndrome 57 76 53 75 29 55 6 73
Mismatch Repair Deficiency 57 53 75 37
Constitutional Mismatch Repair Deficiency Syndrome 57 59 75
Mmr Deficiency 57 53 75
Mmrcs 57 53 75
Brain Tumor-Polyposis Syndrome 1 57 75
Childhood Cancer Syndrome 57 75
Btp1 Syndrome 57 75
Cmmrds 57 75
Btps1 57 75
Malignant Tumors of the Central Nervous System Associated with Familial Polyposis of the Colon 53
Constitutional Mismatch Repair Deficiency Syndrome; Cmmrds 57
Cns Tumors with Familial Polyposis of the Colon 53
Brain Tumor-Polyposis Syndrome 1; Btps1 57
Cancer Syndrome, Mismatch Repair 40
Brain Tumor-Polyposis Syndrome 53
Malignant Childhood Neoplasm 73
Glioma-Polyposis Syndrome 53
Childhood Cancer 55
Cmmr-D Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
constitutional mismatch repair deficiency syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset of hematologic or cns tumors in the first or second decades of life
onset of gastrointestinal tumors typically occurs in the second decade
other tumors may also occur


HPO:

32
mismatch repair cancer syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mismatch Repair Cancer Syndrome

OMIM : 57 Constitutional mismatch repair deficiency is a rare childhood cancer predisposition syndrome with 4 main tumor types: hematologic malignancies, brain/central nervous system tumors, colorectal tumors and multiple intestinal polyps, and other malignancies including embryonic tumors and rhabdomyosarcoma. Many patients show signs reminiscent of neurofibromatosis type I (NF1; 162200), particularly multiple cafe-au-lait macules (summary by Baas et al., 2013). 'Turcot syndrome' classically refers to the combination of colorectal polyposis and primary tumors of the central nervous system (Hamilton et al., 1995). Trimbath et al. (2001) and Ostergaard et al. (2005) noted that the original definition of Turcot syndrome may be too restrictive, and suggested that the full manifestation of biallelic mutations in MMR genes includes the additional findings of early-onset hematologic malignancies and cafe-au-lait spots suggestive of neurofibromatosis type I. Several authors have observed 2 main groups of so-called 'Turcot syndrome.' Itoh and Ohsato (1985) noted that the colonic lesions seen in Turcot's original cases were characterized by autosomal recessive inheritance and multiple colonic polyps (up to 100), some of which exceeded 3 cm in diameter; the polyps frequently showed malignant transformation in the second and third decades of life. A distinct group of patients showed autosomal dominant inheritance of multiple small colonic polyps similar to classic FAP; the CNS tumor in these patients appeared to be an additional chance occurrence. Due to the similar phenotypes, FAP patients with brain tumors have sometimes been referred to in the past as having 'Turcot syndrome' (see, e.g., Lewis et al., 1983 and Lasser et al., 1994). Mastronardi et al. (1991) and Dupuis and Verellen-Dumoulin (1995) also identified 2 distinct syndromes comprising polyposis and CNS tumors. One shows autosomal recessive inheritance of polyps and gliomas, with CNS tumors as a primary feature; this group includes the original kindred of Turcot et al. (1959). The other group shows autosomal dominant FAP with CNS tumors, usually medulloblastomas, as an extracolonic manifestation. The colonic polyps in Turcot syndrome occur earlier, are less numerous and larger, and undergo malignant transformation earlier compared to those in FAP. Paraf et al. (1997) also proposed that Turcot syndrome, which they referred to as the 'brain tumor-polyposis (BTP) syndrome,' could be classified into 2 distinct entities. Patients with BTP syndrome type 1 have early onset of malignant gliomas and colorectal adenomas without polyposis; these are non-FAP cases. Neoplasms from these patients show DNA replication errors consistent with mutations in DNA mismatch repair genes. In contrast, BTP syndrome type 2 includes patients in FAP kindreds who develop CNS tumors. These patients have germline APC mutations which predispose to brain tumors. Risk analysis showed an increased incidence of medulloblastoma in FAP patients. By contrast, APC mutations were not found in sporadic glioma or medulloblastoma. Wimmer and Etzler (2008) provided a review of the mismatch cancer repair syndrome and suggested that the prevalence may be underestimated. (276300)

MalaCards based summary : Mismatch Repair Cancer Syndrome, also known as turcot syndrome, is related to familial adenomatous polyposis 1 and colorectal adenocarcinoma. An important gene associated with Mismatch Repair Cancer Syndrome is PMS2 (PMS1 Homolog 2, Mismatch Repair System Component), and among its related pathways/superpathways are Mismatch repair and Colorectal cancer. The drugs Elliotts B Solution and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include brain, colon and skin, and related phenotypes are agenesis of corpus callosum and lymphoma

NIH Rare Diseases : 53 Turcot syndrome is a condition characterized by multiple adenomatous colon polyps, an increased risk of colorectal cancer, and an increased risk of brain cancer. It may be associated with familial adenomatous polyposis (FAP) or Lynch syndrome (also known as hereditary non-polyposis colorectal cancer or HNPCC). The molecular basis of most Turcot syndrome is either a mutation in APC associated with FAP or a mutation in one of the mismatch repair genes associated with Lynch syndrome (MLH1 and PMS2). The brain tumors in individuals with APC mutations are typically medulloblastoma, whereas those with mismatch repair mutations are usually glioblastoma multiforme. Turcot syndrome typically follows an autosomal dominant inheritance pattern.

UniProtKB/Swiss-Prot : 75 Mismatch repair cancer syndrome: An autosomal recessive, rare, childhood cancer predisposition syndrome encompassing a broad tumor spectrum. This includes hematological malignancies, central nervous system tumors, Lynch syndrome-associated malignancies such as colorectal tumors as well as multiple intestinal polyps, embryonic tumors and rhabdomyosarcoma. Multiple cafe-au-lait macules, a feature reminiscent of neurofibromatosis type 1, are often found as first manifestation of the underlying cancer. Areas of skin hypopigmentation have also been reported in MMRCS patients.

Wikipedia : 76 Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch... more...

Related Diseases for Mismatch Repair Cancer Syndrome

Diseases related to Mismatch Repair Cancer Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 1 32.3 APC CTNNB1
2 colorectal adenocarcinoma 30.0 CTNNB1 MLH1 MSH2 MSH6
3 familial adenomatous polyposis 30.0 APC CTNNB1 MLH1 MSH2 MSH6
4 familial colorectal cancer 29.8 APC MLH1 MSH2
5 adenocarcinoma 29.7 APC CTNNB1 MLH1 PTEN
6 endometrial cancer 29.6 CTNNB1 MLH1 MSH2 MSH6 PMS2 PTEN
7 gastric cancer 29.6 APC CTNNB1 MLH1 MSH2 PTEN
8 colorectal cancer 29.6 APC CTNNB1 MLH1 MSH2 MSH6 PMS1
9 endometrial adenocarcinoma 29.6 CTNNB1 MLH1 PTEN
10 adenoma 29.5 APC CTNNB1 MLH1 MSH2
11 muir-torre syndrome 29.4 MLH1 MSH2 MSH6 PMS1 PMS2
12 cholangiocarcinoma 29.4 APC CTNNB1 PTEN
13 rhabdomyosarcoma 29.4 MSH2 MSH6 MYCN PAX3 PMS2
14 ovarian cancer 29.4 CTNNB1 MLH1 MSH2 MSH6 PMS1 PTEN
15 lynch syndrome 29.2 APC CTNNB1 MLH1 MSH2 MSH6 PMS1
16 colorectal adenoma 29.1 APC CTNNB1 MLH1 MSH2
17 sebaceous adenocarcinoma 29.0 MLH1 MSH2 MSH6 PMS1 PMS2
18 medulloblastoma 28.8 APC CTNNB1 MYCN PAX3 PTEN
19 brain cancer 28.6 CTNNB1 MSH2 MSH6 MYCN PMS2 PTEN
20 retinoblastoma 11.7
21 glioma susceptibility 1 11.3
22 neurofibromatosis, type i 11.3
23 neuroblastoma 11.1
24 li-fraumeni syndrome 11.1
25 brain tumor, childhood 11.1
26 beckwith-wiedemann syndrome 10.9
27 adrenal carcinoma 10.9
28 spindle cell intraocular melanoma 10.2 MLH1 PMS2
29 colorectal cancer 5 10.2 MLH1 MSH6
30 colorectal cancer, hereditary nonpolyposis, type 7 10.2 MLH1 MSH2
31 lower lip cancer 10.2 MLH1 MSH2
32 anal fistula 10.2 MLH1 MSH2
33 gastric leiomyoma 10.1 MLH1 MSH6
34 polyposis syndrome, hereditary mixed, 1 10.1 APC MLH1
35 leukemia, acute lymphoblastic 10.1
36 lymphocytic leukemia 10.1
37 anal squamous cell carcinoma 10.1 APC MLH1
38 melanocytic nevus syndrome, congenital 10.1 MLH1 MSH2
39 pulmonary fibrosis, idiopathic 10.1
40 pulmonary fibrosis 10.1
41 atypical polypoid adenomyoma 10.1 CTNNB1 MLH1
42 adenomyoma 10.1 CTNNB1 MLH1
43 desmoid disease, hereditary 10.1 APC CTNNB1
44 colorectal cancer, hereditary nonpolyposis, type 4 10.1 MLH1 MSH2 PMS2
45 legius syndrome 10.1 MSH2 MSH6
46 acute lymphoblastic leukemia, childhood 10.1
47 skin benign neoplasm 10.1 MLH1 MSH2 MSH6
48 colorectal cancer, hereditary nonpolyposis, type 5 10.1 MLH1 MSH2 MSH6
49 desmoid tumor 10.1 APC CTNNB1
50 malignant glioma 10.0

Graphical network of the top 20 diseases related to Mismatch Repair Cancer Syndrome:



Diseases related to Mismatch Repair Cancer Syndrome

Symptoms & Phenotypes for Mismatch Repair Cancer Syndrome

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
lymphoma
astrocytoma
rhabdomyosarcoma
neuroblastoma
medulloblastoma
more
Neurologic Central Nervous System:
agenesis of the corpus callosum (in some patients)
gray matter heterotopia (in some patients)
intracerebral cysts (in some patients)

Skin Nails Hair Skin:
cafe-au-lait spots
axillary freckling
hyperpigmented spots

Abdomen Gastrointestinal:
adenomatous colonic polyps


Clinical features from OMIM:

276300

Human phenotypes related to Mismatch Repair Cancer Syndrome:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
2 lymphoma 32 HP:0002665
3 astrocytoma 32 HP:0009592
4 hypermelanotic macule 32 HP:0001034
5 rhabdomyosarcoma 32 HP:0002859
6 neuroblastoma 32 HP:0003006
7 cafe-au-lait spot 32 HP:0000957
8 medulloblastoma 32 HP:0002885
9 leukemia 32 HP:0001909
10 basal cell carcinoma 32 HP:0002671
11 ependymoma 32 HP:0002888
12 glioblastoma multiforme 32 HP:0012174
13 axillary freckling 32 HP:0000997
14 abnormality of abdomen morphology 32 HP:0001438

GenomeRNAi Phenotypes related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.03 CTNNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.03 CTNNB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.03 MLH1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.03 MLH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.03 APC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.03 MLH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.03 APC CTNNB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.03 APC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-195 10.03 MLH1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.03 CTNNB1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.03 APC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.03 APC
13 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.03 CTNNB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.03 APC CTNNB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.03 CTNNB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.03 CTNNB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.03 APC CTNNB1 MLH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.03 MLH1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.03 CTNNB1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.03 MLH1
21 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 MLH1 MSH2 MSH6 PMS1 PMS2

MGI Mouse Phenotypes related to Mismatch Repair Cancer Syndrome:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
2 hematopoietic system MP:0005397 10.19 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
3 homeostasis/metabolism MP:0005376 10.18 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
4 digestive/alimentary MP:0005381 10.16 APC CTNNB1 MLH1 MSH2 MYCN PAX3
5 immune system MP:0005387 10.11 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
6 mortality/aging MP:0010768 10.09 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
7 integument MP:0010771 10.04 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
8 endocrine/exocrine gland MP:0005379 10.02 APC CTNNB1 MLH1 PAX3 PMS2 PTEN
9 neoplasm MP:0002006 10.02 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
10 liver/biliary system MP:0005370 9.93 APC CTNNB1 MYCN PAX3 PMS2 PTEN
11 limbs/digits/tail MP:0005371 9.88 APC CTNNB1 MYCN PAX3 PTEN
12 muscle MP:0005369 9.8 APC CTNNB1 MYCN PAX3 PTEN
13 renal/urinary system MP:0005367 9.65 APC CTNNB1 MYCN PAX3 PTEN
14 reproductive system MP:0005389 9.63 APC CTNNB1 MLH1 MYCN PMS2 PTEN
15 pigmentation MP:0001186 9.62 APC CTNNB1 PAX3 PTEN
16 respiratory system MP:0005388 9.35 CTNNB1 MLH1 MYCN PAX3 PTEN
17 vision/eye MP:0005391 9.1 APC CTNNB1 MLH1 MYCN PAX3 PTEN

Drugs & Therapeutics for Mismatch Repair Cancer Syndrome

FDA approved drugs:

# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Elliotts B Solution 18 CALCIUM CHLORIDE; DEXTROSE; MAGNESIUM SULFATE; POTASSIUM CHLORIDE; SODIUM BICARBONATE; SODIUM CHLORIDE; SODIUM PHOSPHATE, DIBASIC, HEPTAHYDRATE Orphan Medical October 1996

Drugs for Mismatch Repair Cancer Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
2
Capecitabine Approved, Investigational Phase 3,Phase 2 154361-50-9 60953
3
Nicotine Approved Phase 3 54-11-5 942 89594
4
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
5
Atezolizumab Approved, Investigational Phase 3,Phase 2 1380723-44-3
6
Bevacizumab Approved, Investigational Phase 3,Phase 2 216974-75-3
7
leucovorin Approved Phase 3,Phase 2 58-05-9 6006 143
8
Oxaliplatin Approved, Investigational Phase 3,Phase 2 61825-94-3 43805 6857599 5310940 9887054
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
10 Antimetabolites Phase 3,Phase 2
11 Cola Phase 3
12 Antimetabolites, Antineoplastic Phase 3,Phase 2
13 Immunologic Factors Phase 3,Phase 1,Phase 2
14 Immunosuppressive Agents Phase 3,Phase 2
15 Bone Density Conservation Agents Phase 3
16 Immunoglobulin G Phase 3,Phase 1,Phase 2
17 Micronutrients Phase 3
18 Vitamin B9 Phase 3
19 Vitamins Phase 3
20 Antibodies, Monoclonal Phase 3,Phase 1,Phase 2
21 Antibodies Phase 3,Phase 1,Phase 2
22 Immunoglobulins Phase 3,Phase 1,Phase 2
23 Angiogenesis Inhibitors Phase 3,Phase 2
24 Endothelial Growth Factors Phase 3
25 Angiogenesis Modulating Agents Phase 3,Phase 2
26 Hematinics Phase 3
27 Mitogens Phase 3
28 Trace Elements Phase 3
29 Folate Phase 3
30 Protective Agents Phase 3
31 Calcium, Dietary Phase 3
32 Vitamin B Complex Phase 3
33 Antidotes Phase 3
34
Nivolumab Approved Phase 1, Phase 2,Phase 2 946414-94-4
35
Pancrelipase Approved, Investigational Phase 2 53608-75-6
36
Pembrolizumab Approved Phase 2,Phase 1 1374853-91-4
37
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
38
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
39
Osimertinib Approved Phase 2 1421373-65-0
40
Adenosine Approved, Investigational Phase 2 58-61-7 60961
41
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
42
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
43
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
44
Trametinib Approved Phase 2 871700-17-3 11707110
45
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
46
Racepinephrine Approved Phase 2 329-65-7 838
47
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
48
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5330286 5005498
49
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
50
Dacarbazine Approved, Investigational Phase 2 4342-03-4 5351166

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Randomised Study Evaluating Adjuvant Chemotherapy After Resection of Stage III Colonic Adenocarcinoma in Patients of 70 and Over Recruiting NCT02355379 Phase 3 LV5FU2 or capectitabine;FOLFOX4 or XELOX;LV5FU2 or capecitabine
2 Combination Chemotherapy, Bevacizumab, and/or Atezolizumab in Treating Patients With Deficient DNA Mismatch Repair Metastatic Colorectal Cancer Recruiting NCT02997228 Phase 3 Atezolizumab;Fluorouracil;Leucovorin Calcium;Oxaliplatin
3 Pilot Study of Nivolumab in Pediatric Patients With Hypermutant Cancers Recruiting NCT02992964 Phase 1, Phase 2 Nivolumab
4 Azacitidine and Pembrolizumab in Pancreatic Cancer Recruiting NCT03264404 Phase 2 Pembrolizumab;Azacitidine
5 Standard of Care Alone or in Combination With Ad-CEA Vaccine and Avelumab in People With Previously Untreated Metastatic Colorectal Cancer QUILT-2.004 Recruiting NCT03050814 Phase 2 Avelumab;Bevacizumab;5-FU;Leucovorin;Oxaliplatin;Capecitabine;5-FU
6 Study of RP1 Monotherapy and RP1 in Combination With Nivolumab Recruiting NCT03767348 Phase 1, Phase 2
7 Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma (The MATCH Screening Trial) Recruiting NCT02465060 Phase 2 Adavosertib;Afatinib;Binimetinib;Capivasertib;Crizotinib;Dabrafenib;Dasatinib;Defactinib;FGFR Inhibitor AZD4547;Larotrectinib;Osimertinib;Palbociclib;PI3K-beta Inhibitor GSK2636771;Sapanisertib;Sunitinib Malate;Taselisib;Trametinib;Vismodegib
8 Pembrolizumab in MMR-Proficient Metastatic Colorectal Cancer Pharmacologically Primed to Trigger Hypermutation Status Not yet recruiting NCT03519412 Phase 2 temozolomide (induction),
9 A Safety and Tolerability Study of INCAGN02390 in Select Advanced Malignancies Recruiting NCT03652077 Phase 1 INCAGN02390
10 CBT-501 Study for Select Advanced or Relapsed/Recurrent Solid Tumors Recruiting NCT03053466 Phase 1 CBT-501
11 Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, Hypermutated Brain Tumors, Ependymoma or Medulloblastoma Recruiting NCT02359565 Phase 1
12 SYNERGY-AI: Artificial Intelligence Based Precision Oncology Clinical Trial Matching and Registry Recruiting NCT03452774
13 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
14 Study of Changes and Characteristics of Genes in Patients With Pancreatic Cancer for Better Treatment Selection Recruiting NCT02750657
15 Phenotyping of Small Bowel Adenocarcinoma Active, not recruiting NCT02976090
16 Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care Enrolling by invitation NCT03460483 Not Applicable
17 Prevalence of Constitutional Mismatch-repair Deficiency Among Suspected Neurofibromatosis Type 1/Legius Syndrome Children Without a Malignancy and Without a NF1 or SPRED1 Mutation Not yet recruiting NCT03757247

Search NIH Clinical Center for Mismatch Repair Cancer Syndrome

Genetic Tests for Mismatch Repair Cancer Syndrome

Genetic tests related to Mismatch Repair Cancer Syndrome:

# Genetic test Affiliating Genes
1 Turcot Syndrome 29 MLH1 MSH2 MSH6 PMS2

Anatomical Context for Mismatch Repair Cancer Syndrome

MalaCards organs/tissues related to Mismatch Repair Cancer Syndrome:

41
Brain, Colon, Skin, Bone, Heart, Prostate, Myeloid

Publications for Mismatch Repair Cancer Syndrome

Articles related to Mismatch Repair Cancer Syndrome:

(show top 50) (show all 51)
# Title Authors Year
1
A Challenging Treatment Decision for a Rare Association: Case Report of Familial Turcot Syndrome With Fistulizing Crohn's Disease. ( 29670872 )
2018
2
Diplopia as presenting sign of Turcot syndrome. ( 27143045 )
2017
3
[Muir-Torre syndrome and Turcot syndrome]. ( 28256262 )
2017
4
Gastrointestinal stromal tumor in turcot syndrome. ( 25831251 )
2015
5
A potential life-saving diagnosis--recognizing Turcot syndrome. ( 24698620 )
2014
6
A Novel APC Gene Mutation Associated With a Severe Phenotype in a Patient With Turcot Syndrome. ( 24309598 )
2013
7
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. ( 23483711 )
2013
8
[Turcot syndrome. Rare observation and literature review]. ( 23866578 )
2013
9
Turcot syndrome type 2: medulloblastoma with multiple colorectal adenomas. ( 22732270 )
2012
10
Turcot syndrome: a case report in an unsuspected setting. ( 21959784 )
2012
11
Turcot syndrome: a synchronous clinical presentation of glioblastoma multiforme and adenocarcinoma of the colon. ( 23119205 )
2012
12
Muir-Torre Syndrome / Turcot Syndrome overlap? A patient with sebaceous carcinoma, colon cancer, and a malignant astrocytoma. ( 22630573 )
2012
13
First case report of turcot syndrome type 1 in Colombia. ( 23320220 )
2012
14
Glioblastomas with giant cell and sarcomatous features in patients with Turcot syndrome type 1: a clinicopathological study of 3 cases. ( 20657316 )
2010
15
Anaplastic oligoastrocytoma in Turcot syndrome. ( 19495563 )
2009
16
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. ( 19156169 )
2009
17
A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts. ( 19039682 )
2009
18
Turcot syndrome (glioma polyposis): a case report. ( 19005436 )
2008
19
Malignant transformation of high-grade astrocytoma associated with neurocysticercosis in a patient with Turcot syndrome. ( 17138070 )
2007
20
Turcot syndrome confirmed with molecular analysis. ( 17389002 )
2007
21
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. ( 16144131 )
2005
22
Pinealoblastoma in a patient with familial adenomatous polyposis: variant of Turcot syndrome type 2? Report of a case and review of the literature. ( 16400511 )
2005
23
A homozygous mutation in MSH6 causes Turcot syndrome. ( 16000562 )
2005
24
Molecular analysis of astrocytoma associated with Turcot syndrome type 1--case report. ( 15095965 )
2004
25
Molecular basis of the brain tumor-polyposis (Turcot) syndrome. ( 15018459 )
2003
26
Turcot syndrome in an elderly adult. ( 11907360 )
2002
27
Alterations of repeated sequences in 5' upstream and coding regions in colorectal tumors from patients with hereditary nonpolyposis colorectal cancer and Turcot syndrome. ( 11526511 )
2001
28
Ganglioglioma in a patient with Turcot syndrome. Case report. ( 10616098 )
2000
29
The characteristics of congenital hypertrophy of retinal pigment epithelium in Turcot syndrome. ( 10965256 )
2000
30
Turcot syndrome with colonic obstruction and small intestinal invagination: report of a case. ( 10483758 )
1999
31
Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome? ( 10070471 )
1998
32
Medulloblastoma and glioblastoma multiforme in a patient with Turcot syndrome: a case report. ( 9508118 )
1998
33
Turcot syndrome: case report and nosological aspects. ( 9505220 )
1997
34
Drastic genetic instability of tumors and normal tissues in Turcot syndrome. ( 9419979 )
1997
35
Ovarian neoplasm and endometrioid carcinoma in a patient with Turcot syndrome. ( 9252914 )
1997
36
A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. ( 8593545 )
1995
37
Germ-line and somatic mutations of the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors. ( 7515658 )
1994
38
[Turcot syndrome--a rare extra-intestinal manifestation of familial adenomatous polyposis?]. ( 8390092 )
1993
39
The Turcot syndrome (glioma polyposis) and its neurosurgical significance. Case report. ( 8127448 )
1993
40
Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. ( 1322639 )
1992
41
Ocular findings in Turcot syndrome (glioma-polyposis). ( 1850823 )
1991
42
Turcot syndrome: report of a case and review of the literature. ( 2540108 )
1989
43
Nonfamilial turcot syndrome presenting with astrocytoma--case report. ( 2477761 )
1989
44
Turcot syndrome. Autosomal dominant or recessive transmission? ( 3032534 )
1987
45
Turcot syndrome (glioma polyposis). Case report. ( 4056888 )
1985
46
Turcot syndrome and its characteristic colonic manifestations. ( 4006635 )
1985
47
Turcot syndrome: a case with spinal cord and colonic neoplasms. ( 6320614 )
1984
48
The Turcot syndrome. Report of an additional case and review of the literature. ( 6307612 )
1983
49
Case of Turcot syndrome: dilemma resolved. ( 6958881 )
1982
50
The Turcot syndrome. Case report. ( 6277828 )
1981

Variations for Mismatch Repair Cancer Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Mismatch Repair Cancer Syndrome:

75
# Symbol AA change Variation ID SNP ID
1 MLH1 p.Met35Asn VAR_043388 rs121912965
2 PMS2 p.Glu705Lys VAR_012974 rs267608161
3 PMS2 p.Ser46Ile VAR_066838 rs121434629
4 PMS2 p.Arg107Trp VAR_078521 rs188006077
5 PMS2 p.Cys115Gly VAR_078522
6 PMS2 p.Ser815Leu VAR_078537 rs587779338

ClinVar genetic disease variations for Mismatch Repair Cancer Syndrome:

6 (show top 50) (show all 96)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSH2 MSH2, EX1-6 DEL deletion Pathogenic
2 MSH2 NM_000251.2(MSH2): c.454delA (p.Met152Cysfs) deletion Pathogenic rs63751449 GRCh37 Chromosome 2, 47637320: 47637320
3 MSH2 NM_000251.2(MSH2): c.454delA (p.Met152Cysfs) deletion Pathogenic rs63751449 GRCh38 Chromosome 2, 47410181: 47410181
4 MSH6 MSH6, TRP1024TER undetermined variant Pathogenic
5 MSH6 MSH6, 3-BP DEL, NT3609 deletion Pathogenic
6 MSH6 NM_000179.2(MSH6): c.3633dupT (p.Val1212Cysfs) duplication Pathogenic rs587776706 GRCh37 Chromosome 2, 48032833: 48032833
7 MSH6 NM_000179.2(MSH6): c.3633dupT (p.Val1212Cysfs) duplication Pathogenic rs587776706 GRCh38 Chromosome 2, 47805694: 47805694
8 MSH6 MSH6, 1-BP INS, 1596T insertion Pathogenic
9 MSH6 MSH6, 1-BP DEL, 3261C deletion Pathogenic
10 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh37 Chromosome 7, 6042221: 6042221
11 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh38 Chromosome 7, 6002590: 6002590
12 PMS2 NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs) deletion Pathogenic rs587776715 GRCh37 Chromosome 7, 6027175: 6027175
13 PMS2 NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs) deletion Pathogenic rs587776715 GRCh38 Chromosome 7, 5987544: 5987544
14 PMS2 NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh37 Chromosome 7, 6017260: 6017260
15 PMS2 NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh38 Chromosome 7, 5977629: 5977629
16 PMS2 NM_000535.6(PMS2): c.1731_1732delGCinsAGT (p.Arg578Valfs) indel Pathogenic/Likely pathogenic rs1057515572 GRCh38 Chromosome 7, 5987033: 5987034
17 PMS2 NM_000535.6(PMS2): c.1731_1732delGCinsAGT (p.Arg578Valfs) indel Pathogenic/Likely pathogenic rs1057515572 GRCh37 Chromosome 7, 6026664: 6026665
18 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh37 Chromosome 7, 6045549: 6045549
19 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh38 Chromosome 7, 6005918: 6005918
20 PMS2 NM_000535.6(PMS2): c.219T> A (p.Cys73Ter) single nucleotide variant Pathogenic rs121434630 GRCh37 Chromosome 7, 6043634: 6043634
21 PMS2 NM_000535.6(PMS2): c.219T> A (p.Cys73Ter) single nucleotide variant Pathogenic rs121434630 GRCh38 Chromosome 7, 6004003: 6004003
22 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh37 Chromosome 3, 37089130: 37089132
23 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh38 Chromosome 3, 37047639: 37047641
24 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh37 Chromosome 3, 37053589: 37053589
25 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh38 Chromosome 3, 37012098: 37012098
26 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh37 Chromosome 3, 37038192: 37038192
27 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh38 Chromosome 3, 36996701: 36996701
28 MLH1 MLH1, EX16DEL deletion Pathogenic
29 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh37 Chromosome 3, 37090053: 37090053
30 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh38 Chromosome 3, 37048562: 37048562
31 MLH1 MLH1, 2-BP DEL, 593AG deletion Pathogenic
32 MLH1 NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn) indel Pathogenic rs121912965 GRCh37 Chromosome 3, 37035142: 37035143
33 MLH1 NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn) indel Pathogenic rs121912965 GRCh38 Chromosome 3, 36993651: 36993652
34 PMS2 NM_000535.6(PMS2): c.2149G> A (p.Val717Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201671325 GRCh37 Chromosome 7, 6022480: 6022480
35 PMS2 NM_000535.6(PMS2): c.2149G> A (p.Val717Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201671325 GRCh38 Chromosome 7, 5982849: 5982849
36 PMS2 NM_000535.6(PMS2): c.53T> C (p.Ile18Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201343342 GRCh37 Chromosome 7, 6045633: 6045633
37 PMS2 NM_000535.6(PMS2): c.53T> C (p.Ile18Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201343342 GRCh38 Chromosome 7, 6006002: 6006002
38 MLH1 NM_000249.3(MLH1): c.218T> G (p.Leu73Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397514684 GRCh37 Chromosome 3, 37042456: 37042456
39 MLH1 NM_000249.3(MLH1): c.218T> G (p.Leu73Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397514684 GRCh38 Chromosome 3, 37000965: 37000965
40 MSH6 NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs) deletion Pathogenic rs267608092 GRCh37 Chromosome 2, 48030697: 48030698
41 MSH6 NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs) deletion Pathogenic rs267608092 GRCh38 Chromosome 2, 47803558: 47803559
42 MSH6 NM_000179.2(MSH6): c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu) deletion Uncertain significance rs587776705 GRCh37 Chromosome 2, 48030772: 48030774
43 MSH6 NM_000179.2(MSH6): c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu) deletion Uncertain significance rs587776705 GRCh38 Chromosome 2, 47803633: 47803635
44 MLH1 NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) single nucleotide variant Likely pathogenic rs63750610 GRCh37 Chromosome 3, 37090054: 37090054
45 MLH1 NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) single nucleotide variant Likely pathogenic rs63750610 GRCh38 Chromosome 3, 37048563: 37048563
46 MLH1 NM_000249.3(MLH1): c.677+3A> G single nucleotide variant Pathogenic rs267607780 GRCh37 Chromosome 3, 37053593: 37053593
47 MLH1 NM_000249.3(MLH1): c.677+3A> G single nucleotide variant Pathogenic rs267607780 GRCh38 Chromosome 3, 37012102: 37012102
48 MSH2 NM_000251.2(MSH2): c.1662-1G> A single nucleotide variant Pathogenic rs267607970 GRCh37 Chromosome 2, 47698103: 47698103
49 MSH2 NM_000251.2(MSH2): c.1662-1G> A single nucleotide variant Pathogenic rs267607970 GRCh38 Chromosome 2, 47470964: 47470964
50 MSH2 NM_000251.2(MSH2): c.2006-5T> A single nucleotide variant Uncertain significance rs267607990 GRCh37 Chromosome 2, 47703501: 47703501

Cosmic variations for Mismatch Repair Cancer Syndrome:

9 (show top 50) (show all 6897)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM11517 TP53 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.377A>G p.Y126C 17:7675235-7675235 13
2 COSM17438 PTCH1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.2503G>T p.E835* 9:95467173-95467173 13
3 COSM5673 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>A p.S33Y 3:41224610-41224610 13
4 COSM5677 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>G p.S33C 3:41224610-41224610 13
5 COSM5669 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.98C>T p.S33F 3:41224610-41224610 13
6 COSM5682 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.97T>C p.S33P 3:41224609-41224609 13
7 COSM5672 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.94G>A p.D32N 3:41224606-41224606 13
8 COSM5662 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.110C>T p.S37F 3:41224622-41224622 13
9 COSM5670 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.101G>T p.G34V 3:41224613-41224613 13
10 COSM5675 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.109T>G p.S37A 3:41224621-41224621 13
11 COSM5686 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.100G>A p.G34R 3:41224612-41224612 13
12 COSM5671 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.101G>A p.G34E 3:41224613-41224613 13
13 COSM5691 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.95A>T p.D32V 3:41224607-41224607 13
14 COSM5661 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.94G>T p.D32Y 3:41224606-41224606 13
15 COSM5690 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.95A>C p.D32A 3:41224607-41224607 13
16 COSM5666 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.110C>A p.S37Y 3:41224622-41224622 13
17 COSM5687 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.109T>C p.S37P 3:41224621-41224621 13
18 COSM5667 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.134C>T p.S45F 3:41224646-41224646 13
19 COSM5718 CTNNB1 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.149G>A p.G50D 3:41224661-41224661 13
20 COSM4972316 AXIN2 central nervous system,brain,primitive neuroectodermal tumour-medulloblastoma,classic c.2087A>G p.Q696R 17:65536374-65536374 13
21 COSM40802 ZW10 central nervous system,brain,glioma,glioblastoma multiforme c.2140C>T p.P714S 11:113736699-113736699 11
22 COSM40801 ZSWIM4 central nervous system,brain,glioma,glioblastoma multiforme c.266C>T p.P89L 19:13799832-13799832 11
23 COSM6932117 ZRSR2 central nervous system,brain,glioma,glioblastoma multiforme c.271G>A p.E91K 23:15803755-15803755 11
24 COSM6948317 ZRSR2 central nervous system,brain,glioma,glioblastoma multiforme c.340C>T p.Q114* 23:15804138-15804138 11
25 COSM6932118 ZRSR2 central nervous system,brain,glioma,glioblastoma multiforme c.961C>T p.P321S 23:15822754-15822754 11
26 COSM39611 ZPLD1 central nervous system,brain,glioma,glioblastoma multiforme c.393A>T p.G131G 3:102456210-102456210 11
27 COSM40237 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.3651C>T p.T1217T 1:151291146-151291146 11
28 COSM39318 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.2044T>A p.C682S 1:151288335-151288335 11
29 COSM39317 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.2043G>C p.Q681H 1:151288334-151288334 11
30 COSM39149 ZNF507 central nervous system,brain,glioma,glioblastoma multiforme c.1517G>C p.R506T 19:32354347-32354347 11
31 COSM40794 ZNF473 central nervous system,brain,glioma,glioblastoma multiforme c.42C>T p.D14D 19:50039193-50039193 11
32 COSM39217 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2162T>G p.V721G 20:47246130-47246130 11
33 COSM40504 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2176G>A p.D726N 20:47246116-47246116 11
34 COSM39507 ZMAT4 central nervous system,brain,glioma,glioblastoma multiforme c.76G>A p.E26K 8:40825601-40825601 11
35 COSM6976869 ZFHX3 central nervous system,brain,glioma,glioblastoma multiforme c.4279G>A p.A1427T 16:72798403-72798403 11
36 COSM6929045 ZFHX3 central nervous system,brain,glioma,glioblastoma multiforme c.3607G>T p.E1203* 16:72811961-72811961 11
37 COSM5385367 ZFHX3 central nervous system,brain,glioma,glioblastoma multiforme c.934G>A p.D312N 16:72959212-72959212 11
38 COSM6976870 ZFHX3 central nervous system,brain,glioma,glioblastoma multiforme c.461G>A p.G154E 16:72959685-72959685 11
39 COSM6948292 ZFHX3 central nervous system,brain,glioma,glioblastoma multiforme c.1819G>A p.E607K 16:72958327-72958327 11
40 COSM40870 ZFC3H1 central nervous system,brain,glioma,glioblastoma multiforme c.1055G>A p.S352N 12:71647774-71647774 11
41 COSM40793 ZFAT central nervous system,brain,glioma,glioblastoma multiforme c.1006G>A p.V336M 8:134602677-134602677 11
42 COSM40680 ZEB1 central nervous system,brain,glioma,glioblastoma multiforme c.1913C>T p.S638L 10:31521248-31521248 11
43 COSM41152 ZC3H6 central nervous system,brain,glioma,glioblastoma multiforme c.2254G>T p.G752* 2:112331172-112331172 11
44 COSM40778 ZBTB4 central nervous system,brain,glioma,glioblastoma multiforme c.2842C>T p.L948F 17:7462140-7462140 11
45 COSM40777 ZBTB24 central nervous system,brain,glioma,glioblastoma multiforme c.1886C>T p.P629L 6:109466059-109466059 11
46 COSM39508 ZBTB21 central nervous system,brain,glioma,glioblastoma multiforme c.997G>A p.G333S 21:41993099-41993099 11
47 COSM40776 ZBTB16 central nervous system,brain,glioma,glioblastoma multiforme c.413C>T p.A138V 11:114063713-114063713 11
48 COSM41039 YWHAH central nervous system,brain,glioma,glioblastoma multiforme c.169C>T p.R57* 22:31956220-31956220 11
49 COSM40774 YTHDC2 central nervous system,brain,glioma,glioblastoma multiforme c.782C>T p.A261V 5:113532985-113532985 11
50 COSM4440509 YES1 central nervous system,brain,glioma,glioblastoma multiforme c.832C>T p.R278* 18:743308-743308 11

Expression for Mismatch Repair Cancer Syndrome

Search GEO for disease gene expression data for Mismatch Repair Cancer Syndrome.

Pathways for Mismatch Repair Cancer Syndrome

Pathways related to Mismatch Repair Cancer Syndrome according to KEGG:

37
# Name Kegg Source Accession
1 Mismatch repair hsa03430
2 Colorectal cancer hsa05210
3 Endometrial cancer hsa05213

Pathways related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 MLH1 MSH2 PMS2 PTEN
2
Show member pathways
12.59 APC CTNNB1 MLH1 MSH2 MSH6 PTEN
3 12.52 APC CTNNB1 MLH1 MSH2 MSH6 PTEN
4
Show member pathways
12.48 APC CTNNB1 MLH1 PTEN
5 11.98 APC CTNNB1 PAX3
6 11.89 CTNNB1 MSH2 MSH6 PTEN
7 11.87 APC CTNNB1 MLH1 MSH2 MSH6
8 11.73 APC CTNNB1 PTEN
9 11.7 APC CTNNB1 PTEN
10 11.67 APC MLH1 MSH2 PMS2 PTEN
11 11.5 MLH1 MSH2 MSH6
12 11.34 MLH1 MSH2 MSH6
13 11.27 APC CTNNB1
14 11.27 MSH2 MSH6 PTEN
15
Show member pathways
11.25 MLH1 MSH2
16 11.23 APC CTNNB1
17
Show member pathways
11.19 MLH1 MSH2
18 11.15 APC PTEN
19 11.04 APC CTNNB1
20
Show member pathways
11.01 MLH1 MSH2 MSH6 PMS1 PMS2
21 10.92 APC CTNNB1
22 10.78 APC CTNNB1
23 10.72 MLH1 MSH2 MSH6 PMS2

GO Terms for Mismatch Repair Cancer Syndrome

Cellular components related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.96 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
2 nucleoplasm GO:0005654 9.92 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
3 catenin complex GO:0016342 9.43 APC CTNNB1
4 beta-catenin destruction complex GO:0030877 9.4 APC CTNNB1
5 Wnt signalosome GO:1990909 9.37 APC CTNNB1
6 MutSalpha complex GO:0032301 9.16 MSH2 MSH6
7 MutLalpha complex GO:0032389 9.13 MLH1 PMS1 PMS2
8 mismatch repair complex GO:0032300 9.02 MLH1 MSH2 MSH6 PMS1 PMS2

Biological processes related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.85 CTNNB1 PMS1 PMS2 PTEN
2 DNA repair GO:0006281 9.77 MLH1 MSH2 MSH6 PMS1 PMS2
3 cellular response to DNA damage stimulus GO:0006974 9.73 APC MLH1 MSH2 MSH6 PMS1 PMS2
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MLH1 MSH2 MSH6
5 regulation of cell differentiation GO:0045595 9.6 APC CTNNB1
6 beta-catenin destruction complex disassembly GO:1904886 9.59 APC CTNNB1
7 cell fate specification GO:0001708 9.58 APC CTNNB1
8 negative regulation of DNA recombination GO:0045910 9.58 MSH2 MSH6
9 determination of adult lifespan GO:0008340 9.57 MSH2 MSH6
10 positive regulation of isotype switching to IgG isotypes GO:0048304 9.56 MLH1 MSH2
11 positive regulation of helicase activity GO:0051096 9.54 MSH2 MSH6
12 pyrimidine dimer repair GO:0006290 9.52 MSH2 MSH6
13 replication fork arrest GO:0043111 9.51 MSH2 MSH6
14 isotype switching GO:0045190 9.5 MLH1 MSH2 MSH6
15 maintenance of DNA repeat elements GO:0043570 9.49 MSH2 MSH6
16 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MLH1 MSH2
17 meiotic mismatch repair GO:0000710 9.46 MSH2 MSH6
18 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MLH1 MSH2
19 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
20 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
21 mismatch repair GO:0006298 9.02 MLH1 MSH2 MSH6 PMS1 PMS2

Molecular functions related to Mismatch Repair Cancer Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.97 MLH1 MSH2 MSH6 PMS1 PMS2
2 protein kinase binding GO:0019901 9.83 APC CTNNB1 MSH2 PTEN
3 chromatin binding GO:0003682 9.8 CTNNB1 MLH1 MSH2 MSH6
4 ATPase activity GO:0016887 9.65 MLH1 MSH2 MSH6 PMS1 PMS2
5 enzyme binding GO:0019899 9.63 CTNNB1 MLH1 MSH2 MSH6 PMS1 PTEN
6 single-stranded DNA binding GO:0003697 9.62 MLH1 MSH2 PMS1 PMS2
7 DNA-dependent ATPase activity GO:0008094 9.56 MSH2 MSH6
8 ADP binding GO:0043531 9.55 MSH2 MSH6
9 four-way junction DNA binding GO:0000400 9.51 MSH2 MSH6
10 MutLalpha complex binding GO:0032405 9.48 MSH2 MSH6
11 MutSalpha complex binding GO:0032407 9.46 MLH1 PMS2
12 oxidized purine DNA binding GO:0032357 9.43 MSH2 MSH6
13 single thymine insertion binding GO:0032143 9.4 MSH2 MSH6
14 single guanine insertion binding GO:0032142 9.37 MSH2 MSH6
15 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
16 mismatched DNA binding GO:0030983 9.02 MLH1 MSH2 MSH6 PMS1 PMS2
17 DNA binding GO:0003677 10.01 MSH2 MSH6 MYCN PAX3 PMS1 PMS2

Sources for Mismatch Repair Cancer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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