MCID: MSM014
MIFTS: 62

Mismatch Repair Cancer Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases, Gastrointestinal diseases, Cancer 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 medulloblastoma. 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 Capecitabine and Nicotine 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

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.

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.

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 71)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 1 32.3 APC CTNNB1
2 medulloblastoma 29.1 APC CTNNB1 MYCN PAX3 PTEN
3 adenocarcinoma 28.9 APC CTNNB1 MLH1 PTEN
4 gastric cancer 28.6 APC CTNNB1 MLH1 PTEN
5 ovarian cancer 28.1 CTNNB1 MLH1 MSH2 MSH6 PTEN
6 lynch syndrome 27.8 APC CTNNB1 MLH1 MSH2 MSH6 PMS1
7 endometrial cancer 27.7 CTNNB1 MLH1 MSH2 MSH6 PMS2 PTEN
8 colorectal cancer 26.8 APC CTNNB1 MLH1 MSH2 MSH6 PMS1
9 retinoblastoma 11.5
10 glioblastoma 11.3
11 glioma susceptibility 1 11.1
12 neurofibromatosis, type i 11.1
13 childhood leukemia 11.1
14 neuroblastoma 10.9
15 beckwith-wiedemann syndrome 10.8
16 adrenal carcinoma 10.8
17 li-fraumeni syndrome 10.6
18 brain tumor, childhood 10.6
19 lower lip cancer 10.5 MLH1 MSH2
20 anal fistula 10.5 MLH1 MSH2
21 gastric leiomyoma 10.5 MLH1 MSH6
22 polyposis syndrome, hereditary mixed, 1 10.5 APC MLH1
23 melanocytic nevus syndrome, congenital 10.4 MLH1 MSH2
24 anal squamous cell carcinoma 10.4 APC MLH1
25 legius syndrome 10.3 MSH2 MSH6
26 adenomyoma 10.3 CTNNB1 MLH1
27 desmoid disease, hereditary 10.3 APC CTNNB1
28 desmoid tumor 10.2 APC CTNNB1
29 small intestine cancer 10.2 MLH1 MSH2
30 skin benign neoplasm 10.2 MLH1 MSH2 MSH6
31 hepatic adenomas, familial 10.2 APC CTNNB1
32 attenuated familial adenomatous polyposis 10.1 APC MSH2 MSH6
33 familial colorectal cancer 10.1 APC MLH1 MSH2
34 gastrointestinal system benign neoplasm 10.1 CTNNB1 MLH1
35 neurofibromatosis, type iv, of riccardi 10.0
36 leukemia 10.0
37 glioma 10.0
38 keratoacanthoma 10.0 MLH1 MSH2
39 childhood kidney cell carcinoma 10.0 MLH1 MSH2 PAX3
40 female reproductive endometrioid cancer 10.0 CTNNB1 PTEN
41 ulcerative colitis 9.9 CTNNB1 MLH1 MSH2
42 atypical polypoid adenomyoma 9.9 CTNNB1 MLH1 PMS1
43 appendix carcinoid tumor 9.9 MLH1 MSH2 MSH6 PMS2
44 adenosquamous colon carcinoma 9.9 MLH1 MSH2 MSH6 PMS2
45 sebaceous adenoma 9.9 MLH1 MSH2 MSH6 PMS2
46 colitis 9.9 CTNNB1 MLH1 MSH2
47 birt-hogg-dube syndrome 9.8 CTNNB1 PTEN
48 fibromatosis 9.8 APC CTNNB1
49 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 9.8 CTNNB1 PTEN
50 cerebral primitive neuroectodermal tumor 9.7 MSH2 MYCN

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 MSH2 MSH6 PMS1 PMS2 MLH1

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 homeostasis/metabolism MP:0005376 10.18 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
3 digestive/alimentary MP:0005381 10.16 APC CTNNB1 MLH1 MSH2 MYCN PAX3
4 hematopoietic system MP:0005397 10.14 APC CTNNB1 MSH2 MSH6 MYCN PAX3
5 mortality/aging MP:0010768 10.09 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
6 immune system MP:0005387 10.05 APC CTNNB1 MSH2 MSH6 PAX3 PMS2
7 integument MP:0010771 10.04 MSH6 PAX3 PTEN APC CTNNB1 MLH1
8 endocrine/exocrine gland MP:0005379 10.02 APC CTNNB1 MLH1 PAX3 PMS2 PTEN
9 neoplasm MP:0002006 10.02 CTNNB1 MLH1 MSH2 MSH6 PAX3 PMS1
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 PTEN APC CTNNB1 PAX3
16 respiratory system MP:0005388 9.35 PAX3 PTEN CTNNB1 MLH1 MYCN
17 vision/eye MP:0005391 9.1 APC CTNNB1 MLH1 MYCN PAX3 PTEN

Drugs & Therapeutics for Mismatch Repair Cancer Syndrome

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

(show top 50) (show all 58)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Capecitabine Approved, Investigational Phase 3,Phase 2 154361-50-9 60953
2
Nicotine Approved Phase 3 54-11-5 942 89594
3
Oxaliplatin Approved, Investigational Phase 3,Phase 2 61825-94-3 5310940 9887054 43805 6857599
4
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
5
Bevacizumab Approved, Investigational Phase 3,Phase 2 216974-75-3
6
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
7
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 143 6006
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
9 Micronutrients Phase 3
10 Mitogens Phase 3
11 Hematinics Phase 3
12 Trace Elements Phase 3
13 Angiogenesis Inhibitors Phase 3,Phase 2
14 Angiogenesis Modulating Agents Phase 3,Phase 2
15 Endothelial Growth Factors Phase 3
16 Vitamin B Complex Phase 3
17 Immunoglobulin G Phase 3,Phase 1,Phase 2
18 Vitamins Phase 3
19 Antibodies Phase 3,Phase 1,Phase 2
20 Immunoglobulins Phase 3,Phase 1,Phase 2
21 Antibodies, Monoclonal Phase 3,Phase 1,Phase 2
22 Immunosuppressive Agents Phase 3,Phase 2
23 Antidotes Phase 3
24 Protective Agents Phase 3
25 Antimetabolites Phase 3,Phase 2
26 Bone Density Conservation Agents Phase 3
27 Antimetabolites, Antineoplastic Phase 3,Phase 2
28 Calcium, Dietary Phase 3
29 Cola Nutraceutical Phase 3
30 Folate Nutraceutical Phase 3
31 Vitamin B9 Nutraceutical Phase 3
32
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
33
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
34
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
35
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
36
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
37
Adenosine Approved, Investigational Phase 2 58-61-7 60961
38
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
39
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
40
Pembrolizumab Approved Phase 2,Phase 1 1374853-91-4
41
Palbociclib Approved, Investigational Phase 2 571190-30-2 11431660 5005498 5330286
42
Trametinib Approved Phase 2 871700-17-3 11707110
43
nivolumab Approved Phase 1, Phase 2,Phase 2 946414-94-4
44
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
45
Pancrelipase Approved, Investigational Phase 2 53608-75-6
46
Osimertinib Approved Phase 2 1421373-65-0 71496458
47
Racepinephrine Approved Phase 2 329-65-7 838
48 pancreatin Phase 2
49
s 1 (combination) Phase 2
50 Ado-trastuzumab emtansine Phase 2

Interventional clinical trials:

(show all 13)
# 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 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
7 Pembrolizumab in MMR-Proficient Metastatic Colorectal Cancer Pharmacologically Primed to Trigger Hypermutation Status Not yet recruiting NCT03519412 Phase 2 temozolomide (induction),
8 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
9 SYNERGY-AI: Artificial Intelligence Based Precision Oncology Clinical Trial Matching and Registry Recruiting NCT03452774
10 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
11 Study of Changes and Characteristics of Genes in Patients With Pancreatic Cancer for Better Treatment Selection Recruiting NCT02750657
12 Phenotyping of Small Bowel Adenocarcinoma Active, not recruiting NCT02976090
13 Universal Endometrial Cancer DNA Sequencing for Detection of Lynch Syndrome and Personalized Care Enrolling by invitation NCT03460483 Not Applicable

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, Testes, Endothelial, Small Intestine

Publications for Mismatch Repair Cancer Syndrome

Articles related to Mismatch Repair Cancer Syndrome:

(show all 47)
# Title Authors Year
1
Gastrointestinal stromal tumor in turcot syndrome. ( 25831251 )
2015
2
A potential life-saving diagnosis--recognizing Turcot syndrome. ( 24698620 )
2014
3
A Novel APC Gene Mutation Associated With a Severe Phenotype in a Patient With Turcot Syndrome. ( 24309598 )
2013
4
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. ( 23483711 )
2013
5
Turcot syndrome type 2: medulloblastoma with multiple colorectal adenomas. ( 22732270 )
2012
6
Turcot syndrome: a case report in an unsuspected setting. ( 21959784 )
2012
7
Turcot syndrome: a synchronous clinical presentation of glioblastoma multiforme and adenocarcinoma of the colon. ( 23119205 )
2012
8
Muir-Torre Syndrome / Turcot Syndrome overlap? A patient with sebaceous carcinoma, colon cancer, and a malignant astrocytoma. ( 22630573 )
2012
9
First case report of turcot syndrome type 1 in Colombia. ( 23320220 )
2012
10
Glioblastomas with giant cell and sarcomatous features in patients with Turcot syndrome type 1: a clinicopathological study of 3 cases. ( 20657316 )
2010
11
Anaplastic oligoastrocytoma in Turcot syndrome. ( 19495563 )
2009
12
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. ( 19156169 )
2009
13
A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts. ( 19039682 )
2009
14
Turcot syndrome (glioma polyposis): a case report. ( 19005436 )
2008
15
Malignant transformation of high-grade astrocytoma associated with neurocysticercosis in a patient with Turcot syndrome. ( 17138070 )
2007
16
Turcot syndrome confirmed with molecular analysis. ( 17389002 )
2007
17
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. ( 16144131 )
2005
18
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
19
A homozygous mutation in MSH6 causes Turcot syndrome. ( 16000562 )
2005
20
Molecular analysis of astrocytoma associated with Turcot syndrome type 1--case report. ( 15095965 )
2004
21
Molecular basis of the brain tumor-polyposis (Turcot) syndrome. ( 15018459 )
2003
22
Turcot syndrome in an elderly adult. ( 11907360 )
2002
23
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
24
Ganglioglioma in a patient with Turcot syndrome. Case report. ( 10616098 )
2000
25
The characteristics of congenital hypertrophy of retinal pigment epithelium in Turcot syndrome. ( 10965256 )
2000
26
Turcot syndrome with colonic obstruction and small intestinal invagination: report of a case. ( 10483758 )
1999
27
Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome? ( 10070471 )
1998
28
Medulloblastoma and glioblastoma multiforme in a patient with Turcot syndrome: a case report. ( 9508118 )
1998
29
Turcot syndrome: case report and nosological aspects. ( 9505220 )
1997
30
Drastic genetic instability of tumors and normal tissues in Turcot syndrome. ( 9419979 )
1997
31
Ovarian neoplasm and endometrioid carcinoma in a patient with Turcot syndrome. ( 9252914 )
1997
32
Polyposis coli, craniofacial exostosis and astrocytoma: the concomitant occurrence of the Gardner's and Turcot syndromes. ( 8638216 )
1996
33
A tale of four syndromes: familial adenomatous polyposis, Gardner syndrome, attenuated APC and Turcot syndrome. ( 8593545 )
1995
34
Germ-line and somatic mutations of the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors. ( 7515658 )
1994
35
[Turcot syndrome--a rare extra-intestinal manifestation of familial adenomatous polyposis?]. ( 8390092 )
1993
36
The Turcot syndrome (glioma polyposis) and its neurosurgical significance. Case report. ( 8127448 )
1993
37
Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. ( 1322639 )
1992
38
Ocular findings in Turcot syndrome (glioma-polyposis). ( 1850823 )
1991
39
Turcot syndrome: report of a case and review of the literature. ( 2540108 )
1989
40
Turcot syndrome. Autosomal dominant or recessive transmission? ( 3032534 )
1987
41
Turcot syndrome (glioma polyposis). Case report. ( 4056888 )
1985
42
Turcot syndrome and its characteristic colonic manifestations. ( 4006635 )
1985
43
Turcot syndrome: a case with spinal cord and colonic neoplasms. ( 6320614 )
1984
44
The Turcot syndrome. Report of an additional case and review of the literature. ( 6307612 )
1983
45
Case of Turcot syndrome: dilemma resolved. ( 6958881 )
1982
46
The Turcot syndrome. Case report. ( 6277828 )
1981
47
The Turcot syndrome. ( 463440 )
1979

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 66)
# 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 rs1057515572 GRCh38 Chromosome 7, 5987033: 5987034
17 PMS2 NM_000535.6(PMS2): c.1731_1732delGCinsAGT (p.Arg578Valfs) indel 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 MSH6 NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs) deletion Pathogenic rs267608092 GRCh37 Chromosome 2, 48030697: 48030698
35 MSH6 NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs) deletion Pathogenic rs267608092 GRCh38 Chromosome 2, 47803558: 47803559
36 MLH1 NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) single nucleotide variant Pathogenic rs63750610 GRCh37 Chromosome 3, 37090054: 37090054
37 MLH1 NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) single nucleotide variant Pathogenic rs63750610 GRCh38 Chromosome 3, 37048563: 37048563
38 MLH1 NM_000249.3(MLH1): c.677+3A> G single nucleotide variant Pathogenic rs267607780 GRCh37 Chromosome 3, 37053593: 37053593
39 MLH1 NM_000249.3(MLH1): c.677+3A> G single nucleotide variant Pathogenic rs267607780 GRCh38 Chromosome 3, 37012102: 37012102
40 MSH2 NM_000251.2(MSH2): c.1662-1G> A single nucleotide variant Pathogenic rs267607970 GRCh37 Chromosome 2, 47698103: 47698103
41 MSH2 NM_000251.2(MSH2): c.1662-1G> A single nucleotide variant Pathogenic rs267607970 GRCh38 Chromosome 2, 47470964: 47470964
42 PMS2 NM_000535.6(PMS2): c.1145-?_2445+?del deletion Pathogenic
43 PMS2 NM_000535.6(PMS2): c.1169_1170ins20 (p.?) insertion Pathogenic rs587779327 GRCh37 Chromosome 7, 6027226: 6027227
44 PMS2 NM_000535.6(PMS2): c.1169_1170ins20 (p.?) insertion Pathogenic rs587779327 GRCh38 Chromosome 7, 5987595: 5987596
45 PMS2 NM_000535.6(PMS2): c.1306dupA (p.Ser436Lysfs) duplication Pathogenic rs63750106 GRCh37 Chromosome 7, 6027090: 6027090
46 PMS2 NM_000535.6(PMS2): c.1306dupA (p.Ser436Lysfs) duplication Pathogenic rs63750106 GRCh38 Chromosome 7, 5987459: 5987459
47 PMS2 NM_000535.6(PMS2): c.182delA (p.Tyr61Leufs) deletion Pathogenic rs63750793 GRCh37 Chromosome 7, 6043671: 6043671
48 PMS2 NM_000535.6(PMS2): c.182delA (p.Tyr61Leufs) deletion Pathogenic rs63750793 GRCh38 Chromosome 7, 6004040: 6004040
49 PMS2 NM_000535.6(PMS2): c.1927C> T (p.Gln643Ter) single nucleotide variant Pathogenic rs63751422 GRCh37 Chromosome 7, 6026469: 6026469
50 PMS2 NM_000535.6(PMS2): c.1927C> T (p.Gln643Ter) single nucleotide variant Pathogenic rs63751422 GRCh38 Chromosome 7, 5986838: 5986838

Cosmic variations for Mismatch Repair Cancer Syndrome:

9
(show top 50) (show all 6874)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM40802 ZW10 central nervous system,brain,glioma,glioblastoma multiforme c.2140C>T p.P714S 11:113736699-113736699 11
2 COSM40801 ZSWIM4 central nervous system,brain,glioma,glioblastoma multiforme c.266C>T p.P89L 19:13799832-13799832 11
3 COSM6932117 ZRSR2 central nervous system,brain,glioma,glioblastoma multiforme c.271G>A p.E91K 23:15803755-15803755 11
4 COSM6948317 ZRSR2 central nervous system,brain,glioma,glioblastoma multiforme c.340C>T p.Q114* 23:15804138-15804138 11
5 COSM6932118 ZRSR2 central nervous system,brain,glioma,glioblastoma multiforme c.961C>T p.P321S 23:15822754-15822754 11
6 COSM39611 ZPLD1 central nervous system,brain,glioma,glioblastoma multiforme c.393A>T p.G131G 3:102456210-102456210 11
7 COSM40237 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.3651C>T p.T1217T 1:151291146-151291146 11
8 COSM39318 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.2044T>A p.C682S 1:151288335-151288335 11
9 COSM39317 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.2043G>C p.Q681H 1:151288334-151288334 11
10 COSM39149 ZNF507 central nervous system,brain,glioma,glioblastoma multiforme c.1517G>C p.R506T 19:32354347-32354347 11
11 COSM40794 ZNF473 central nervous system,brain,glioma,glioblastoma multiforme c.42C>T p.D14D 19:50039193-50039193 11
12 COSM39217 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2162T>G p.V721G 20:47246130-47246130 11
13 COSM40504 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2176G>A p.D726N 20:47246116-47246116 11
14 COSM39507 ZMAT4 central nervous system,brain,glioma,glioblastoma multiforme c.76G>A p.E26K 8:40825601-40825601 11
15 COSM6976869 ZFHX3 central nervous system,brain,glioma,glioblastoma multiforme c.4279G>A p.A1427T 16:72798403-72798403 11
16 COSM6929045 ZFHX3 central nervous system,brain,glioma,glioblastoma multiforme c.3607G>T p.E1203* 16:72811961-72811961 11
17 COSM5385367 ZFHX3 central nervous system,brain,glioma,glioblastoma multiforme c.934G>A p.D312N 16:72959212-72959212 11
18 COSM6976870 ZFHX3 central nervous system,brain,glioma,glioblastoma multiforme c.461G>A p.G154E 16:72959685-72959685 11
19 COSM6948292 ZFHX3 central nervous system,brain,glioma,glioblastoma multiforme c.1819G>A p.E607K 16:72958327-72958327 11
20 COSM40870 ZFC3H1 central nervous system,brain,glioma,glioblastoma multiforme c.1055G>A p.S352N 12:71647774-71647774 11
21 COSM40793 ZFAT central nervous system,brain,glioma,glioblastoma multiforme c.1006G>A p.V336M 8:134602677-134602677 11
22 COSM40680 ZEB1 central nervous system,brain,glioma,glioblastoma multiforme c.1913C>T p.S638L 10:31521248-31521248 11
23 COSM41152 ZC3H6 central nervous system,brain,glioma,glioblastoma multiforme c.2254G>T p.G752* 2:112331172-112331172 11
24 COSM40778 ZBTB4 central nervous system,brain,glioma,glioblastoma multiforme c.2842C>T p.L948F 17:7462140-7462140 11
25 COSM40777 ZBTB24 central nervous system,brain,glioma,glioblastoma multiforme c.1886C>T p.P629L 6:109466059-109466059 11
26 COSM39508 ZBTB21 central nervous system,brain,glioma,glioblastoma multiforme c.997G>A p.G333S 21:41993099-41993099 11
27 COSM40776 ZBTB16 central nervous system,brain,glioma,glioblastoma multiforme c.413C>T p.A138V 11:114063713-114063713 11
28 COSM41039 YWHAH central nervous system,brain,glioma,glioblastoma multiforme c.169C>T p.R57* 22:31956220-31956220 11
29 COSM40774 YTHDC2 central nervous system,brain,glioma,glioblastoma multiforme c.782C>T p.A261V 5:113532985-113532985 11
30 COSM4440509 YES1 central nervous system,brain,glioma,glioblastoma multiforme c.832C>T p.R278* 18:743308-743308 11
31 COSM6913717 YES1 central nervous system,brain,glioma,glioblastoma multiforme c.1153G>A p.A385T 18:736946-736946 11
32 COSM6962767 YAP1 central nervous system,brain,glioma,glioblastoma multiforme c.538G>A p.A180T 11:102114360-102114360 11
33 COSM6931893 YAP1 central nervous system,brain,glioma,glioblastoma multiforme c.1007C>T p.T336I 11:102227474-102227474 11
34 COSM6928995 YAP1 central nervous system,brain,glioma,glioblastoma multiforme c.842G>A p.R281Q 11:102206046-102206046 11
35 COSM6976817 XRCC2 central nervous system,brain,glioma,glioblastoma multiforme c.365G>A p.S122N 7:152649120-152649120 11
36 COSM39272 XPO7 central nervous system,brain,glioma,glioblastoma multiforme c.1157G>A p.R386Q 8:21982692-21982692 11
37 COSM6931627 XPO1 central nervous system,brain,glioma,glioblastoma multiforme c.551G>A p.G184E 2:61499752-61499752 11
38 COSM6962233 XPO1 central nervous system,brain,glioma,glioblastoma multiforme c.1192C>G p.Q398E 2:61493947-61493947 11
39 COSM6981708 XPO1 central nervous system,brain,glioma,glioblastoma multiforme c.319G>T p.V107F 2:61502293-61502293 11
40 COSM40772 XPO1 central nervous system,brain,glioma,glioblastoma multiforme c.1147G>A p.E383K 2:61493992-61493992 11
41 COSM6976397 XPO1 central nervous system,brain,glioma,glioblastoma multiforme c.28G>A p.D10N 2:61533870-61533870 11
42 COSM6932148 XIAP central nervous system,brain,glioma,glioblastoma multiforme c.227G>A p.G76E 23:123885889-123885889 11
43 COSM6927664 XIAP central nervous system,brain,glioma,glioblastoma multiforme c.184C>T p.R62W 23:123885846-123885846 11
44 COSM21780 XAB2 central nervous system,brain,glioma,glioblastoma multiforme c.849C>A p.I283I 19:7624419-7624419 11
45 COSM6976419 WT1 central nervous system,brain,glioma,glioblastoma multiforme c.1166A>T p.Q389L 11:32392034-32392034 11
46 COSM6943853 WT1 central nervous system,brain,glioma,glioblastoma multiforme c.472C>T p.P158S 11:32428590-32428590 11
47 COSM6951513 WT1 central nervous system,brain,glioma,glioblastoma multiforme c.1124G>A p.R375K 11:32392677-32392677 11
48 COSM39469 WNK2 central nervous system,brain,glioma,glioblastoma multiforme c.3757G>A p.A1253T 9:93267848-93267848 11
49 COSM40770 WNK1 central nervous system,brain,glioma,glioblastoma multiforme c.5293G>A p.G1765S 12:887233-887233 11
50 COSM40769 WFS1 central nervous system,brain,glioma,glioblastoma multiforme c.573G>A p.K191K 4:6291309-6291309 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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.69 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 11.27 APC CTNNB1
13 11.27 MSH2 MSH6 PTEN
14
Show member pathways
11.24 MLH1 MSH2
15 11.22 APC CTNNB1
16
Show member pathways
11.19 MLH1 MSH2
17 11.14 APC PTEN
18 11.03 APC CTNNB1
19
Show member pathways
11.01 MLH1 MSH2 MSH6 PMS1 PMS2
20 10.92 APC CTNNB1
21 10.78 APC CTNNB1
22 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 9.84 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 canonical Wnt signaling pathway GO:0060070 9.72 APC CTNNB1 PTEN
5 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MLH1 MSH2 MSH6
6 regulation of cell differentiation GO:0045595 9.6 APC CTNNB1
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.59 CTNNB1 MYCN
8 beta-catenin destruction complex disassembly GO:1904886 9.58 APC CTNNB1
9 cell fate specification GO:0001708 9.58 APC CTNNB1
10 determination of adult lifespan GO:0008340 9.57 MSH2 MSH6
11 positive regulation of isotype switching to IgG isotypes GO:0048304 9.56 MLH1 MSH2
12 positive regulation of helicase activity GO:0051096 9.52 MSH2 MSH6
13 negative regulation of DNA recombination GO:0045910 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 16)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.81 APC CTNNB1 MSH2 PTEN
2 magnesium ion binding GO:0000287 9.7 MSH2 MSH6 PTEN
3 ATPase activity GO:0016887 9.65 MLH1 MSH2 MSH6 PMS1 PMS2
4 single-stranded DNA binding GO:0003697 9.62 MLH1 MSH2 PMS1 PMS2
5 DNA-dependent ATPase activity GO:0008094 9.56 MSH2 MSH6
6 ADP binding GO:0043531 9.55 MSH2 MSH6
7 four-way junction DNA binding GO:0000400 9.49 MSH2 MSH6
8 oxidized purine DNA binding GO:0032357 9.48 MSH2 MSH6
9 MutLalpha complex binding GO:0032405 9.46 MSH2 MSH6
10 MutSalpha complex binding GO:0032407 9.43 MLH1 PMS2
11 single guanine insertion binding GO:0032142 9.4 MSH2 MSH6
12 single thymine insertion binding GO:0032143 9.37 MSH2 MSH6
13 guanine/thymine mispair binding GO:0032137 9.33 MLH1 MSH2 MSH6
14 single base insertion or deletion binding GO:0032138 9.13 MSH2 MSH6 PMS2
15 mismatched DNA binding GO:0030983 9.02 MLH1 MSH2 MSH6 PMS1 PMS2
16 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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