MCID: MSM014
MIFTS: 63

Mismatch Repair Cancer Syndrome

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

Aliases & Classifications for Mismatch Repair Cancer Syndrome

MalaCards integrated aliases for Mismatch Repair Cancer Syndrome:

Name: Mismatch Repair Cancer Syndrome 53 49 71 13
Turcot Syndrome 53 72 49 71 28 51 69
Mismatch Repair Deficiency 53 49 71 36
Constitutional Mismatch Repair Deficiency Syndrome 53 55 71
Mmr Deficiency 53 49 71
Mmrcs 53 49 71
Brain Tumor-Polyposis Syndrome 1 53 71
Childhood Cancer Syndrome 53 71
Btp1 Syndrome 53 71
Cmmrds 53 71
Btps1 53 71
Malignant Tumors of the Central Nervous System Associated with Familial Polyposis of the Colon 49
Constitutional Mismatch Repair Deficiency Syndrome; Cmmrds 53
Cns Tumors with Familial Polyposis of the Colon 49
Brain Tumor-Polyposis Syndrome 1; Btps1 53
Brain Tumor-Polyposis Syndrome 49
Malignant Childhood Neoplasm 69
Glioma-Polyposis Syndrome 49
Childhood Cancer 51
Cmmr-D Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
constitutional mismatch repair deficiency syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
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:

31
mismatch repair cancer syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Mismatch Repair Cancer Syndrome

OMIM : 53 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, and has symptoms including agenesis of corpus callosum, lymphoma and astrocytoma. 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 Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include brain, colon and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

NIH Rare Diseases : 49 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. Last updated: 8/29/2012

UniProtKB/Swiss-Prot : 71 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 : 72 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 86)
# Related Disease Score Top Affiliating Genes
1 familial adenomatous polyposis 1 32.2 APC CTNNB1
2 medulloblastoma 30.9 APC CTNNB1 MYCN PAX3
3 neurofibromatosis, type iv, of riccardi 29.9 MLH1 MSH2 MSH6 PMS2
4 adenocarcinoma 29.5 CTNNB1 MLH1 MSH2
5 lynch syndrome 28.2 APC CTNNB1 MLH1 MSH2 MSH6 PMS1
6 colorectal cancer 28.1 APC CTNNB1 MLH1 MSH2 MSH6 PMS1
7 retinoblastoma 11.5
8 glioblastoma 11.3
9 glioma susceptibility 1 11.1
10 neurofibromatosis, type i 11.1
11 childhood leukemia 11.1
12 neuroblastoma 11.0
13 adrenal carcinoma 10.8
14 beckwith-wiedemann syndrome 10.6
15 li-fraumeni syndrome 10.6
16 brain tumor, childhood 10.6
17 lower lip cancer 10.3 MLH1 MSH2
18 anal fistula 10.3 MLH1 MSH2
19 gastric leiomyoma 10.3 MLH1 MSH6
20 polyposis syndrome, hereditary mixed, 1 10.3 APC MLH1
21 anal squamous cell carcinoma 10.3 APC MLH1
22 melanocytic nevus syndrome, congenital 10.3 MLH1 MSH2
23 legius syndrome 10.2 MSH2 MSH6
24 desmoid disease, hereditary 10.2 APC CTNNB1
25 adenomyoma 10.2 CTNNB1 MLH1
26 desmoid tumor 10.1 APC CTNNB1
27 small intestine cancer 10.1 MLH1 MSH2 MSH6
28 skin benign neoplasm 10.1 MLH1 MSH2 MSH6
29 hepatic adenomas, familial 10.1 APC CTNNB1
30 familial colorectal cancer 10.1 APC MLH1 MSH2
31 attenuated familial adenomatous polyposis 10.1 APC MSH2 MSH6
32 keratoacanthoma 10.1 MLH1 MSH2
33 gastrointestinal system benign neoplasm 10.0 CTNNB1 MLH1
34 acinar cell carcinoma 10.0 APC CTNNB1
35 atypical polypoid adenomyoma 10.0 CTNNB1 MLH1 MSH2
36 female reproductive endometrioid cancer 10.0 CTNNB1 PTEN
37 childhood kidney cell carcinoma 10.0 MLH1 MSH2 PAX3
38 colorectal adenoma 10.0 CTNNB1 MLH1 MSH2
39 fibromatosis 9.9 APC CTNNB1
40 ulcerative colitis 9.9 CTNNB1 MLH1 MSH2
41 birt-hogg-dube syndrome 9.9 CTNNB1 PTEN
42 appendix carcinoid tumor 9.9 MLH1 MSH2 MSH6 PMS2
43 adenosquamous colon carcinoma 9.9 MLH1 MSH2 MSH6 PMS2
44 colitis 9.9 CTNNB1 MLH1 MSH2
45 sebaceous adenoma 9.9 MLH1 MSH2 MSH6 PMS2
46 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 9.9 CTNNB1 PTEN
47 burkitt lymphoma 9.9
48 leukemia, acute myeloid 9.9
49 alveolar soft part sarcoma 9.9
50 leukemia 9.9

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:

53
Neoplasia:
lymphoma
astrocytoma
rhabdomyosarcoma
neuroblastoma
medulloblastoma
more
NeurologicCentralNervousSystem:
agenesis of the corpus callosum (in some patients)
gray matter heterotopia (in some patients)
intracerebral cysts (in some patients)

SkinNailsHairSkin:
cafe-au-lait spots
axillary freckling
hyperpigmented spots

AbdomenGastrointestinal:
adenomatous colonic polyps


Clinical features from OMIM:

276300

Human phenotypes related to Mismatch Repair Cancer Syndrome:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
2 lymphoma 31 HP:0002665
3 astrocytoma 31 HP:0009592
4 hypermelanotic macule 31 HP:0001034
5 rhabdomyosarcoma 31 HP:0002859
6 neuroblastoma 31 HP:0003006
7 cafe-au-lait spot 31 HP:0000957
8 medulloblastoma 31 HP:0002885
9 leukemia 31 HP:0001909
10 basal cell carcinoma 31 HP:0002671
11 ependymoma 31 HP:0002888
12 glioblastoma multiforme 31 HP:0012174
13 axillary freckling 31 HP:0000997
14 abnormality of abdomen morphology 31 HP:0001438

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

25 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.02 CTNNB1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-113 10.02 CTNNB1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.02 MLH1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-130 10.02 MLH1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.02 APC
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.02 MLH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.02 APC CTNNB1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.02 APC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.02 CTNNB1
10 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.02 APC
11 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.02 APC
12 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.02 CTNNB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.02 APC CTNNB1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-67 10.02 CTNNB1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.02 CTNNB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.02 MLH1 APC CTNNB1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.02 MLH1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.02 CTNNB1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-88 10.02 MLH1
20 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:

43 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 MSH2 MSH6 MYCN PAX3 PMS2 PTEN
2 homeostasis/metabolism MP:0005376 10.15 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
3 digestive/alimentary MP:0005381 10.14 APC CTNNB1 MLH1 MSH2 MYCN PAX3
4 mortality/aging MP:0010768 10.06 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
5 hematopoietic system MP:0005397 10.05 PAX3 PMS2 PTEN APC CTNNB1 MSH2
6 integument MP:0010771 10.02 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
7 neoplasm MP:0002006 10.02 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
8 endocrine/exocrine gland MP:0005379 10 APC CTNNB1 MLH1 PAX3 PMS2 PTEN
9 liver/biliary system MP:0005370 9.91 APC CTNNB1 MYCN PAX3 PMS2 PTEN
10 limbs/digits/tail MP:0005371 9.85 APC CTNNB1 MYCN PAX3 PTEN
11 renal/urinary system MP:0005367 9.65 APC CTNNB1 MYCN PAX3 PTEN
12 reproductive system MP:0005389 9.63 APC CTNNB1 MLH1 MYCN PMS2 PTEN
13 pigmentation MP:0001186 9.62 APC CTNNB1 PAX3 PTEN
14 respiratory system MP:0005388 9.35 CTNNB1 MLH1 MYCN PAX3 PTEN
15 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 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Capecitabine Approved, Investigational Phase 3,Phase 2 154361-50-9 60953
2
Fluorouracil Approved Phase 3,Phase 2 51-21-8 3385
3
Bevacizumab Approved, Investigational Phase 3,Phase 2 216974-75-3
4
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
5
Nicotine Approved Phase 3 54-11-5 89594 942
6
Oxaliplatin Approved, Investigational Phase 3,Phase 2 61825-94-3 43805 6857599 5310940 9887054
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
8
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 143 6006
9 Antimetabolites Phase 3,Phase 2
10 Antimetabolites, Antineoplastic Phase 3,Phase 2
11 Immunosuppressive Agents Phase 3,Phase 2
12 Angiogenesis Inhibitors Phase 3,Phase 2
13 Angiogenesis Modulating Agents Phase 3,Phase 2
14 Antibodies Phase 3,Phase 1,Phase 2
15 Antibodies, Monoclonal Phase 3,Phase 1,Phase 2
16 Antidotes Phase 3
17 Bone Density Conservation Agents Phase 3
18 Calcium, Dietary Phase 3
19 Endothelial Growth Factors Phase 3
20 Hematinics Phase 3
21 Immunoglobulins Phase 3,Phase 1,Phase 2
22 Micronutrients Phase 3
23 Mitogens Phase 3
24 Protective Agents Phase 3
25 Trace Elements Phase 3
26 Vitamin B Complex Phase 3
27 Vitamins Phase 3
28 Cola Nutraceutical Phase 3
29 Folate Nutraceutical Phase 3
30 Vitamin B9 Nutraceutical Phase 3
31
nivolumab Approved Phase 1, Phase 2 946414-94-4
32
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
33
Pancrelipase Approved, Investigational Phase 2 53608-75-6
34
Pembrolizumab Approved Phase 2,Phase 1 1374853-91-4
35
Adenosine Approved, Investigational Phase 2 58-61-7 60961
36
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
37
Dabrafenib Approved, Investigational Phase 2 44462760 44516822
38
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
39
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
40
Osimertinib Approved Phase 2 1421373-65-0 71496458
41
Palbociclib Approved, Investigational Phase 2 571190-30-2 5330286 11431660 5005498
42
Pertuzumab Approved Phase 2 380610-27-5, 145040-37-5 2540
43 Racepinephrine Approved Phase 2 329-65-7
44
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
45
Trametinib Approved Phase 2 871700-17-3 11707110
46
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
47 pancreatin Phase 2
48 Vaccines Phase 2
49 Ado-trastuzumab emtansine Phase 2
50 Antimitotic Agents Phase 2

Interventional clinical trials:

(show all 11)

# 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 NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma 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 Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, or Hypermutated Brain Tumors Recruiting NCT02359565 Phase 1
8 SYNERGY-AI: Artificial Intelligence Based Precision Oncology Clinical Trial Matching and Registry Recruiting NCT03452774
9 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
10 Study of Changes and Characteristics of Genes in Patients With Pancreatic Cancer for Better Treatment Selection Recruiting NCT02750657
11 Phenotyping of Small Bowel Adenocarcinoma Active, not recruiting NCT02976090

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 28 MLH1 MSH2 MSH6 PMS2

Anatomical Context for Mismatch Repair Cancer Syndrome

MalaCards organs/tissues related to Mismatch Repair Cancer Syndrome:

38
Brain, Colon, Skin, Bone, Testes, Endothelial

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
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. ( 23483711 )
2013
4
A Novel APC Gene Mutation Associated With a Severe Phenotype in a Patient With Turcot Syndrome. ( 24309598 )
2013
5
Turcot syndrome: a synchronous clinical presentation of glioblastoma multiforme and adenocarcinoma of the colon. ( 23119205 )
2012
6
Muir-Torre Syndrome / Turcot Syndrome overlap? A patient with sebaceous carcinoma, colon cancer, and a malignant astrocytoma. ( 22630573 )
2012
7
Turcot syndrome: a case report in an unsuspected setting. ( 21959784 )
2012
8
Turcot syndrome type 2: medulloblastoma with multiple colorectal adenomas. ( 22732270 )
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
A homozygote splice site PMS2 mutation as cause of Turcot syndrome gives rise to two different abnormal transcripts. ( 19039682 )
2009
12
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. ( 19156169 )
2009
13
Anaplastic oligoastrocytoma in Turcot syndrome. ( 19495563 )
2009
14
Turcot syndrome (glioma polyposis): a case report. ( 19005436 )
2008
15
Turcot syndrome confirmed with molecular analysis. ( 17389002 )
2007
16
Malignant transformation of high-grade astrocytoma associated with neurocysticercosis in a patient with Turcot syndrome. ( 17138070 )
2007
17
A homozygous mutation in MSH6 causes Turcot syndrome. ( 16000562 )
2005
18
Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. ( 16144131 )
2005
19
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
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
Medulloblastoma and glioblastoma multiforme in a patient with Turcot syndrome: a case report. ( 9508118 )
1998
28
Pineoblastoma presenting in familial adenomatous polyposis (FAP): random association, FAP variant or Turcot syndrome? ( 10070471 )
1998
29
Ovarian neoplasm and endometrioid carcinoma in a patient with Turcot syndrome. ( 9252914 )
1997
30
Turcot syndrome: case report and nosological aspects. ( 9505220 )
1997
31
Drastic genetic instability of tumors and normal tissues in Turcot syndrome. ( 9419979 )
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
The Turcot syndrome (glioma polyposis) and its neurosurgical significance. Case report. ( 8127448 )
1993
36
[Turcot syndrome--a rare extra-intestinal manifestation of familial adenomatous polyposis?]. ( 8390092 )
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 and its characteristic colonic manifestations. ( 4006635 )
1985
42
Turcot syndrome (glioma polyposis). Case report. ( 4056888 )
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:

71
# 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 all 31)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSH6 MSH6, TRP1024TER undetermined variant Pathogenic
2 MSH6 MSH6, 3-BP DEL, NT3609 deletion Pathogenic
3 MSH6 NM_000179.2(MSH6): c.3633dupT (p.Val1212Cysfs) duplication Pathogenic rs587776706 GRCh37 Chromosome 2, 48032833: 48032833
4 MSH6 MSH6, 1-BP INS, 1596T insertion Pathogenic
5 MSH6 MSH6, 1-BP DEL, 3261C deletion Pathogenic
6 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh37 Chromosome 7, 6042221: 6042221
7 PMS2 NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs) deletion Pathogenic rs587776715 GRCh37 Chromosome 7, 6027175: 6027175
8 PMS2 NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh37 Chromosome 7, 6017260: 6017260
9 PMS2 NM_000535.6(PMS2): c.1731_1732delGCinsAGT (p.Arg578Valfs) indel Pathogenic rs1057515572 GRCh38 Chromosome 7, 5987033: 5987034
10 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh37 Chromosome 7, 6045549: 6045549
11 PMS2 NM_000535.6(PMS2): c.219T> A (p.Cys73Ter) single nucleotide variant Pathogenic rs121434630 GRCh37 Chromosome 7, 6043634: 6043634
12 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh37 Chromosome 3, 37089130: 37089132
13 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh37 Chromosome 3, 37053589: 37053589
14 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh37 Chromosome 3, 37038192: 37038192
15 MLH1 MLH1, EX16DEL deletion Pathogenic
16 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh37 Chromosome 3, 37090053: 37090053
17 MLH1 MLH1, 2-BP DEL, 593AG deletion Pathogenic
18 MLH1 NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn) indel Pathogenic rs121912965 GRCh37 Chromosome 3, 37035142: 37035143
19 MSH6 NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs) deletion Pathogenic rs267608092 GRCh37 Chromosome 2, 48030697: 48030698
20 MLH1 NM_000249.3(MLH1): c.1943C> T (p.Pro648Leu) single nucleotide variant Pathogenic rs63750610 GRCh37 Chromosome 3, 37090054: 37090054
21 MSH2 NM_000251.2(MSH2): c.1662-1G> A single nucleotide variant Pathogenic rs267607970 GRCh37 Chromosome 2, 47698103: 47698103
22 PMS2 NM_000535.6(PMS2): c.1145-?_2445+?del deletion Pathogenic
23 PMS2 NM_000535.6(PMS2): c.1169_1170ins20 (p.?) insertion Pathogenic rs587779327 GRCh37 Chromosome 7, 6027226: 6027227
24 PMS2 NM_000535.6(PMS2): c.1306dupA (p.Ser436Lysfs) duplication Pathogenic rs63750106 GRCh37 Chromosome 7, 6027090: 6027090
25 PMS2 NM_000535.6(PMS2): c.182delA (p.Tyr61Leufs) deletion Pathogenic rs63750793 GRCh37 Chromosome 7, 6043671: 6043671
26 PMS2 NM_000535.6(PMS2): c.1927C> T (p.Gln643Ter) single nucleotide variant Pathogenic rs63751422 GRCh37 Chromosome 7, 6026469: 6026469
27 PMS2 NM_000535.6(PMS2): c.2361_2364delCTTC (p.Phe788Cysfs) deletion Pathogenic rs267608160 GRCh37 Chromosome 7, 6017300: 6017303
28 MSH6 NM_000179.2(MSH6): c.10C> T (p.Gln4Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201042 GRCh37 Chromosome 2, 48010382: 48010382
29 PMS2 NM_000535.6(PMS2): c.2002A> G (p.Ile668Val) single nucleotide variant Pathogenic rs869320619 GRCh37 Chromosome 7, 6026394: 6026394
30 MSH2 MSH2, EX1-6 DEL deletion Pathogenic
31 MSH2 NM_000251.2(MSH2): c.454delA (p.Met152Cysfs) deletion Pathogenic rs63751449 GRCh37 Chromosome 2, 47637320: 47637320

Cosmic variations for Mismatch Repair Cancer Syndrome:

9 (show top 50) (show all 2138)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM40802 ZW10 central nervous system,brain,glioma,glioblastoma multiforme c.2140C>T p.P714S 11
2 COSM40801 ZSWIM4 central nervous system,brain,glioma,glioblastoma multiforme c.266C>T p.P89L 11
3 COSM39611 ZPLD1 central nervous system,brain,glioma,glioblastoma multiforme c.393A>T p.G131G 11
4 COSM40237 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.3651C>T p.T1217T 11
5 COSM39318 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.2044T>A p.C682S 11
6 COSM39317 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.2043G>C p.Q681H 11
7 COSM39149 ZNF507 central nervous system,brain,glioma,glioblastoma multiforme c.1517G>C p.R506T 11
8 COSM40794 ZNF473 central nervous system,brain,glioma,glioblastoma multiforme c.42C>T p.D14D 11
9 COSM39217 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2162T>G p.V721G 11
10 COSM40504 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2176G>A p.D726N 11
11 COSM39507 ZMAT4 central nervous system,brain,glioma,glioblastoma multiforme c.76G>A p.E26K 11
12 COSM40870 ZFC3H1 central nervous system,brain,glioma,glioblastoma multiforme c.1055G>A p.S352N 11
13 COSM40793 ZFAT central nervous system,brain,glioma,glioblastoma multiforme c.1006G>A p.V336M 11
14 COSM40680 ZEB1 central nervous system,brain,glioma,glioblastoma multiforme c.1913C>T p.S638L 11
15 COSM41152 ZC3H6 central nervous system,brain,glioma,glioblastoma multiforme c.2254G>T p.G752* 11
16 COSM40778 ZBTB4 central nervous system,brain,glioma,glioblastoma multiforme c.2842C>T p.L948F 11
17 COSM40777 ZBTB24 central nervous system,brain,glioma,glioblastoma multiforme c.1886C>T p.P629L 11
18 COSM39508 ZBTB21 central nervous system,brain,glioma,glioblastoma multiforme c.997G>A p.G333S 11
19 COSM40776 ZBTB16 central nervous system,brain,glioma,glioblastoma multiforme c.413C>T p.A138V 11
20 COSM41039 YWHAH central nervous system,brain,glioma,glioblastoma multiforme c.169C>T p.R57* 11
21 COSM40774 YTHDC2 central nervous system,brain,glioma,glioblastoma multiforme c.782C>T p.A261V 11
22 COSM39272 XPO7 central nervous system,brain,glioma,glioblastoma multiforme c.1157G>A p.R386Q 11
23 COSM40772 XPO1 central nervous system,brain,glioma,glioblastoma multiforme c.1147G>A p.E383K 11
24 COSM21780 XAB2 central nervous system,brain,glioma,glioblastoma multiforme c.849C>A p.I283I 11
25 COSM39469 WNK2 central nervous system,brain,glioma,glioblastoma multiforme c.3757G>A p.A1253T 11
26 COSM40770 WNK1 central nervous system,brain,glioma,glioblastoma multiforme c.5293G>A p.G1765S 11
27 COSM40769 WFS1 central nervous system,brain,glioma,glioblastoma multiforme c.573G>A p.K191K 11
28 COSM40767 WEE1 central nervous system,brain,glioma,glioblastoma multiforme c.765G>A p.K255K 11
29 COSM40766 WDTC1 central nervous system,brain,glioma,glioblastoma multiforme c.1118C>T p.A373V 11
30 COSM40765 WDR70 central nervous system,brain,glioma,glioblastoma multiforme c.463G>A p.E155K 11
31 COSM40764 WDR6 central nervous system,brain,glioma,glioblastoma multiforme c.1170C>T p.F390F 11
32 COSM40761 WDR34 central nervous system,brain,glioma,glioblastoma multiforme c.1484C>T p.T495I 11
33 COSM40762 WDR34 central nervous system,brain,glioma,glioblastoma multiforme c.475G>A p.A159T 11
34 COSM39468 WDR24 central nervous system,brain,glioma,glioblastoma multiforme c.790C>T p.R264C 11
35 COSM40758 WDFY3 central nervous system,brain,glioma,glioblastoma multiforme c.1126C>T p.H376Y 11
36 COSM39888 WBP1L central nervous system,brain,glioma,glioblastoma multiforme c.490C>T p.P164S 11
37 COSM40234 WASHC4 central nervous system,brain,glioma,glioblastoma multiforme c.367+1G>A p.? 11
38 COSM40754 VPS45 central nervous system,brain,glioma,glioblastoma multiforme c.370G>A p.E124K 11
39 COSM40753 VPS41 central nervous system,brain,glioma,glioblastoma multiforme c.1830G>A p.Q610Q 11
40 COSM39977 VPS13B central nervous system,brain,glioma,glioblastoma multiforme c.1913C>T p.T638I 11
41 COSM41129 VPS13B central nervous system,brain,glioma,glioblastoma multiforme c.9845A>C p.K3282T 11
42 COSM40751 VPS13A central nervous system,brain,glioma,glioblastoma multiforme c.7400G>A p.G2467D 11
43 COSM40750 VN2R1P central nervous system,brain,glioma,glioblastoma multiforme c.1753C>T p.P585S 11
44 COSM40748 VIPR2 central nervous system,brain,glioma,glioblastoma multiforme c.598G>A p.V200M 11
45 COSM39478 VIPAS39 central nervous system,brain,glioma,glioblastoma multiforme c.1200G>C p.K400N 11
46 COSM6506659 VHL central nervous system,brain,glioma,glioblastoma multiforme c.385C>G p.L129V 11
47 COSM39246 VEGFD central nervous system,brain,glioma,glioblastoma multiforme c.694A>G p.K232E 11
48 COSM40746 VDR central nervous system,brain,glioma,glioblastoma multiforme c.1135C>T p.L379F 11
49 COSM40744 VCPIP1 central nervous system,brain,glioma,glioblastoma multiforme c.3601G>A p.E1201K 11
50 COSM40745 VCL central nervous system,brain,glioma,glioblastoma multiforme c.1369C>T p.P457S 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:

36
# 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
12.73 APC CTNNB1 MLH1 MSH2 MSH6 PTEN
2
Show member pathways
12.71 MLH1 MSH2 PMS2 PTEN
3 12.52 APC CTNNB1 MLH1 MSH2 MSH6 PTEN
4
Show member pathways
12.5 APC CTNNB1 MLH1 PTEN
5 11.99 APC CTNNB1 PAX3
6 11.89 CTNNB1 MSH2 MSH6 PTEN
7 11.87 APC CTNNB1 MLH1 MSH2 MSH6
8 11.81 MLH1 MSH2 PTEN
9 11.73 APC CTNNB1 PTEN
10 11.7 APC CTNNB1 PTEN
11 11.67 APC MLH1 MSH2 PMS2 PTEN
12 11.5 MLH1 MSH2 MSH6
13 11.27 MSH2 MSH6 PTEN
14
Show member pathways
11.25 MLH1 MSH2
15 11.23 APC CTNNB1
16
Show member pathways
11.19 MLH1 MSH2
17 11.14 APC PTEN
18 11.04 APC CTNNB1
19
Show member pathways
11.01 MLH1 MSH2 MSH6 PMS1 PMS2
20 10.93 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 beta-catenin destruction complex GO:0030877 9.43 APC CTNNB1
4 catenin complex GO:0016342 9.4 APC CTNNB1
5 Wnt signalosome GO:1990909 9.37 APC CTNNB1
6 mismatch repair complex GO:0032300 9.16 MLH1 MSH2
7 MutSalpha complex GO:0032301 8.96 MSH2 MSH6
8 MutLalpha complex GO:0032389 8.8 MLH1 PMS1 PMS2

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

(show all 18)
# 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 9.7 APC CTNNB1 PTEN
5 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MLH1 MSH2 MSH6
6 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 CTNNB1 MYCN
7 beta-catenin destruction complex disassembly GO:1904886 9.57 APC CTNNB1
8 determination of adult lifespan GO:0008340 9.56 MSH2 MSH6
9 positive regulation of isotype switching to IgG isotypes GO:0048304 9.55 MLH1 MSH2
10 positive regulation of helicase activity GO:0051096 9.51 MSH2 MSH6
11 isotype switching GO:0045190 9.5 MLH1 MSH2 MSH6
12 negative regulation of DNA recombination GO:0045910 9.49 MSH2 MSH6
13 maintenance of DNA repeat elements GO:0043570 9.48 MSH2 MSH6
14 positive regulation of isotype switching to IgA isotypes GO:0048298 9.46 MLH1 MSH2
15 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MLH1 MSH2
16 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
17 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
18 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 9.8 APC CTNNB1 MSH2 PTEN
2 magnesium ion binding GO:0000287 9.7 MSH2 MSH6 PTEN
3 double-stranded DNA binding GO:0003690 9.65 CTNNB1 MSH2 MSH6
4 DNA-dependent ATPase activity GO:0008094 9.56 MSH2 MSH6
5 single-stranded DNA binding GO:0003697 9.56 MLH1 MSH2 PMS1 PMS2
6 ATPase activity GO:0016887 9.55 MLH1 MSH2 MSH6 PMS1 PMS2
7 ADP binding GO:0043531 9.54 MSH2 MSH6
8 four-way junction DNA binding GO:0000400 9.51 MSH2 MSH6
9 oxidized purine DNA binding GO:0032357 9.46 MSH2 MSH6
10 MutLalpha complex binding GO:0032405 9.43 MSH2 MSH6
11 MutSalpha complex binding GO:0032407 9.4 MLH1 PMS2
12 single guanine insertion binding GO:0032142 9.37 MSH2 MSH6
13 single thymine insertion binding GO:0032143 9.32 MSH2 MSH6
14 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
15 mismatched DNA binding GO:0030983 9.02 MLH1 MSH2 MSH6 PMS1 PMS2
16 DNA binding GO:0003677 10.02 CTNNB1 MSH2 MSH6 MYCN PMS1 PMS2

Sources for Mismatch Repair Cancer Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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