MMRCS
MCID: MSM014
MIFTS: 57

Mismatch Repair Cancer Syndrome (MMRCS) malady

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

Aliases & Classifications for Mismatch Repair Cancer Syndrome

Aliases & Descriptions for Mismatch Repair Cancer Syndrome:

Name: Mismatch Repair Cancer Syndrome 54 50 66 13
Turcot Syndrome 50 24 66 29 52 69
Constitutional Mismatch Repair Deficiency Syndrome 56 66
Mismatch Repair Deficiency 50 66
Mmr Deficiency 50 66
Mmrcs 50 66
Malignant Tumors of the Central Nervous System Associated with Familial Polyposis of the Colon 50
Cns Tumors with Familial Polyposis of the Colon 50
Adenomatous Polyposis Coli with Cns Tumors 24
Brain Tumor-Polyposis Syndrome 1 66
Brain Tumor-Polyposis Syndrome 50
Malignant Childhood Neoplasm 69
Glioma-Polyposis Syndrome 50
Childhood Cancer Syndrome 66
Childhood Cancer 52
Cmmr-D Syndrome 56
Btp1 Syndrome 66
Cmmrds 66
Btps1 66

Characteristics:

Orphanet epidemiological data:

56
constitutional mismatch repair deficiency syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

32
mismatch repair cancer syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 276300
Orphanet 56 ORPHA252202
MedGen 40 C0265325
MeSH 42 D009386

Summaries for Mismatch Repair Cancer Syndrome

OMIM : 54 Constitutional mismatch repair deficiency is a rare childhood cancer predisposition syndrome with 4 main tumor types:... (276300) more...

MalaCards based summary : Mismatch Repair Cancer Syndrome, also known as turcot syndrome, is related to colorectal cancer and retinoblastoma, and has symptoms including agenesis of corpus callosum, lymphoma and hypermelanotic macule. 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 Regulation of TP53 Activity and Pathways in cancer. The drugs Capecitabine and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include colon, brain and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

NIH Rare Diseases : 50 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 : 66 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 : 71 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 79)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 29.3 APC CTNNB1 MLH1 MSH2 MSH6 PMS1
2 retinoblastoma 11.4
3 adenomatous polyposis coli 11.3
4 mlh1-related turcot syndrome 11.1
5 msh2-related turcot syndrome 11.1
6 msh6-related turcot syndrome 11.1
7 pms2-related turcot syndrome 11.1
8 glioma susceptibility 1 11.1
9 neurofibromatosis, type 1 11.1
10 childhood leukemia 11.0
11 neuroblastoma 10.9
12 adrenal carcinoma 10.7
13 beckwith-wiedemann syndrome 10.7
14 brain tumor, childhood 10.5
15 li-fraumeni syndrome 10.5
16 cask-related disorders 10.3 MSH6 PMS2
17 skin melanoma 10.2 MLH1 MSH2
18 htr2a-related altered drug metabolism 10.2 APC MLH1
19 aorta atresia 10.2 MLH1 MSH2
20 hereditary sensory and autonomic neuropathy with deafness and global delay 10.2 APC MLH1
21 trypanosomiasis 10.2 MLH1 MSH6
22 endometrial squamous cell carcinoma 10.2 APC MLH1
23 factor xiii deficiency 10.2 MSH2 PMS1
24 bacteremia 10.2 MSH6 PMS2
25 lynch syndrome 10.2
26 macular degeneration, early-onset 10.1 APC CTNNB1
27 neurocutaneous melanosis, somatic 10.1 MLH1 MSH2
28 papilloma 10.1 CTNNB1 MLH1
29 benign fibrous mesothelioma 10.1 MLH1 MSH2 MSH6
30 neuroretinitis 10.1 MLH1 MSH2 MSH6
31 skin papilloma 10.1 MLH1 MSH2 MSH6
32 dfnb1 10.1 APC CTNNB1
33 cardiomyopathy, dilated, 1r 10.1 MSH2 MSH6
34 bronchogenic cyst 10.1 APC PTEN
35 diabetes mellitus, noninsulin-dependent, 2 10.1 APC CTNNB1
36 familial hypopituitarism 10.1 APC MLH1 MSH2
37 bronchiectasis oligospermia 10.1 APC PTEN
38 autoimmune autonomic ganglionopathy 10.1 APC MSH2 MSH6
39 fibrolamellar carcinoma 10.1 CTNNB1 MLH1 MSH2
40 collecting duct carcinoma 10.0 MLH1 MSH2 PAX3
41 breast ductal carcinoma 10.0 CTNNB1 PTEN
42 congenital symblepharon 10.0 CTNNB1 MLH1 MSH2
43 oral squamous cell carcinoma 10.0 CTNNB1 MLH1 MSH2
44 large intestine adenoma 10.0 MLH1 MSH2 MSH6 PMS2
45 neuropathy, distal hereditary motor, type viib 10.0 MLH1 MSH2 MSH6 PMS2
46 neurofibromatosis-noonan syndrome 10.0 MLH1 MSH2 MSH6 PMS2
47 wolffian duct adenoma 10.0 MLH1 MSH2 MSH6 PMS2
48 adult syndrome 10.0 CTNNB1 PTEN
49 wagr syndrome 10.0 CTNNB1 MLH1 MSH2
50 seborrheic dermatitis 10.0 MLH1 MSH2 MSH6 PMS2

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 by clinical synopsis from OMIM:

276300

Clinical features from OMIM:

276300

Human phenotypes related to Mismatch Repair Cancer Syndrome:

32 (show all 13)
id Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 HP:0001274
2 lymphoma 32 HP:0002665
3 hypermelanotic macule 32 HP:0001034
4 neuroblastoma 32 HP:0003006
5 rhabdomyosarcoma 32 HP:0002859
6 medulloblastoma 32 HP:0002885
7 leukemia 32 HP:0001909
8 basal cell carcinoma 32 HP:0002671
9 cafe-au-lait spot 32 HP:0000957
10 ependymoma 32 HP:0002888
11 abnormality of abdomen morphology 32 HP:0001438
12 glioblastoma 32 HP:0100843
13 axillary freckling 32 HP:0000997

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

26
id 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:

44 (show all 15)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.2 MYCN PAX3 PMS2 PTEN APC CTNNB1
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 MSH2 MSH6 MYCN PAX3 PMS2 APC
5 hematopoietic system MP:0005397 10.05 APC CTNNB1 MSH2 MYCN PAX3 PMS2
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 70)
id 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
Oxaliplatin Approved, Investigational Phase 3,Phase 2 61825-94-3 5310940 9887054 6857599, 9887054 43805
4
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
5
Levoleucovorin Approved Phase 3 68538-85-2
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Phase 2 59-30-3 6037
7
leucovorin Approved, Nutraceutical Phase 3,Phase 2,Phase 1 58-05-9 54575, 6560146 143
8 Antimetabolites Phase 3,Phase 2,Phase 1
9 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
10 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
11 Analgesics Phase 3,Phase 1
12 Analgesics, Non-Narcotic Phase 3,Phase 1
13 Anti-Inflammatory Agents Phase 3,Phase 1
14 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 1
15 Antirheumatic Agents Phase 3,Phase 1,Phase 2
16 Cyclooxygenase Inhibitors Phase 3,Phase 1
17 Peripheral Nervous System Agents Phase 3,Phase 1
18 Antibodies Phase 3,Phase 1,Phase 2
19 Antibodies, Monoclonal Phase 3,Phase 1,Phase 2
20 Immunoglobulins Phase 3,Phase 1,Phase 2
21 Vitamin B Complex Phase 3,Phase 1,Phase 2
22 Antipyretics Phase 3
23 Fibrinolytic Agents Phase 3
24 Platelet Aggregation Inhibitors Phase 3
25 Antidotes Phase 3
26 Bone Density Conservation Agents Phase 3
27 Calcium, Dietary Phase 3
28 Hematinics Phase 3
29 Micronutrients Phase 3
30 Protective Agents Phase 3
31 Trace Elements Phase 3
32 Vitamins Phase 3
33 Acetylsalicylic acid lysinate Phase 3
34 Cola Nutraceutical Phase 3
35 Folate Nutraceutical Phase 3,Phase 1,Phase 2
36 Vitamin B9 Nutraceutical Phase 3,Phase 1,Phase 2
37
nivolumab Approved Phase 1, Phase 2 946414-94-4
38
Bevacizumab Approved, Investigational Phase 2 216974-75-3
39
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
40
Dabrafenib Approved Phase 2 44462760 44516822
41
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
42
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
43
Osimertinib Approved Phase 2 1421373-65-0 71496458
44
Palbociclib Approved Phase 2 571190-30-2 11431660 5005498 5330286
45
Pertuzumab Approved Phase 2 145040-37-5, 380610-27-5 2540
46
Sunitinib Approved, Investigational Phase 2 341031-54-7, 557795-19-4 5329102
47
Trametinib Approved Phase 2 871700-17-3 11707110
48
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
49
Methotrexate Approved Phase 1, Phase 2 1959-05-2, 59-05-2 126941
50
Thioguanine Approved Phase 1, Phase 2 154-42-7 2723601

Interventional clinical trials:

(show all 19)
id Name Status NCT ID Phase
1 Randomised Study Evaluating Adjuvant Chemotherapy After Resection of Stage III Colonic Adenocarcinoma in Patients of 70 and Over Recruiting NCT02355379 Phase 3
2 Finding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers Not yet recruiting NCT02497820 Phase 3
3 Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair or Microsatellite Instability Not yet recruiting NCT02912559 Phase 3
4 Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome Not yet recruiting NCT02813824 Phase 3
5 Pilot Study of Nivolumab in Pediatric Patients With Hypermutant Cancers Recruiting NCT02992964 Phase 1, Phase 2
6 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
7 NCI-MATCH: Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma Recruiting NCT02465060 Phase 2
8 Thiopurine EnhAnced Maintenance Therapy Recruiting NCT02912676 Phase 1, Phase 2
9 Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch Syndrome Recruiting NCT02052908 Phase 1
10 I-Scan For Colon Polyp Detection In HNPCC Unknown status NCT01823471
11 Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, or Hypermutated Brain Tumors Recruiting NCT02359565
12 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
13 Study of Changes and Characteristics of Genes in Patients With Pancreatic Cancer for Better Treatment Selection Recruiting NCT02750657
14 Familial Cancer Registry and DNA Bank Recruiting NCT02083224
15 Adherence to Colon Cancer Screening (ACCS) Recruiting NCT02112747
16 Phenotyping of Small Bowel Adenocarcinoma Active, not recruiting NCT02976090
17 Inherited Susceptible Genes Among Epithelial Ovarian Cancer Not yet recruiting NCT03015376
18 Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer Not yet recruiting NCT03047226
19 Biomarkers in Samples From Patients With Endometrial Cancer Not yet recruiting NCT01199250

Search NIH Clinical Center for Mismatch Repair Cancer Syndrome

Genetic Tests for Mismatch Repair Cancer Syndrome

Genetic tests related to Mismatch Repair Cancer Syndrome:

id Genetic test Affiliating Genes
1 Turcot Syndrome 29 24 PMS2

Anatomical Context for Mismatch Repair Cancer Syndrome

MalaCards organs/tissues related to Mismatch Repair Cancer Syndrome:

39
Colon, Brain, Skin

Publications for Mismatch Repair Cancer Syndrome

Articles related to Mismatch Repair Cancer Syndrome:

id Title Authors Year
1
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome. ( 23483711 )
2013

Variations for Mismatch Repair Cancer Syndrome

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

66
id 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
5 PMS2 p.Cys115Gly VAR_078522
6 PMS2 p.Ser815Leu VAR_078537

ClinVar genetic disease variations for Mismatch Repair Cancer Syndrome:

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

Cosmic variations for Mismatch Repair Cancer Syndrome:

9 (show top 50) (show all 2052)
id 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 10
2 COSM40801 ZSWIM4 central nervous system,brain,glioma,glioblastoma multiforme c.266C>T p.P89L 10
3 COSM39611 ZPLD1 central nervous system,brain,glioma,glioblastoma multiforme c.393A>T p.G131G 10
4 COSM39318 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.2044T>A p.C682S 10
5 COSM39317 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.2043G>C p.Q681H 10
6 COSM40237 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.3651C>T p.T1217T 10
7 COSM39149 ZNF507 central nervous system,brain,glioma,glioblastoma multiforme c.1517G>C p.R506T 10
8 COSM40794 ZNF473 central nervous system,brain,glioma,glioblastoma multiforme c.42C>T p.D14D 10
9 COSM39217 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2162T>G p.V721G 10
10 COSM40504 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2176G>A p.D726N 10
11 COSM39507 ZMAT4 central nervous system,brain,glioma,glioblastoma multiforme c.76G>A p.E26K 10
12 COSM40870 ZFC3H1 central nervous system,brain,glioma,glioblastoma multiforme c.1055G>A p.S352N 10
13 COSM40793 ZFAT central nervous system,brain,glioma,glioblastoma multiforme c.1006G>A p.V336M 10
14 COSM40680 ZEB1 central nervous system,brain,glioma,glioblastoma multiforme c.1913C>T p.S638L 10
15 COSM41152 ZC3H6 central nervous system,brain,glioma,glioblastoma multiforme c.2254G>T p.G752* 10
16 COSM40778 ZBTB4 central nervous system,brain,glioma,glioblastoma multiforme c.2842C>T p.L948F 10
17 COSM40777 ZBTB24 central nervous system,brain,glioma,glioblastoma multiforme c.1886C>T p.P629L 10
18 COSM39508 ZBTB21 central nervous system,brain,glioma,glioblastoma multiforme c.997G>A p.G333S 10
19 COSM40776 ZBTB16 central nervous system,brain,glioma,glioblastoma multiforme c.413C>T p.A138V 10
20 COSM41039 YWHAH central nervous system,brain,glioma,glioblastoma multiforme c.169C>T p.R57* 10
21 COSM40774 YTHDC2 central nervous system,brain,glioma,glioblastoma multiforme c.782C>T p.A261V 10
22 COSM39272 XPO7 central nervous system,brain,glioma,glioblastoma multiforme c.1157G>A p.R386Q 10
23 COSM40772 XPO1 central nervous system,brain,glioma,glioblastoma multiforme c.1147G>A p.E383K 10
24 COSM21780 XAB2 central nervous system,brain,glioma,glioblastoma multiforme c.849C>A p.I283I 10
25 COSM39469 WNK2 central nervous system,brain,glioma,glioblastoma multiforme c.3757G>A p.A1253T 10
26 COSM40770 WNK1 central nervous system,brain,glioma,glioblastoma multiforme c.5293G>A p.G1765S 10
27 COSM40769 WFS1 central nervous system,brain,glioma,glioblastoma multiforme c.573G>A p.K191K 10
28 COSM40767 WEE1 central nervous system,brain,glioma,glioblastoma multiforme c.765G>A p.K255K 10
29 COSM40766 WDTC1 central nervous system,brain,glioma,glioblastoma multiforme c.1118C>T p.A373V 10
30 COSM40765 WDR70 central nervous system,brain,glioma,glioblastoma multiforme c.463G>A p.E155K 10
31 COSM40764 WDR6 central nervous system,brain,glioma,glioblastoma multiforme c.1170C>T p.F390F 10
32 COSM40762 WDR34 central nervous system,brain,glioma,glioblastoma multiforme c.475G>A p.A159T 10
33 COSM40761 WDR34 central nervous system,brain,glioma,glioblastoma multiforme c.1484C>T p.T495I 10
34 COSM39468 WDR24 central nervous system,brain,glioma,glioblastoma multiforme c.790C>T p.R264C 10
35 COSM40758 WDFY3 central nervous system,brain,glioma,glioblastoma multiforme c.1126C>T p.H376Y 10
36 COSM39888 WBP1L central nervous system,brain,glioma,glioblastoma multiforme c.490C>T p.P164S 10
37 COSM40234 WASHC4 central nervous system,brain,glioma,glioblastoma multiforme c.367+1G>A p.? 10
38 COSM40754 VPS45 central nervous system,brain,glioma,glioblastoma multiforme c.370G>A p.E124K 10
39 COSM40753 VPS41 central nervous system,brain,glioma,glioblastoma multiforme c.1830G>A p.Q610Q 10
40 COSM39977 VPS13B central nervous system,brain,glioma,glioblastoma multiforme c.1913C>T p.T638I 10
41 COSM41129 VPS13B central nervous system,brain,glioma,glioblastoma multiforme c.9845A>C p.K3282T 10
42 COSM40751 VPS13A central nervous system,brain,glioma,glioblastoma multiforme c.7400G>A p.G2467D 10
43 COSM40750 VN2R1P central nervous system,brain,glioma,glioblastoma multiforme c.1753C>T p.P585S 10
44 COSM40748 VIPR2 central nervous system,brain,glioma,glioblastoma multiforme c.598G>A p.V200M 10
45 COSM39478 VIPAS39 central nervous system,brain,glioma,glioblastoma multiforme c.1200G>C p.K400N 10
46 COSM39246 VEGFD central nervous system,brain,glioma,glioblastoma multiforme c.694A>G p.K232E 10
47 COSM40746 VDR central nervous system,brain,glioma,glioblastoma multiforme c.1135C>T p.L379F 10
48 COSM40744 VCPIP1 central nervous system,brain,glioma,glioblastoma multiforme c.3601G>A p.E1201K 10
49 COSM40745 VCL central nervous system,brain,glioma,glioblastoma multiforme c.1369C>T p.P457S 10
50 COSM40239 VAT1L central nervous system,brain,glioma,glioblastoma multiforme c.415G>A p.V139I 10

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 GeneCards Suite gene sharing:

(show all 20)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.7 MLH1 MSH2 PMS2 PTEN
2 12.44 APC CTNNB1 MLH1 MSH2 MSH6 PTEN
3 11.98 APC CTNNB1 PAX3
4 11.94 APC CTNNB1 MLH1 MSH2 MSH6
5 11.89 CTNNB1 MSH2 MSH6 PTEN
6 11.82 MLH1 MSH2 PTEN
7 11.78 APC MLH1 MSH2 PMS2 PTEN
8 11.73 APC CTNNB1 PTEN
9 11.7 APC CTNNB1 PTEN
10 11.5 MLH1 MSH2 MSH6
11
Show member pathways
11.45 APC CTNNB1 MLH1 MSH2 MSH6 PTEN
12
Show member pathways
11.34 MLH1 MSH2 MSH6 PMS1 PMS2
13 11.27 MSH2 MSH6 PTEN
14 11.22 APC CTNNB1
15
Show member pathways
11.19 MLH1 MSH2
16 11.14 APC PTEN
17 11.03 APC CTNNB1
18 10.92 APC CTNNB1
19 10.92 MLH1 MSH2 MSH6 PMS2
20 10.78 APC CTNNB1

GO Terms for Mismatch Repair Cancer Syndrome

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

id 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 Wnt signalosome GO:1990909 9.43 APC CTNNB1
4 beta-catenin destruction complex GO:0030877 9.4 APC CTNNB1
5 catenin complex GO:0016342 9.37 APC CTNNB1
6 mismatch repair complex GO:0032300 9.16 MSH2 PMS2
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 19)
id 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 cell death GO:0010942 9.58 APC MYCN
7 positive regulation of mesenchymal cell proliferation GO:0002053 9.58 CTNNB1 MYCN
8 beta-catenin destruction complex disassembly GO:1904886 9.57 APC CTNNB1
9 determination of adult lifespan GO:0008340 9.56 MSH2 MSH6
10 positive regulation of isotype switching to IgG isotypes GO:0048304 9.55 MLH1 MSH2
11 negative regulation of DNA recombination GO:0045910 9.51 MSH2 MSH6
12 isotype switching GO:0045190 9.5 MLH1 MSH2 MSH6
13 positive regulation of helicase activity GO:0051096 9.49 MSH2 MSH6
14 maintenance of DNA repeat elements GO:0043570 9.48 MSH2 MSH6
15 positive regulation of isotype switching to IgA isotypes GO:0048298 9.46 MLH1 MSH2
16 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MLH1 MSH2
17 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MLH1 MSH2 MSH6
18 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 MLH1 MSH2 MSH6 PMS2
19 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 15)
id 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 single-stranded DNA binding GO:0003697 9.56 MLH1 MSH2 PMS1 PMS2
5 ATPase activity GO:0016887 9.55 MLH1 MSH2 MSH6 PMS1 PMS2
6 ADP binding GO:0043531 9.54 MSH2 MSH6
7 four-way junction DNA binding GO:0000400 9.51 MSH2 MSH6
8 oxidized purine DNA binding GO:0032357 9.46 MSH2 MSH6
9 MutLalpha complex binding GO:0032405 9.43 MSH2 MSH6
10 MutSalpha complex binding GO:0032407 9.4 MLH1 PMS2
11 single guanine insertion binding GO:0032142 9.37 MSH2 MSH6
12 single thymine insertion binding GO:0032143 9.32 MSH2 MSH6
13 guanine/thymine mispair binding GO:0032137 9.13 MLH1 MSH2 MSH6
14 mismatched DNA binding GO:0030983 9.02 MLH1 MSH2 MSH6 PMS1 PMS2
15 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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