MMRCS
MCID: MSM014
MIFTS: 65

Mismatch Repair Cancer Syndrome (MMRCS)

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

Aliases & Classifications for Mismatch Repair Cancer Syndrome

MalaCards integrated aliases for Mismatch Repair Cancer Syndrome:

Name: Mismatch Repair Cancer Syndrome 57 53 74 13
Turcot Syndrome 57 75 53 74 29 55 6 72
Mismatch Repair Deficiency 57 53 74 37
Constitutional Mismatch Repair Deficiency Syndrome 57 59 74
Mmr Deficiency 57 53 74
Mmrcs 57 53 74
Brain Tumor-Polyposis Syndrome 1 57 74
Childhood Cancer Syndrome 57 74
Childhood Cancer 55 17
Btp1 Syndrome 57 74
Cmmrds 57 74
Btps1 57 74
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 72
Glioma-Polyposis Syndrome 53
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:



External Ids:

OMIM 57 276300
KEGG 37 H00876
MeSH 44 D009386
Orphanet 59 ORPHA252202
MedGen 42 C0265325
UMLS 72 C0265325 C0278704

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 polyposis syndrome, hereditary mixed, 1 and legius syndrome. 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 Ciprofloxacin and Progesterone 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 gray matter heterotopia

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.

KEGG : 37
Mismatch repair (MMR) deficiency is a condition associated with DNA mismatch repair mutations. MMR deficiency is correlated with hereditary non-polyposis colorectal cancer (HNPCC) and some forms of sporadic tumors. HNPCC also referred to as Lynch syndrome, is an autosomal-dominant-inherited disorder characterized by predisposition to colorectal cancer and extracolonic malignancies, frequent multiple primary tumors in the same patient, and early age of cancer onset. A clinical variant of Lynch syndrome, Muir-Torre syndrome (MTS) is characterized by the association between one or more visceral malignancies, with at least one sebaceous skin tumor or keratoacanthoma. Turcot syndrome is characterized by the concurrence of primary brain tumors and colon cancers and/or multiple colorectal adenomas.

UniProtKB/Swiss-Prot : 74 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 : 75 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 614)
# Related Disease Score Top Affiliating Genes
1 polyposis syndrome, hereditary mixed, 1 30.5 MLH1 APC
2 legius syndrome 30.2 MSH6 MSH2
3 familial colorectal cancer 30.2 MSH2 MLH1 APC
4 familial adenomatous polyposis 1 30.2 CTNNB1 APC
5 attenuated familial adenomatous polyposis 30.1 MSH6 MSH2 APC
6 desmoid tumor 30.1 CTNNB1 APC
7 colorectal adenocarcinoma 30.1 MSH6 MSH2 MLH1 CTNNB1
8 adenoma 29.7 MSH2 MLH1 CTNNB1 APC
9 endometrial adenocarcinoma 29.5 PTEN MLH1 CTNNB1
10 colorectal adenoma 29.5 MSH2 MLH1 CTNNB1 APC
11 lynch syndrome i 29.5 PMS2 PMS1 MSH6 MSH2 MLH1
12 colon adenocarcinoma 29.4 MSH6 MLH1 CTNNB1 APC
13 adenocarcinoma 29.3 PTEN MLH1 CTNNB1 APC
14 ulcerative colitis 29.1 MSH2 MLH1 CTNNB1
15 gastric adenocarcinoma 29.1 PTEN MLH1 CTNNB1 APC
16 familial adenomatous polyposis 29.0 MSH6 MSH2 MLH1 CTNNB1 APC
17 sebaceous adenocarcinoma 29.0 PMS2 PMS1 MSH6 MSH2 MLH1
18 muir-torre syndrome 29.0 PMS2 PMS1 MSH6 MSH2 MLH1
19 gastric cancer 28.9 PTEN MSH2 MLH1 CTNNB1 APC
20 rhabdomyosarcoma 28.6 PMS2 PAX3 MYCN MSH6 MSH2
21 ovarian cancer 28.3 PTEN PMS1 MSH6 MSH2 MLH1 CTNNB1
22 colonic disease 28.3 PMS2 PMS1 MSH6 MSH2 MLH1 CTNNB1
23 endometrial cancer 28.2 PTEN PMS2 MSH6 MSH2 MLH1 CTNNB1
24 lynch syndrome 27.8 PMS2 PMS1 MSH6 MSH2 MLH1 CTNNB1
25 medulloblastoma 27.6 PTEN PAX3 MYCN CTNNB1 APC
26 brain cancer 27.3 PTEN PMS2 MYCN MSH6 MSH2 CTNNB1
27 colorectal cancer 27.2 PTEN PMS2 PMS1 MSH6 MSH2 MLH1
28 glioma susceptibility 1 11.4
29 neurofibromatosis, type i 11.4
30 beckwith-wiedemann syndrome 11.4
31 adrenal carcinoma 11.4
32 mosaic variegated aneuploidy syndrome 11.2
33 costello syndrome 10.9
34 wilms tumor 5 10.6
35 spindle cell intraocular melanoma 10.5 PMS2 MLH1
36 neurofibromatosis, type iv, of riccardi 10.5
37 colorectal cancer, hereditary nonpolyposis, type 7 10.4 MSH2 MLH1
38 lower lip cancer 10.4 MSH2 MLH1
39 colorectal cancer 5 10.4 MSH6 MLH1
40 anal fistula 10.4 MSH2 MLH1
41 glioblastoma multiforme 10.4
42 glioblastoma 10.4
43 lung disease 10.4
44 gastric leiomyoma 10.4 MSH6 MLH1
45 hepatoblastoma 10.4
46 wilms tumor 1 10.3
47 acute leukemia 10.3
48 infertility 10.3
49 anal squamous cell carcinoma 10.3 MLH1 APC
50 childhood acute lymphocytic leukemia 10.3

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

Human phenotypes related to Mismatch Repair Cancer Syndrome:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 32 occasional (7.5%) HP:0001274
2 gray matter heterotopia 32 occasional (7.5%) HP:0002282
3 hypermelanotic macule 32 HP:0001034
4 leukemia 32 HP:0001909
5 lymphoma 32 HP:0002665
6 rhabdomyosarcoma 32 HP:0002859
7 astrocytoma 32 HP:0009592
8 neuroblastoma 32 HP:0003006
9 basal cell carcinoma 32 HP:0002671
10 cafe-au-lait spot 32 HP:0000957
11 medulloblastoma 32 HP:0002885
12 ependymoma 32 HP:0002888
13 glioblastoma multiforme 32 HP:0012174
14 abnormality of abdomen morphology 32 HP:0001438
15 axillary freckling 32 HP:0000997

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
leukemia
lymphoma
rhabdomyosarcoma
astrocytoma
neuroblastoma
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:
axillary freckling
cafe-au-lait spots
hyperpigmented spots

Abdomen Gastrointestinal:
adenomatous colonic polyps

Clinical features from OMIM:

276300

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.02 MLH1 MSH2 MSH6 PMS1 PMS2

MGI Mouse Phenotypes related to Mismatch Repair Cancer Syndrome:

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

Drugs & Therapeutics for Mismatch Repair Cancer Syndrome

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

(show top 50) (show all 194)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
2
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
3
Norethindrone Approved Phase 4 68-22-4 6230
4
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
5
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
6
Polyestradiol phosphate Approved Phase 4 28014-46-2
7
Lactitol Investigational Phase 4 585-86-4, 585-88-6 493591
8 Cytochrome P-450 Enzyme Inhibitors Phase 4
9 Cytochrome P-450 CYP1A2 Inhibitors Phase 4
10 Estrogens Phase 4
11 Contraceptives, Oral Phase 4
12 Contraceptive Agents Phase 4
13 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
14 Norinyl Phase 4
15 Norethindrone Acetate Phase 4
16 Estradiol 17 beta-cypionate Phase 4
17 Estradiol 3-benzoate Phase 4
18 Progestins Phase 4
19
Alendronate Approved Phase 3 66376-36-1, 121268-17-5 2088
20
Fusidic Acid Approved, Investigational Phase 3 6990-06-3 3000226
21
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
22
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
23
Enalaprilat Approved Phase 3 76420-72-9 6917719
24
Nicotine Approved Phase 3 54-11-5 942 89594
25
Varenicline Approved, Investigational Phase 3 249296-44-4 5310966
26
Fluorouracil Approved Phase 3 51-21-8 3385
27
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
28
Captopril Approved Phase 3 62571-86-2 44093
29
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
30
Etoposide Approved Phase 3 33419-42-0 36462
31
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
32
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
33
Topotecan Approved, Investigational Phase 3 123948-87-8, 119413-54-6 60700
34
Mesna Approved, Investigational Phase 3 3375-50-6 598
35
Lenograstim Approved, Investigational Phase 3 135968-09-1
36
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
37
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
38
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
39
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
40
Maleic acid Experimental, Investigational Phase 3 110-17-8, 110-16-7 444972
41 Cyclooxygenase Inhibitors Phase 3
42 Cyclooxygenase 2 Inhibitors Phase 3
43 Anti-Inflammatory Agents, Non-Steroidal Phase 3
44 Antioxidants Phase 3
45 Protective Agents Phase 3
46 Pyridostigmine Bromide Phase 3 101-26-8
47 Cholinergic Agents Phase 3
48 Nicotinic Agonists Phase 3
49 Cola Phase 3
50 Antimetabolites Phase 3

Interventional clinical trials:

(show top 50) (show all 261)
# Name Status NCT ID Phase Drugs
1 Validation of Central Venous (Port A Cath®) Blood Draws for Ciprofloxacin Pharmacokinetic Research in Patients Under Treatment for Childhood Cancer Unknown status NCT02967341 Phase 4
2 Comparison of Standard and Physiologic Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure and the Assessment of Skeletal, Cardiovascular and Reproductive Parameters Completed NCT00732693 Phase 4 Ethinylestradiol / Norethisterone;Estradiol / Progesterone
3 Learning Impairments Among Survivors of Childhood Cancer Completed NCT00576472 Phase 4 Methylphenidate
4 The Effects of Ondansetron on Myocardial Repolarization in Children Receiving Chemotherapy Withdrawn NCT01896440 Phase 4 Ondansetron
5 Randomized Controlled Study on the Benefits and Safety of Bisphosphonate Treatment in Childhood Cancer Survivors Unknown status NCT00391404 Phase 3 Alendronate;Placebo
6 Topical Treatment With Glucocorticoids to Prevent Hypertrophic Scars and Keloid Due to Central Venous Access in Children Unknown status NCT01113125 Phase 3 Betamethason-17-valerate and fusidic acid;Fusidic Acid
7 Low Dose Chemotherapy (Metronomic Therapy) Versus Best Supportive Care in Progressive and/or Refractory Pediatric Malignancies: a Double Blind Placebo Controlled Randomized Study Completed NCT01858571 Phase 3 Low dose chemotherapy
8 Maternal Problem-Solving in Childhood Cancer Completed NCT00234793 Phase 3
9 Afterload Reduction Therapy for Late Anthracycline Cardiotoxicity: A Pediatric Oncology Group Cancer Control Study Completed NCT00003070 Phase 3 enalapril maleate
10 Melatonin Intervention For Neurocognitive Deficits in the St. Jude Lifetime Cohort Completed NCT01700959 Phase 3 melatonin;placebo
11 Sleep, Fatigue, and Dexamethosone in Childhood Cancer Completed NCT00075101 Phase 3 Dexamethosone
12 Extended Duration Varenicline for Smoking Among Cancer Patients: A Clinical Trial Completed NCT01756885 Phase 3 Varenicline;Placebo
13 Randomised Phase III Study Evaluating Adjuvant Chemotherapy After Resection of Stage III Colonic Adenocarcinoma in Patients of 70 and Over Intergroup Trial: Ffcd, Gercor, Gerico, Unicancer-gi Recruiting NCT02355379 Phase 3 LV5FU2 or capectitabine;FOLFOX4 or XELOX;LV5FU2 or capecitabine
14 Prevention of Chemotherapy Induced Cardiotoxicity in Children With Bone Tumors and Acute Myeloid Leukemia Recruiting NCT03389724 Phase 3 Capoten®
15 EMPOWER Study: Promoting Breast Cancer Screening in Women Who Survived Childhood Cancer Active, not recruiting NCT01579552 Phase 3
16 Protocol for the Study and Treatment of Patients With Intraocular Retinoblastoma Active, not recruiting NCT00186888 Phase 3 Vincristine, Carboplatin;Vincristine and Topotecan;Vincristine + Carboplatin + Etoposide;vincristine, cyclophosphamide, and doxorubicin;Vincristine, Carboplatin and Etoposide
17 A Randomized Controlled Crossover Trial of Two Different Central Venous Catheter Flushing Schemes in Pediatric Hematology and Oncology Patients in Alberta, Canada Terminated NCT01343680 Phase 3 Heparin;Normal saline
18 Pilot Study of Statin Therapy in Young Adult Survivors of Childhood Cancer Completed NCT01733953 Phase 2 Atorvastatin;Sugar Pill (Placebo)
19 Efficacy and Tolerance Adjuvant High-Dose Thiotepa With Peripheral Stem Cell Rescue Associated With Conventional Chemotherapy in Children and Adults With Relapsed Osteosarcoma Completed NCT00978471 Phase 2 Thiotepa
20 Phase 2 Single- Arm Studies of Temozolomide in Combination With Topotecan in Refractory and Relapsed Neuroblastoma and Other Paediatric Solid Tumours Completed NCT00918320 Phase 2 Temozolomide/Hycamtin (Topotecan)
21 PEPI: Protracted Etoposide in a Phase II Upfront Window for Induction Therapy for High Risk Neuroblastoma Completed NCT00578864 Phase 2 Protracted Oral Etoposide;Adriamycin and Cyclophosphamide;IV Cisplatin and IV Bolus Etoposide
22 Nivolumab and Ipilimumab Treatment in Prostate Cancer With an Immunogenic Signature Recruiting NCT03061539 Phase 2 Nivolumab & Ipilimumab
23 A Randomized Phase II Trial of Standard of Care Alone or in Combination With Ad-CEA Vaccine and Avelumab in Patients With Previously Untreated Metastatic or Unresectable Colorectal Cancer Recruiting NCT03050814 Phase 2 Avelumab;Bevacizumab;5-FU;Leucovorin;Oxaliplatin;Capecitabine;5-FU
24 Phase II Open-Label, Single-Center Study Evaluating Safety and Efficacy of Pembrolizumab Following Induction With the Hypomethylating Agent Azacitidine in Patients With Advanced Pancreatic Cancer After Failure of First-Line Therapy Recruiting NCT03264404 Phase 2 Pembrolizumab;Azacitidine
25 A Phase II Study of Avelumab in Patients With Mismatch Repair Deficient or POLE Mutated Metastatic Colorectal Cancer Recruiting NCT03150706 Phase 2 Avelumab
26 A Phase II Study of Durvalumab in Patients With Mismatch Repair Deficient or POLE Mutated Metastatic Colorectal Cancer Recruiting NCT03435107 Phase 2 Durvalumab
27 Study of KN035 as Monotherapy in Patients With Advanced Mismatched Repair Deficient (dMMR) or Microsatellite Instability-High (MSI-H) Solid Tumors Recruiting NCT03667170 Phase 2
28 A Multicenter, Open and Phase II Clinical Study of HX008 for the Treatment in Patients With Advanced Solid Tumors Recruiting NCT03704246 Phase 2 Anti-PD-1 monoclonal antibody
29 Pembrolizumab in MMR-Proficient Metastatic Colorectal Cancer Pharmacologically Primed to Trigger Dynamic Hypermutation Status Recruiting NCT03519412 Phase 2 temozolomide (induction),
30 Pharmacologic Reversal of Ventricular Remodeling in Childhood Cancer Survivors at Risk for Heart Failure (PREVENT-HF): A Phase 2b Randomized Placebo-Controlled (Carvedilol) Trial Recruiting NCT02717507 Phase 2 Carvedilol
31 A Cancer Research UK Phase I/II Study to Compare [124I]Meta-Iodobenzylguanidine (mIBG) Positron Emission Tomography/Computerised Tomography (PET/CT) to [123I]mIBG Imaging in Patients With Metastatic Neuroblastoma Recruiting NCT02043899 Phase 1, Phase 2 [124I]meta-Iodobenzylguanidine
32 International Phase I/II Expansion Trial of the MEK Inhibitor Selumetinib in Combination With Dexamethasone for the Treatment of Relapsed/Refractory RAS-pathway Mutated Paediatric and Adult Acute Lymphoblastic Leukaemia Recruiting NCT03705507 Phase 1, Phase 2 Selumetinib;Dexamethasone
33 Radiotherapy Delivery in Deep Inspiration for Pediatric Patients: TEDDI - a NOPHO Feasibility Study Recruiting NCT03315546 Phase 1, Phase 2
34 Pharmacologic Reversal of Ventricular Remodeling in Childhood Cancer Survivors at Risk for Congestive Heart Failure (PREVENT-CHF): A Phase IIB Randomized Placebo-Controlled Trial Active, not recruiting NCT01347970 Phase 2 carvedilol
35 Phase II Prospective Trial of Vaccine Responses in Childhood Cancer Survivors Active, not recruiting NCT00505063 Phase 2
36 A Phase I/II Study Using Allogeneic Tumor Cell Vaccination With Oral Metronomic Cytoxan in Patients With High-Risk Neuroblastoma (ATOMIC) Active, not recruiting NCT01192555 Phase 1, Phase 2 Cytoxan
37 Nivolumab as a Non-Castrating Therapy for MMR-deficient and CDK12- Altered Prostate Cancer With PSA Recurrence After Local Therapy Not yet recruiting NCT04019964 Phase 2 Nivolumab
38 Phase II Study on the Identification and Treatment of Clinically Silent Catheter-Related Deep Vein Thrombosis in Children With Cancer Terminated NCT00633061 Phase 2 Enoxaparin
39 A Phase II Open Label Pilot Study of the Angiotensin-converting Enzyme Inhibitor, Perindopril, in Pediatric Cancer Survivors With Evidence of Early Cardiac Remodelling or Dysfunction. Withdrawn NCT01948232 Phase 2 Perindopril
40 Clonidine for the Treatment of Neurocognitive Sequelae Following Cancer Treatment in Children Withdrawn NCT00166686 Phase 1, Phase 2 Clonidine
41 A Pilot Study to Evaluate the Effects of Purple Grape Juice on the Vascular Health of Childhood Cancer Survivors Completed NCT01043939 Phase 1
42 OmegaChild - Omega-3 Supplementation to Children Now in Full Remission From a Previous Cancer; an Early Phase Dose-finding Study. Completed NCT02134600 Phase 1
43 Phase I Trial of CEDIRANIB (AZD2171), an Orally Bioavailable Antiangiogenic Agent, in Children and Adolescents With Refractory or Recurrent Solid Tumors Completed NCT00321581 Phase 1 Cediranib, AZD2171, RECENTIN
44 Phase I Study of Doxorubicin HCl Liposome in Pediatric Patients With Refractory Solid Tumors Completed NCT00019630 Phase 1 doxorubicin HCl liposome
45 Phase I Trial and Pharmacokinetic Study of Tariquidar (XR9576), a P-Glycoprotein Inhibitor, in Combination With Doxorubicin, Vinorelbine or Docetaxel in Pediatric Patients With Refractory Solid Tumors Including Brain Tumors Completed NCT00011414 Phase 1 Tariquidar
46 A Safety and Preliminary Efficacy Trial of MK-3475 (Pembrolizumab; Anti-PD-1) in Children With Recurrent, Progressive or Refractory Diffuse Intrinsic Pontine Glioma (DIPG), Non-Brainstem High-Grade Gliomas (NB-HGG), Ependymoma, Medulloblastoma or Hypermutated Brain Tumors Recruiting NCT02359565 Phase 1
47 Phase I Clinical Trial on Intra-tumoral Ipilimumab Plus Intravenous Nivolumab Following the Resection of Recurrent Glioblastoma Recruiting NCT03233152 Phase 1 Ipilimumab (YervoyTM, 50 mg/10 mL solution);Nivolumab (OpdivoTM, 40 mg/4mL solution)
48 A Single-center, Open-label, Single-dose Phase I Study to Investigate the Absorption, Metabolism and Excretion of [14C]Ensartinib (X-396) After a Single Oral 200mg (100µCi) Dose in Healthy Chinese Male Subjects Recruiting NCT03804541 Phase 1 Ensartinib
49 A Phase I Study of SGT-53, a TfRscFv-Liposome-p53 Complex, in Children With Refractory or Recurrent Solid Tumors Recruiting NCT02354547 Phase 1 Topotecan;Cyclophosphamide
50 Phase 1 Dose Escalation Study of CD19/CD22 Chimeric Antigen Receptor (CAR) T Cells in Children and Young Adults With Recurrent or Refractory CD19/CD22-expressing B Cell Malignancies Recruiting NCT03448393 Phase 1 Fludarabine;Cyclophosphamide

Search NIH Clinical Center for Mismatch Repair Cancer Syndrome

Genetic Tests for Mismatch Repair Cancer Syndrome

Genetic tests related to Mismatch Repair Cancer Syndrome:

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

Anatomical Context for Mismatch Repair Cancer Syndrome

MalaCards organs/tissues related to Mismatch Repair Cancer Syndrome:

41
Brain, Colon, Skin, Bone, Heart, Breast, T Cells

Publications for Mismatch Repair Cancer Syndrome

Articles related to Mismatch Repair Cancer Syndrome:

(show top 50) (show all 191)
# Title Authors PMID Year
1
A homozygous mutation in MSH6 causes Turcot syndrome. 9 38 8 71
16000562 2005
2
Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. 9 8 71
19293170 2009
3
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 38 8 71
15077197 2004
4
A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer. 9 8 71
15340263 2004
5
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 8 71
25691505 2015
6
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. 8 71
22692065 2013
7
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 8 71
17557300 2007
8
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 8 71
17440981 2007
9
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 8 71
16283678 2005
10
Early onset brain tumor and lymphoma in MSH2-deficient children. 8 71
12549480 2003
11
A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. 8 71
11809679 2002
12
Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC? 8 71
14574005 2001
13
Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. 8 71
9927033 1999
14
PMS2 mutations in childhood cancer. 9 71
16507833 2006
15
Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. 9 71
10763829 2000
16
Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. 38 8
1322639 1992
17
Turcot syndrome (glioma polyposis). Case report. 38 8
4056888 1985
18
Turcot syndrome and its characteristic colonic manifestations. 38 8
4006635 1985
19
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 71
25394175 2015
20
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 71
25452455 2015
21
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). 8
24737826 2014
22
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 71
23709753 2013
23
Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. 71
22167527 2012
24
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2. 71
18781192 2009
25
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. 71
18824584 2008
26
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? 8
18709565 2008
27
Childhood T-cell non-Hodgkin's lymphoma, colorectal carcinoma and brain tumor in association with café-au-lait spots caused by a novel homozygous PMS2 mutation. 71
18007577 2008
28
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. 71
18030674 2008
29
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. 8
17993636 2008
30
A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years. 71
16372347 2006
31
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. 71
15139004 2004
32
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 71
15604628 2004
33
Lynch Syndrome 71
20301390 2004
34
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. 8
12522551 2003
35
Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. 71
12112654 2002
36
Extensive somatic microsatellite mutations in normal human tissue. 71
11389087 2001
37
Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer. 71
11343035 2001
38
Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 71
9927034 1999
39
A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 71
9488480 1998
40
"Turcot's syndrome": phenotype of brain tumors, survival and mode of inheritance. 8
9426707 1998
41
Brain tumor-polyposis syndrome: two genetic diseases? 8
9215849 1997
42
Gastrointestinal polyposis and nonpolyposis syndromes. 8
7619129 1995
43
The molecular basis of Turcot's syndrome. 8
7661930 1995
44
Turcot's syndrome: evidence for linkage to the adenomatous polyposis coli (APC) locus. 8
8208405 1994
45
Turcot's syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene. 8
8439970 1993
46
Association between neuroepithelial tumor and multiple intestinal polyposis (Turcot's syndrome): report of a case and critical analysis of the literature. 8
1849239 1991
47
[Craniopharyngioma associated with rectocolonic polyposis: Turcot's syndrome?]. 8
6662328 1983
48
Acute leukemia after radiotherapy in a patient with Turcot's syndrome. Impaired colony formation in skin fibroblast cultures after irradiation. 8
6572034 1983
49
Turcot's syndrome. Evidence for autosomal dominant inheritance. 8
6821830 1983
50
Basal cell carcinoma in a patient with intestinal polyposis. 8
7172481 1982

Variations for Mismatch Repair Cancer Syndrome

ClinVar genetic disease variations for Mismatch Repair Cancer Syndrome:

6 (show top 50) (show all 165)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MSH2 NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter) single nucleotide variant Pathogenic rs63751108 2:47657020-47657020 2:47429881-47429881
2 MSH2 NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro) single nucleotide variant Pathogenic rs63750875 2:47702310-47702310 2:47475171-47475171
3 MSH2 MSH2, EX1-6 DEL deletion Pathogenic
4 MSH6 MSH6, 1-BP INS, 1596T insertion Pathogenic
5 MSH6 MSH6, TRP1024TER undetermined variant Pathogenic
6 MSH6 MSH6, 3-BP DEL, NT3609 deletion Pathogenic
7 MSH6 NM_000179.2(MSH6): c.3633dup (p.Val1212fs) duplication Pathogenic rs587776706 2:48032833-48032833 2:47805694-47805694
8 PMS2 NM_000535.7(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 7:6042221-6042221 7:6002590-6002590
9 PMS2 NM_000535.7(PMS2): c.1221del (p.Thr408fs) deletion Pathogenic rs587776715 7:6027175-6027175 7:5987544-5987544
10 PMS2 NM_000535.7(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 7:6017260-6017260 7:5977629-5977629
11 PMS2 NM_000535.7(PMS2): c.219T> A (p.Cys73Ter) single nucleotide variant Pathogenic rs121434630 7:6043634-6043634 7:6004003-6004003
12 MLH1 MLH1, EX16DEL deletion Pathogenic
13 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 3:37090053-37090053 3:37048562-37048562
14 MLH1 NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr) single nucleotide variant Pathogenic rs63750217 3:37090446-37090446 3:37048955-37048955
15 MLH1 MLH1, 2-BP DEL, 593AG deletion Pathogenic
16 MLH1 NM_000249.3(MLH1): c.104_105delinsAC (p.Met35Asn) indel Pathogenic rs121912965 3:37035142-37035143 3:36993651-36993652
17 MLH1 NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter) single nucleotide variant Pathogenic rs63750540 3:37067470-37067470 3:37025979-37025979
18 PMS2 NM_000535.7(PMS2): c.1164del (p.His388fs) deletion Pathogenic rs1554298082 7:6027232-6027232 7:5987601-5987601
19 PMS2 NM_000535.6(PMS2): c.1169_1170ins20 (p.?) insertion Pathogenic 7:6027226-6027227 7:5987595-5987596
20 PMS2 NM_000535.7(PMS2): c.1306dup (p.Ser436fs) duplication Pathogenic rs63750106 7:6027090-6027090 7:5987459-5987459
21 PMS2 NM_000535.7(PMS2): c.182del (p.Tyr61fs) deletion Pathogenic rs63750793 7:6043671-6043671 7:6004040-6004040
22 PMS2 NM_000535.7(PMS2): c.2361_2364del (p.Phe788fs) deletion Pathogenic rs267608160 7:6017300-6017303 7:5977669-5977672
23 PMS2 NM_000535.7(PMS2): c.823C> T (p.Gln275Ter) single nucleotide variant Pathogenic rs587780062 7:6035245-6035245 7:5995614-5995614
24 PMS2 NM_000535.7(PMS2): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs587780059 7:6048649-6048649 7:6009018-6009018
25 PMS2 NM_000535.7(PMS2): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs200640585 7:6031649-6031649 7:5992018-5992018
26 PMS2 NM_000535.7(PMS2): c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) indel Pathogenic rs267608150 7:6037019-6037024 7:5997388-5997393
27 PMS2 NM_000535.7(PMS2): c.1927C> T (p.Gln643Ter) single nucleotide variant Pathogenic rs63751422 7:6026469-6026469 7:5986838-5986838
28 PMS2 NM_000535.6(PMS2): c.1145-?_2445+?del deletion Pathogenic
29 MSH2 NM_000251.2(MSH2): c.868G> T (p.Glu290Ter) single nucleotide variant Pathogenic rs587779190 2:47641483-47641483 2:47414344-47414344
30 MSH2 NM_000251.2(MSH2): c.2131C> T (p.Arg711Ter) single nucleotide variant Pathogenic rs63750636 2:47703631-47703631 2:47476492-47476492
31 MSH2 NM_000251.2(MSH2): c.1861C> T (p.Arg621Ter) single nucleotide variant Pathogenic rs63750508 2:47702265-47702265 2:47475126-47475126
32 MSH2 NM_000251.2(MSH2): c.1662-1G> A single nucleotide variant Pathogenic rs267607970 2:47698103-47698103 2:47470964-47470964
33 MSH2 NM_000251.2(MSH2): c.1147C> T (p.Arg383Ter) single nucleotide variant Pathogenic rs63749849 2:47656951-47656951 2:47429812-47429812
34 MSH2 NM_000251.2(MSH2): c.1076+1G> A single nucleotide variant Pathogenic rs267607940 2:47643569-47643569 2:47416430-47416430
35 MLH1 NM_000249.3(MLH1): c.588+5G> A single nucleotide variant Pathogenic rs267607768 3:37053358-37053358 3:37011867-37011867
36 MLH1 NM_000249.3(MLH1): c.306+5G> A single nucleotide variant Pathogenic rs267607735 3:37042549-37042549 3:37001058-37001058
37 MLH1 NM_000249.3(MLH1): c.1459C> T (p.Arg487Ter) single nucleotide variant Pathogenic rs63749795 3:37070324-37070324 3:37028833-37028833
38 MLH1 NM_000249.3(MLH1): c.2059C> T (p.Arg687Trp) single nucleotide variant Pathogenic rs63751275 3:37090464-37090464 3:37048973-37048973
39 MSH6 NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter) single nucleotide variant Pathogenic rs63749843 2:48030588-48030588 2:47803449-47803449
40 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 3:37038192-37038192 3:36996701-36996701
41 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 3:37053589-37053589 3:37012098-37012098
42 MLH1 NM_000249.3(MLH1): c.1846_1848AAG[2] (p.Lys618del) short repeat Pathogenic rs63751247 3:37089130-37089132 3:37047639-37047641
43 MSH6 MSH6, 1-BP DEL, 3261C deletion Pathogenic
44 MSH2 NM_000251.2(MSH2): c.454del (p.Met152fs) deletion Pathogenic rs63751449 2:47637320-47637320 2:47410181-47410181
45 MSH6 NM_000179.2(MSH6): c.3103C> T (p.Arg1035Ter) single nucleotide variant Pathogenic rs63749999 2:48028225-48028225 2:47801086-47801086
46 MSH6 NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs63751017 2:48027853-48027853 2:47800714-47800714
47 MLH1 NM_000249.3(MLH1): c.885-1G> A single nucleotide variant Pathogenic/Likely pathogenic 3:37061800-37061800 3:37020309-37020309
48 MSH6 NM_000179.2(MSH6): c.10C> T (p.Gln4Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201042 2:48010382-48010382 2:47783243-47783243
49 PMS2 NM_000535.7(PMS2): c.251-2A> T single nucleotide variant Pathogenic/Likely pathogenic rs587779340 7:6043425-6043425 7:6003794-6003794
50 PMS2 NM_000535.7(PMS2): c.1731_1732delinsAGT (p.Arg578fs) indel Pathogenic/Likely pathogenic rs1057515572 7:6026664-6026665 7:5987033-5987034

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

74
# 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

Expression for Mismatch Repair Cancer Syndrome

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

Pathways for Mismatch Repair Cancer Syndrome

Pathways related to Mismatch Repair Cancer Syndrome according to KEGG:

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

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

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

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 PTEN PMS2 PMS1 PAX3 MYCN MSH6
2 nucleoplasm GO:0005654 9.92 PTEN PMS2 PAX3 MSH6 MSH2 MLH1
3 catenin complex GO:0016342 9.43 CTNNB1 APC
4 beta-catenin destruction complex GO:0030877 9.4 CTNNB1 APC
5 Wnt signalosome GO:1990909 9.37 CTNNB1 APC
6 MutSalpha complex GO:0032301 9.16 MSH6 MSH2
7 MutLalpha complex GO:0032389 9.13 PMS2 PMS1 MLH1
8 mismatch repair complex GO:0032300 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.84 PTEN PMS2 PMS1 CTNNB1
2 DNA repair GO:0006281 9.77 PMS2 PMS1 MSH6 MSH2 MLH1
3 cellular response to DNA damage stimulus GO:0006974 9.73 PMS2 PMS1 MSH6 MSH2 MLH1 APC
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MSH6 MSH2 MLH1
5 regulation of cell differentiation GO:0045595 9.59 CTNNB1 APC
6 beta-catenin destruction complex disassembly GO:1904886 9.58 CTNNB1 APC
7 cell fate specification GO:0001708 9.58 CTNNB1 APC
8 negative regulation of DNA recombination GO:0045910 9.57 MSH6 MSH2
9 determination of adult lifespan GO:0008340 9.56 MSH6 MSH2
10 positive regulation of isotype switching to IgG isotypes GO:0048304 9.55 MSH2 MLH1
11 positive regulation of helicase activity GO:0051096 9.52 MSH6 MSH2
12 isotype switching GO:0045190 9.5 MSH6 MSH2 MLH1
13 positive regulation of isotype switching to IgA isotypes GO:0048298 9.49 MSH2 MLH1
14 maintenance of DNA repeat elements GO:0043570 9.48 MSH6 MSH2
15 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MSH2 MLH1
16 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MSH6 MSH2 MLH1
17 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 PMS2 MSH6 MSH2 MLH1
18 pyrimidine dimer repair GO:0006290 9.21 MSH6
19 meiotic mismatch repair GO:0000710 9.16 MSH6
20 mismatch repair GO:0006298 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.97 PMS2 PMS1 MSH6 MSH2 MLH1
2 protein kinase binding GO:0019901 9.83 PTEN MSH2 CTNNB1 APC
3 chromatin binding GO:0003682 9.8 MSH6 MSH2 MLH1 CTNNB1
4 ATPase activity GO:0016887 9.65 PMS2 PMS1 MSH6 MSH2 MLH1
5 enzyme binding GO:0019899 9.63 PTEN PMS1 MSH6 MSH2 MLH1 CTNNB1
6 DNA-dependent ATPase activity GO:0008094 9.56 MSH6 MSH2
7 ADP binding GO:0043531 9.55 MSH6 MSH2
8 four-way junction DNA binding GO:0000400 9.51 MSH6 MSH2
9 single-stranded DNA binding GO:0003697 9.5 PMS2 MSH2 MLH1
10 oxidized purine DNA binding GO:0032357 9.48 MSH6 MSH2
11 MutSalpha complex binding GO:0032407 9.46 PMS2 MLH1
12 MutLalpha complex binding GO:0032405 9.43 MSH6 MSH2
13 single thymine insertion binding GO:0032143 9.4 MSH6 MSH2
14 single guanine insertion binding GO:0032142 9.37 MSH6 MSH2
15 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
16 mismatched DNA binding GO:0030983 9.02 PMS2 PMS1 MSH6 MSH2 MLH1
17 DNA binding GO:0003677 10.01 PMS2 PMS1 PAX3 MYCN MSH6 MSH2

Sources for Mismatch Repair Cancer Syndrome

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