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 56 52 25 73 13
Turcot Syndrome 56 74 52 73 29 54 6 71
Mismatch Repair Deficiency 56 52 25 73 36
Constitutional Mismatch Repair Deficiency Syndrome 56 25 58 73
Mmr Deficiency 56 52 73
Mmrcs 56 52 73
Brain Tumor-Polyposis Syndrome 1 56 73
Childhood Cancer Syndrome 56 73
Childhood Cancer 54 17
Btp1 Syndrome 56 73
Cmmrds 56 73
Btps1 56 73
Malignant Tumors of the Central Nervous System Associated with Familial Polyposis of the Colon 52
Constitutional Mismatch Repair Deficiency Syndrome; Cmmrds 56
Cns Tumors with Familial Polyposis of the Colon 52
Biallelic Mismatch Repair Deficiency Syndrome 25
Brain Tumor-Polyposis Syndrome 1; Btps1 56
Cancer Syndrome, Mismatch Repair 39
Brain Tumor-Polyposis Syndrome 52
Malignant Childhood Neoplasm 71
Glioma-Polyposis Syndrome 52
Cmmr-D Syndrome 58
Bmmrd 25


Orphanet epidemiological data:

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


autosomal recessive

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


mismatch repair cancer syndrome:
Inheritance autosomal recessive inheritance


Orphanet: 58  
Rare neurological diseases
Rare immunological diseases

Summaries for Mismatch Repair Cancer Syndrome

OMIM : 56 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 neurofibromatosis, type i and glioma susceptibility 1. 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 Methylphenidate 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

Genetics Home Reference : 25 Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare disorder that greatly increases the risk of developing one or more types of cancer in children and young adults. The cancers that most commonly occur in CMMRD syndrome are cancers of the colon (large intestine) and rectum (collectively referred to as colorectal cancer), brain, and blood (leukemia or lymphoma). Almost all people with CMMRD syndrome develop cancer before age 18, generally in late childhood. The age of diagnosis varies depending on the cancer type; brain cancers, leukemia, and lymphomas tend to occur at younger ages than colorectal cancer in people with CMMRD syndrome. It is estimated that 20 to 40 percent of people with CMMRD syndrome who develop cancer will develop another cancer later in life. People with CMMRD syndrome may develop multiple noncancerous (benign) growths (adenomas) in the colon that are likely to become cancerous (malignant) over time. Brain cancers in CMMRD syndrome often involve certain cells called glial cells, causing gliomas or glioblastomas. The most common blood cancer in CMMRD syndrome is called non-Hodgkin lymphoma, which affects white blood cells. Other cancers that can occur in CMMRD syndrome include cancers of the small intestine, urinary tract, or uterine lining (endometrial cancer). Many people with CMMRD syndrome develop features similar to those that occur in a condition called neurofibromatosis type 1. These features include changes in skin coloring (pigmentation), which are characterized by one or more flat patches on the skin that are darker than the surrounding area (café-au-lait spots). Some affected individuals have freckling or patches of skin that are unusually light in color (hypopigmented). Rarely, people with CMMRD syndrome will develop a feature of neurofibromatosis type 1 called Lisch nodules, which are benign growths that often appear in the colored part of the eye (the iris). Lisch nodules do not interfere with vision. Some people with CMMRD syndrome are initially misdiagnosed with neurofibromatosis type 1.

NIH Rare Diseases : 52 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 : 36 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 : 73 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 : 74 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 689)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis, type i 31.9 PMS2 MSH6 MSH2 MLH1
2 glioma susceptibility 1 31.8 PTEN PMS2 MSH2
3 neurofibromatosis 30.5 PMS2 MSH6 MSH2 MLH1
4 transverse colon cancer 30.2 PMS2 MLH1
5 legius syndrome 30.2 MSH6 MSH2
6 familial colorectal cancer 30.1 MSH2 MLH1 APC
7 attenuated familial adenomatous polyposis 30.0 MSH6 MSH2 APC
8 polyposis syndrome, hereditary mixed, 1 30.0 MSH2 MLH1 APC
9 alveolar soft part sarcoma 29.9 MSH2 MLH1 CTNNB1
10 rectum cancer 29.7 MSH6 MSH2 MLH1 APC
11 colorectal adenoma 29.7 MSH2 MLH1 CTNNB1 APC
12 endometrial adenocarcinoma 29.7 PTEN MLH1 CTNNB1
13 intrahepatic cholangiocarcinoma 29.7 PTEN CTNNB1 APC
14 lynch syndrome i 29.5 PMS2 PMS1 MSH6 MSH2 MLH1
15 adenoma 29.4 MSH6 MSH2 MLH1 CTNNB1 APC
16 ovary adenocarcinoma 29.3 PTEN MLH1 CTNNB1
17 fanconi anemia, complementation group a 29.3 PMS2 MSH6 MSH2 MLH1
18 ocular cancer 29.2 MSH6 MSH2 APC
19 skin melanoma 29.1 PTEN PMS2 MLH1
20 supratentorial primitive neuroectodermal tumor 29.1 MYCN APC
21 bilateral breast cancer 29.1 PTEN MSH6 MLH1
22 gastric adenocarcinoma 29.1 PTEN MLH1 CTNNB1 APC
23 sebaceous adenocarcinoma 29.0 PMS2 PMS1 MSH6 MSH2 MLH1
24 oligodendroglioma 29.0 PTEN PMS2 MSH6 MSH2 MLH1
25 gallbladder cancer 29.0 PTEN MLH1 CTNNB1
26 muir-torre syndrome 29.0 PMS2 PMS1 MSH6 MSH2 MLH1
27 cowden syndrome 1 29.0 PTEN MSH6 MSH2
28 small intestine adenocarcinoma 29.0 PMS2 MSH6 MSH2 MLH1 CTNNB1
29 leukemia, acute lymphoblastic 28.9 PMS2 MYCN MSH2 APC
30 glioblastoma multiforme 28.9 PTEN PMS2 MYCN MSH2 CTNNB1
31 lymphangioma 28.8 MSH2 MLH1 CTNNB1 APC
32 colorectal adenocarcinoma 28.6 PTEN PMS2 MSH6 MSH2 MLH1 CTNNB1
33 lymphoma, non-hodgkin, familial 28.6 PTEN MYCN MSH2 APC
34 central nervous system cancer 28.6 PTEN MYCN CTNNB1 APC
35 suppression of tumorigenicity 12 28.6 PTEN MYCN CTNNB1
36 adenocarcinoma 28.6 PTEN MSH6 MSH2 MLH1 CTNNB1 APC
37 uterine carcinosarcoma 28.5 PTEN PMS2 MSH6 MSH2 MLH1 CTNNB1
38 sarcoma, synovial 28.4 PAX3 MYCN CTNNB1
39 familial adenomatous polyposis 28.3 PMS2 PMS1 MSH6 MSH2 MLH1 CTNNB1
40 colon adenocarcinoma 28.2 PTEN PMS2 MSH6 MLH1 CTNNB1 APC
41 endometrial cancer 28.0 PTEN PMS2 MSH6 MSH2 MLH1 CTNNB1
42 cowden syndrome 28.0 PTEN PMS2 PMS1 MSH6 MSH2 MLH1
43 pancreatic adenocarcinoma 27.9 PTEN MYCN MLH1 CTNNB1 APC
44 rhabdomyosarcoma 27.6 PTEN PMS2 PAX3 MYCN MSH6 MSH2
45 lynch syndrome 27.4 PTEN PMS2 PMS1 MSH6 MSH2 MLH1
46 li-fraumeni syndrome 27.3 PTEN PMS2 MYCN MSH6 MSH2 MLH1
47 medulloblastoma 27.2 PTEN PAX3 MYCN MSH6 MSH2 CTNNB1
48 brain cancer 27.2 PTEN PMS2 MYCN MSH6 MSH2 CTNNB1
49 ovarian cancer 27.0 PTEN PMS2 PMS1 MYCN MSH6 MSH2
50 beckwith-wiedemann syndrome 11.4

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:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 agenesis of corpus callosum 31 occasional (7.5%) HP:0001274
2 gray matter heterotopia 31 occasional (7.5%) HP:0002282
3 hypermelanotic macule 31 HP:0001034
4 leukemia 31 HP:0001909
5 lymphoma 31 HP:0002665
6 rhabdomyosarcoma 31 HP:0002859
7 astrocytoma 31 HP:0009592
8 neuroblastoma 31 HP:0003006
9 basal cell carcinoma 31 HP:0002671
10 cafe-au-lait spot 31 HP:0000957
11 medulloblastoma 31 HP:0002885
12 ependymoma 31 HP:0002888
13 glioblastoma multiforme 31 HP:0012174
14 axillary freckling 31 HP:0000997
15 abnormality of abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM:

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:


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

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-1 9.61 MLH1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-124 9.61 MLH1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.61 APC
4 Increased shRNA abundance (Z-score > 2) GR00366-A-192 9.61 APC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-195 9.61 MLH1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.61 MLH1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-202 9.61 APC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.61 CTNNB1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.61 MLH1
10 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.17 MLH1
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.17 MLH1
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.17 MLH1 MSH2 MSH6 PMS1 PMS2

MGI Mouse Phenotypes related to Mismatch Repair Cancer Syndrome:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.18 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
2 cellular MP:0005384 10.16 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
3 homeostasis/metabolism MP:0005376 10.16 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
4 digestive/alimentary MP:0005381 10.1 APC CTNNB1 MLH1 MSH2 MYCN PAX3
5 immune system MP:0005387 10.09 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
6 integument MP:0010771 9.95 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
7 mortality/aging MP:0010768 9.91 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
8 neoplasm MP:0002006 9.81 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
9 liver/biliary system MP:0005370 9.8 APC CTNNB1 MYCN PAX3 PMS2 PTEN
10 limbs/digits/tail MP:0005371 9.77 APC CTNNB1 MYCN PAX3 PTEN
11 pigmentation MP:0001186 9.26 APC CTNNB1 PAX3 PTEN
12 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 208)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
Polyestradiol phosphate Approved Phase 4 28014-46-2
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
Norethindrone Approved Phase 4 68-22-4 6230
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
10 Cytochrome P-450 Enzyme Inhibitors Phase 4
11 Estrogens Phase 4
12 Dopamine Agents Phase 4
13 Central Nervous System Stimulants Phase 4
14 Estradiol 17 beta-cypionate Phase 4
15 Estradiol 3-benzoate Phase 4
16 Progestins Phase 4
17 Contraceptives, Oral Phase 4
18 Norethindrone Acetate Phase 4
19 Contraceptive Agents Phase 4
20 Norethindrone acetate, ethinyl estradiol, ferrous fumarate drug combination Phase 4
21 Norinyl Phase 4
Alendronate Approved Phase 3 66376-36-1, 121268-17-5 2088
Fusidic Acid Approved, Investigational Phase 3 6990-06-3 3000226
Celecoxib Approved, Investigational Phase 3 169590-42-5 2662
Enalapril Approved, Vet_approved Phase 3 75847-73-3 40466924 5362032
Enalaprilat Approved Phase 3 76420-72-9 6917719
Nicotine Approved Phase 3 54-11-5 942 89594
Varenicline Approved, Investigational Phase 3 249296-44-4 5310966
Captopril Approved Phase 3 62571-86-2 44093
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
Etoposide Approved Phase 3 33419-42-0 36462
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
Vincristine Approved, Investigational Phase 3 57-22-7, 2068-78-2 5978
Topotecan Approved, Investigational Phase 3 123948-87-8, 119413-54-6 60700
Mesna Approved, Investigational Phase 3 3375-50-6 598
Lenograstim Approved, Investigational Phase 3 135968-09-1
Pembrolizumab Approved Phase 3 1374853-91-4
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
Carboplatin Approved Phase 3 41575-94-4 10339178 38904 498142
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
Melatonin Approved, Nutraceutical, Vet_approved Phase 3 73-31-4 896
Maleic acid Experimental, Investigational Phase 3 110-17-8, 110-16-7 444972
43 Cyclooxygenase 2 Inhibitors Phase 3
44 Cyclooxygenase Inhibitors Phase 3
45 Anti-Inflammatory Agents, Non-Steroidal Phase 3
46 Protective Agents Phase 3
47 Cholinergic Agents Phase 3
48 Pyridostigmine Bromide Phase 3 101-26-8
49 Cholinesterase Inhibitors Phase 3
50 Bromides Phase 3

Interventional clinical trials:

(show top 50) (show all 295)
# 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 Learning Impairments Among Survivors of Childhood Cancer Completed NCT00576472 Phase 4 Methylphenidate
3 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
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 StepByStep: A Randomized Trial of a Mobile Health and Social Media Physical Activity Intervention Among Adolescent and Young Adult Childhood Cancer Survivors Not yet recruiting NCT04089358 Phase 3
18 A Phase III Randomized, Placebo-Controlled Study of Pembrolizumab (MK-3475, NSC #776864) in Addition to Paclitaxel and Carboplatin for Measurable Stage III or IVA, Stage IVB or Recurrent Endometrial Cancer Suspended NCT03914612 Phase 3 Carboplatin;Paclitaxel
19 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
20 Pilot Study of Statin Therapy in Young Adult Survivors of Childhood Cancer Completed NCT01733953 Phase 2 Atorvastatin;Sugar Pill (Placebo)
21 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
22 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)
23 PEPI: Protracted Etoposide in a Phase II Upfront Window for Induction Therapy for High Risk Neuroblastoma Completed NCT00578864 Phase 2 Protracted Oral Etoposide;Doxorubicin;IV Bolus Etoposide;Cisplatin;Cyclophosphamide;Mesna;Hematopoietic Factor
24 A Phase 2 Study of a Checkpoint Inhibitor in Men With Progressive Metastatic Castrate Resistant Prostate Cancer Characterized by a Mismatch Repair Deficiency or Biallelic CDK12 Inactivation Recruiting NCT04104893 Phase 2 Pembrolizumab
25 Nivolumab and Ipilimumab Treatment in Prostate Cancer With an Immunogenic Signature Recruiting NCT03061539 Phase 2 Nivolumab & Ipilimumab
26 Pilot Study of Nivolumab in Pediatric Patients With Hypermutant Cancers Recruiting NCT02992964 Phase 1, Phase 2 Nivolumab
27 A Dose-optimization, Exploratory Phase Ib/II Study to Assess Safety and Efficacy of the Second Mitochondrial-derived Activator of Caspases (SMAC) Mimetic Debio 1143, When Given in Combination With the Anti-PD-1 Antibody Nivolumab in Patients With Specific Solid Tumors Who Have Progressed During or Immediately After Anti-PD-1/PD-L1 Treatment Recruiting NCT04122625 Phase 1, Phase 2 Debio 1143;Nivolumab
28 Nivolumab as a Non-Castrating Therapy for MMR-deficient and CDK12- Altered Prostate Cancer With PSA Recurrence After Local Therapy Recruiting NCT04019964 Phase 2 Nivolumab
29 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
30 A Phase II Study of Durvalumab in Patients With Mismatch Repair Deficient or POLE Mutated Metastatic Colorectal Cancer Recruiting NCT03435107 Phase 2 Durvalumab
31 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
32 Pembrolizumab in MMR-Proficient Metastatic Colorectal Cancer Pharmacologically Primed to Trigger Dynamic Hypermutation Status Recruiting NCT03519412 Phase 2 temozolomide (induction),
33 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
34 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
35 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
36 Radiotherapy Delivery in Deep Inspiration for Pediatric Patients: TEDDI - a NOPHO Feasibility Study Recruiting NCT03315546 Phase 1, Phase 2
37 MATCH Treatment Subprotocol Z1D: Nivolumab in Patients With Tumors With Mismatch Repair Deficiency Active, not recruiting NCT04439214 Phase 2
38 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 Active, not recruiting NCT03050814 Phase 2 Avelumab;Bevacizumab;5-FU;Leucovorin;Oxaliplatin;Capecitabine;5-FU
39 A Phase II Study of Avelumab in Patients With Mismatch Repair Deficient or POLE Mutated Metastatic Colorectal Cancer Active, not recruiting NCT03150706 Phase 2 Avelumab
40 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
41 Phase II Prospective Trial of Vaccine Responses in Childhood Cancer Survivors Active, not recruiting NCT00505063 Phase 2
42 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 Active, not recruiting NCT02043899 Phase 1, Phase 2 [124I]meta-Iodobenzylguanidine
43 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
44 Durvalumab (MEDI4736) and Olaparib (AZD2281) for Treatment of Biochemically Recurrent Prostate Cancer in Men Predicted to Have a High Neoantigen Load: A Pilot Study Not yet recruiting NCT04336943 Phase 2 Olaparib
45 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
46 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
47 Clonidine for the Treatment of Neurocognitive Sequelae Following Cancer Treatment in Children Withdrawn NCT00166686 Phase 1, Phase 2 Clonidine
48 A Pilot Study to Evaluate the Effects of Purple Grape Juice on the Vascular Health of Childhood Cancer Survivors Completed NCT01043939 Phase 1
49 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
50 Phase I Randomized Study of MAGE-12 Peptide Vaccine in Patients With Refractory Metastatic Cancer Expressing MAGE-12 Antigen Completed NCT00020267 Phase 1 interleukin-2;MAGE-12 peptide vaccine;Montanide ISA-51

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:

Brain, Colon, Skin, Eye, Heart, Small Intestine, Bone

Publications for Mismatch Repair Cancer Syndrome

Articles related to Mismatch Repair Cancer Syndrome:

(show top 50) (show all 196)
# Title Authors PMID Year
A homozygous mutation in MSH6 causes Turcot syndrome. 61 6 54 56
16000562 2005
Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. 56 6 54
19293170 2009
Novel PMS2 pseudogenes can conceal recessive mutations causing a distinctive childhood cancer syndrome. 61 56 6
15077197 2004
A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer. 56 6 54
15340263 2004
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 56 6
25691505 2015
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. 6 56
22692065 2013
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 56 6
17557300 2007
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 56 6
17440981 2007
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 56 6
16283678 2005
Early onset brain tumor and lymphoma in MSH2-deficient children. 6 56
12549480 2003
A homozygous germ-line mutation in the human MSH2 gene predisposes to hematological malignancy and multiple café-au-lait spots. 56 6
11809679 2002
Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC? 6 56
14574005 2001
Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. 6 56
9927033 1999
PMS2 mutations in childhood cancer. 6 54
16507833 2006
Evidence for a recessive inheritance of Turcot's syndrome caused by compound heterozygous mutations within the PMS2 gene. 54 6
10763829 2000
Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. 56 61
1322639 1992
Turcot syndrome (glioma polyposis). Case report. 61 56
4056888 1985
Turcot syndrome and its characteristic colonic manifestations. 61 56
4006635 1985
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. 6
25452455 2015
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. 6
25394175 2015
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). 56
24737826 2014
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 6
23709753 2013
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. 6
22167527 2012
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2. 6
18781192 2009
Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination. 6
18824584 2008
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? 56
18709565 2008
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. 6
18007577 2008
RNA-based mutation analysis identifies an unusual MSH6 splicing defect and circumvents PMS2 pseudogene interference. 6
18030674 2008
Multifocal anaplastic astrocytoma in a patient with hereditary colorectal cancer, transcobalamin II deficiency, agenesis of the corpus callosum, mental retardation, and inherited PMS2 mutation. 56
17993636 2008
A novel MSH2 germline mutation in homozygous state in two brothers with colorectal cancers diagnosed at the age of 11 and 12 years. 6
16372347 2006
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. 6
15139004 2004
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 6
15604628 2004
Lynch Syndrome 6
20301390 2004
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. 56
12522551 2003
Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. 6
12112654 2002
Extensive somatic microsatellite mutations in normal human tissue. 6
11389087 2001
Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer. 6
11343035 2001
Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 6
9927034 1999
A naturally occurring hPMS2 mutation can confer a dominant negative mutator phenotype. 6
9488480 1998
"Turcot's syndrome": phenotype of brain tumors, survival and mode of inheritance. 56
9426707 1998
Brain tumor-polyposis syndrome: two genetic diseases? 56
9215849 1997
Gastrointestinal polyposis and nonpolyposis syndromes. 56
7619129 1995
The molecular basis of Turcot's syndrome. 56
7661930 1995
Turcot's syndrome: evidence for linkage to the adenomatous polyposis coli (APC) locus. 56
8208405 1994
Turcot's syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene. 56
8439970 1993
Association between neuroepithelial tumor and multiple intestinal polyposis (Turcot's syndrome): report of a case and critical analysis of the literature. 56
1849239 1991
[Craniopharyngioma associated with rectocolonic polyposis: Turcot's syndrome?]. 56
6662328 1983
Turcot's syndrome. Evidence for autosomal dominant inheritance. 56
6821830 1983
Acute leukemia after radiotherapy in a patient with Turcot's syndrome. Impaired colony formation in skin fibroblast cultures after irradiation. 56
6572034 1983
Basal cell carcinoma in a patient with intestinal polyposis. 56
7172481 1982

Variations for Mismatch Repair Cancer Syndrome

ClinVar genetic disease variations for Mismatch Repair Cancer Syndrome:

6 (show top 50) (show all 170) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMS2 NM_000535.7(PMS2):c.1164del (p.His388fs)deletion Pathogenic 480324 rs1554298082 7:6027232-6027232 7:5987601-5987601
2 MSH2 NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter)SNV Pathogenic 1755 rs63751108 2:47657020-47657020 2:47429881-47429881
3 MSH2 NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro)SNV Pathogenic 1764 rs63750875 2:47702310-47702310 2:47475171-47475171
4 MSH2 MSH2, EX1-6 DELdeletion Pathogenic 1767
5 MSH2 NM_000251.2(MSH2):c.454del (p.Met152fs)deletion Pathogenic 1768 rs63751449 2:47637317-47637317 2:47410178-47410178
6 MSH6 MSH6, TRP1024TERundetermined variant Pathogenic 8938
7 MSH6 MSH6, 3-BP DEL, NT3609deletion Pathogenic 8939
8 MSH6 NM_000179.2(MSH6):c.3633dup (p.Val1212fs)duplication Pathogenic 8941 rs587776706 2:48032831-48032832 2:47805692-47805693
9 MSH6 MSH6, 1-BP INS, 1596Tinsertion Pathogenic 8942
10 MSH6 MSH6, 1-BP DEL, 3261Cdeletion Pathogenic 8943
11 PMS2 NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)SNV Pathogenic 9234 rs63750871 7:6042221-6042221 7:6002590-6002590
12 PMS2 NM_000535.7(PMS2):c.1221del (p.Thr408fs)deletion Pathogenic 9235 rs587776715 7:6027175-6027175 7:5987544-5987544
13 PMS2 NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)SNV Pathogenic 9237 rs63751466 7:6017260-6017260 7:5977629-5977629
14 PMS2 NM_000535.7(PMS2):c.219T>A (p.Cys73Ter)SNV Pathogenic 9249 rs121434630 7:6043634-6043634 7:6004003-6004003
15 MLH1 NM_000249.4(MLH1):c.1846_1848AAG[2] (p.Lys618del)short repeat Pathogenic 17080 rs63751247 3:37089130-37089132 3:37047632-37047634
16 MLH1 NM_000249.3(MLH1):c.676C>T (p.Arg226Ter)SNV Pathogenic 17087 rs63751615 3:37053589-37053589 3:37012098-37012098
17 MLH1 NM_000249.3(MLH1):c.199G>T (p.Gly67Trp)SNV Pathogenic 17088 rs63750206 3:37038192-37038192 3:36996701-36996701
18 MLH1 MLH1, EX16DELdeletion Pathogenic 17091
19 MLH1 NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser)SNV Pathogenic 17097 rs63750899 3:37090053-37090053 3:37048562-37048562
20 MLH1 NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr)SNV Pathogenic 17099 rs63750217 3:37090446-37090446 3:37048955-37048955
21 MLH1 MLH1, 2-BP DEL, 593AGdeletion Pathogenic 17104
22 MLH1 NM_001167617.2(MLH1):c.-413_-412delinsACindel Pathogenic 17105 rs121912965 3:37035142-37035143 3:36993651-36993652
23 MLH1 NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)SNV Pathogenic 36540 rs63750540 3:37067470-37067470 3:37025979-37025979
24 MSH6 NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter)SNV Pathogenic 89312 rs63751017 2:48027853-48027853 2:47800714-47800714
25 MSH6 NM_000179.2(MSH6):c.3103C>T (p.Arg1035Ter)SNV Pathogenic 89338 rs63749999 2:48028225-48028225 2:47801086-47801086
26 MSH6 NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter)SNV Pathogenic 89352 rs63749843 2:48030588-48030588 2:47803449-47803449
27 MSH6 NM_001281492.1(MSH6):c.2996_2998del (p.Cys999_Val1000delinsLeu)deletion Pathogenic 89379 rs587776705 2:48030772-48030774 2:47803633-47803635
28 MLH1 NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter)SNV Pathogenic 89744 rs63749795 3:37070324-37070324 3:37028833-37028833
29 MLH1 NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp)SNV Pathogenic 90014 rs63751275 3:37090464-37090464 3:37048973-37048973
30 MLH1 NM_000249.3(MLH1):c.306+5G>ASNV Pathogenic 90148 rs267607735 3:37042549-37042549 3:37001058-37001058
31 MLH1 NM_000249.3(MLH1):c.588+5G>ASNV Pathogenic 90285 rs267607768 3:37053358-37053358 3:37011867-37011867
32 MSH2 NM_000251.2(MSH2):c.1076+1G>ASNV Pathogenic 90519 rs267607940 2:47643569-47643569 2:47416430-47416430
33 MSH2 NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)SNV Pathogenic 90554 rs63749849 2:47656951-47656951 2:47429812-47429812
34 MSH2 NM_000251.3(MSH2):c.1662-1G>ASNV Pathogenic 90727 rs267607970 2:47698103-47698103 2:47470964-47470964
35 MSH2 NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter)SNV Pathogenic 90804 rs63750508 2:47702265-47702265 2:47475126-47475126
36 MSH2 NM_000251.2(MSH2):c.2006-5T>ASNV Pathogenic 90849 rs267607990 2:47703501-47703501 2:47476362-47476362
37 MSH2 NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)SNV Pathogenic 90903 rs63750636 2:47703631-47703631 2:47476492-47476492
38 MSH2 NM_000251.2(MSH2):c.868G>T (p.Glu290Ter)SNV Pathogenic 91235 rs587779190 2:47641483-47641483 2:47414344-47414344
39 PMS2 NM_000535.6(PMS2):c.1145-?_2445+?deldeletion Pathogenic 91295
40 PMS2 NM_000535.6(PMS2):c.1169_1170ins20 (p.?)insertion Pathogenic 91296 7:6027226-6027227 7:5987595-5987596
41 PMS2 NM_000535.7(PMS2):c.1306dup (p.Ser436fs)duplication Pathogenic 91300 rs63750106 7:6027089-6027090 7:5987458-5987459
42 PMS2 NM_000535.7(PMS2):c.182del (p.Tyr61fs)deletion Pathogenic 91316 rs63750793 7:6043671-6043671 7:6004040-6004040
43 PMS2 NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)SNV Pathogenic 91320 rs63751422 7:6026469-6026469 7:5986838-5986838
44 PMS2 NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)deletion Pathogenic 91338 rs267608160 7:6017300-6017303 7:5977669-5977672
45 PMS2 NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)indel Pathogenic 91366 rs267608150 7:6037019-6037024 7:5997388-5997393
46 PMS2 NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs)short repeat Pathogenic 91375 rs267608154 7:6035204-6035207 7:5995573-5995576
47 PMS2 NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)SNV Pathogenic 91382 rs200640585 7:6031649-6031649 7:5992018-5992018
48 PMS2 NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)SNV Pathogenic 127796 rs587780062 7:6035245-6035245 7:5995614-5995614
49 PMS2 NM_000535.7(PMS2):c.2T>A (p.Met1Lys)SNV Pathogenic 182809 rs587780059 7:6048649-6048649 7:6009018-6009018
50 PMS2 NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)SNV Pathogenic 393103 rs587780724 7:6027020-6027020 7:5987389-5987389

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

# 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:

# 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 20)
# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
6 11.98 PAX3 CTNNB1 APC
11 11.67 PTEN PMS2 MSH2 MLH1 APC
12 11.5 MSH6 MSH2 MLH1
13 11.27 PTEN MSH6 MSH2
Show member pathways
11.19 MSH2 MLH1
15 11.15 PTEN APC
16 11.04 CTNNB1 APC
Show member pathways
18 10.92 CTNNB1 APC
19 10.78 CTNNB1 APC
20 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 10.02 PTEN PMS2 PMS1 PAX3 MYCN MSH6
2 nucleoplasm GO:0005654 9.81 PTEN PMS2 PAX3 MYCN MSH6 MSH2
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 9.26 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 18)
# Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.81 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 cell fate specification GO:0001708 9.58 CTNNB1 APC
6 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.57 PTEN APC
7 beta-catenin destruction complex disassembly GO:1904886 9.56 CTNNB1 APC
8 determination of adult lifespan GO:0008340 9.55 MSH6 MSH2
9 negative regulation of DNA recombination GO:0045910 9.54 MSH6 MSH2
10 positive regulation of isotype switching to IgG isotypes GO:0048304 9.52 MSH2 MLH1
11 isotype switching GO:0045190 9.5 MSH6 MSH2 MLH1
12 positive regulation of helicase activity GO:0051096 9.49 MSH6 MSH2
13 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MSH2 MLH1
14 maintenance of DNA repeat elements GO:0043570 9.46 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 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 15)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.01 PMS2 PMS1 PAX3 MYCN MSH6 MSH2
2 protein kinase binding GO:0019901 9.83 PTEN MSH2 CTNNB1 APC
3 chromatin binding GO:0003682 9.81 MSH6 MSH2 MLH1 CTNNB1
4 single-stranded DNA binding GO:0003697 9.65 PMS2 MSH2 MLH1
5 ATPase activity GO:0016887 9.65 PMS2 PMS1 MSH6 MSH2 MLH1
6 enzyme binding GO:0019899 9.63 PTEN PMS1 MSH6 MSH2 MLH1 CTNNB1
7 ADP binding GO:0043531 9.55 MSH6 MSH2
8 four-way junction DNA binding GO:0000400 9.49 MSH6 MSH2
9 MutSalpha complex binding GO:0032407 9.46 PMS2 MLH1
10 MutLalpha complex binding GO:0032405 9.43 MSH6 MSH2
11 oxidized purine DNA binding GO:0032357 9.4 MSH6 MSH2
12 single guanine insertion binding GO:0032142 9.37 MSH6 MSH2
13 single thymine insertion binding GO:0032143 9.32 MSH6 MSH2
14 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
15 mismatched DNA binding GO:0030983 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

Sources for Mismatch Repair Cancer Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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