MMRCS1
MCID: MSM022
MIFTS: 69

Mismatch Repair Cancer Syndrome 1 (MMRCS1)

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

Aliases & Classifications for Mismatch Repair Cancer Syndrome 1

MalaCards integrated aliases for Mismatch Repair Cancer Syndrome 1:

Name: Mismatch Repair Cancer Syndrome 1 57
Turcot Syndrome 57 73 20 72 29 54 6
Mismatch Repair Deficiency 57 20 43 72 36
Constitutional Mismatch Repair Deficiency Syndrome 57 43 58 72
Mismatch Repair Cancer Syndrome 20 43 72
Mmr Deficiency 57 20 72
Brain Tumor-Polyposis Syndrome 1 57 72
Childhood Cancer Syndrome 57 72
Childhood Cancer 54 17
Btp1 Syndrome 57 72
Cmmrds 57 72
Btps1 57 72
Mmrcs 20 72
Malignant Tumors of the Central Nervous System Associated with Familial Polyposis of the Colon 20
Constitutional Mismatch Repair Deficiency Syndrome; Cmmrds 57
Cns Tumors with Familial Polyposis of the Colon 20
Biallelic Mismatch Repair Deficiency Syndrome 43
Brain Tumor-Polyposis Syndrome 1; Btps1 57
Brain Tumor-Polyposis Syndrome 20
Glioma-Polyposis Syndrome 20
Cmmr-D Syndrome 58
Mmrcs1 57
Bmmrd 43

Characteristics:

Orphanet epidemiological data:

58
constitutional mismatch repair deficiency syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset of hematologic or cns tumors in the first-second decade of life
onset of gastrointestinal tumors typically occurs in second decade of life


HPO:

31
mismatch repair cancer syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare immunological diseases


Summaries for Mismatch Repair Cancer Syndrome 1

MedlinePlus Genetics : 43 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.

MalaCards based summary : Mismatch Repair Cancer Syndrome 1, also known as turcot syndrome, is related to mismatch repair cancer syndrome and neurofibromatosis. An important gene associated with Mismatch Repair Cancer Syndrome 1 is MLH1 (MutL Homolog 1), and among its related pathways/superpathways are Mismatch repair and Colorectal cancer. The drugs Budesonide and Ciprofloxacin have been mentioned in the context of this disorder. Affiliated tissues include brain, colon and eye, and related phenotypes are agenesis of corpus callosum and gray matter heterotopia

GARD : 20 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.

OMIM® : 57 Mismatch repair cancer syndrome (MMRCS) is a rare autosomal recessive 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). Wimmer and Etzler (2008) provided a review of the mismatch cancer repair syndrome and suggested that the prevalence may be underestimated. (276300) (Updated 05-Apr-2021)

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 : 72 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 : 73 Mismatch repair cancer syndrome (MMRCS) is a cancer syndrome associated with biallelic DNA mismatch... more...

Related Diseases for Mismatch Repair Cancer Syndrome 1

Diseases in the Mismatch Repair Cancer Syndrome family:

Mismatch Repair Cancer Syndrome 1 Mismatch Repair Cancer Syndrome 2
Mismatch Repair Cancer Syndrome 3 Mismatch Repair Cancer Syndrome 4

Diseases related to Mismatch Repair Cancer Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 668)
# Related Disease Score Top Affiliating Genes
1 mismatch repair cancer syndrome 32.1 PMS2 MSH6 MSH2 MLH1
2 neurofibromatosis 30.8 PMS2 MSH6 MSH2 MLH1
3 neurofibromatosis, type i 30.7 PTEN PMS2 MSH6 MSH2 MLH1
4 lynch syndrome i 30.6 PMS2 PMS1 MSH6 MSH2 MLH1
5 colorectal cancer, hereditary nonpolyposis, type 4 30.5 PMS2 PMS1 MLH1
6 hereditary nonpolyposis colon cancer 30.3 PMS2 PMS1 MSH6 MSH2 MLH1
7 t-cell non-hodgkin lymphoma 30.3 PMS2 MSH6 MSH2
8 familial colorectal cancer 30.3 MSH2 MLH1 APC
9 transverse colon cancer 30.3 PMS2 MLH1
10 anaplastic astrocytoma 30.3 PTEN PMS2 MLH1
11 legius syndrome 30.3 MSH6 MSH2
12 attenuated familial adenomatous polyposis 30.2 MSH6 MSH2 APC
13 intracranial meningioma 30.2 MSH2 MLH1
14 familial adenomatous polyposis 2 30.1 MLH1 APC
15 colorectal cancer, hereditary nonpolyposis, type 5 30.0 PMS2 MSH6 MSH2 MLH1 APC
16 hepatoblastoma 30.0 MYCN CTNNB1 APC
17 rectum cancer 29.9 MSH6 MSH2 MLH1 APC
18 alveolar soft part sarcoma 29.9 MSH2 MLH1 CTNNB1 APC
19 adenoma 29.8 MSH6 MSH2 MLH1 CTNNB1 APC
20 duodenum cancer 29.7 PMS2 MSH6 MSH2 MLH1
21 muir-torre syndrome 29.7 PMS2 PMS1 MSH6 MSH2 MLH1
22 gastric cancer 29.6 PTEN MSH6 MSH2 MLH1 CTNNB1 APC
23 endometrial adenocarcinoma 29.5 PTEN MLH1 CTNNB1
24 ocular cancer 29.4 MSH6 MSH2 APC
25 lynch syndrome 29.4 PTEN PMS2 PMS1 MSH6 MSH2 MLH1
26 sebaceous adenocarcinoma 29.4 PMS2 PMS1 MSH6 MSH2 MLH1
27 supratentorial primitive neuroectodermal tumor 29.4 MYCN APC
28 colorectal adenoma 29.4 PTEN MSH2 MLH1 CTNNB1 APC
29 lymphangioma 29.4 MLH1 CTNNB1 APC
30 small intestine adenocarcinoma 29.4 PMS2 MSH6 MSH2 MLH1 CTNNB1
31 bilateral breast cancer 29.4 PTEN MSH6 MLH1
32 colorectal adenocarcinoma 29.3 PTEN PMS2 MSH6 MSH2 MLH1 CTNNB1
33 gastric adenocarcinoma 29.3 PTEN MLH1 CTNNB1 APC
34 oligodendroglioma 29.3 PTEN PMS2 MSH6 MSH2 MLH1
35 familial adenomatous polyposis 29.2 PMS1 MSH6 MSH2 MLH1 CTNNB1 APC
36 leukemia, acute lymphoblastic 29.2 PTEN MYCN MSH2 APC
37 central nervous system cancer 29.2 PTEN MYCN CTNNB1 APC
38 fanconi anemia, complementation group a 29.1 PTEN PMS2 MSH6 MSH2 MLH1
39 adenocarcinoma 29.1 PTEN MSH6 MSH2 MLH1 CTNNB1 APC
40 colonic benign neoplasm 29.0 PMS2 MSH6 MSH2 MLH1 CTNNB1 APC
41 skin melanoma 28.9 PTEN PMS2 MLH1 CTNNB1
42 basal cell carcinoma 28.8 PTEN MYCN MSH2 MLH1 CTNNB1
43 cowden syndrome 1 28.8 PTEN PMS2 MSH6 MSH2 MLH1
44 sarcoma, synovial 28.8 PAX3 MYCN CTNNB1
45 skin carcinoma 28.8 PTEN PMS2 MSH6 MSH2 MLH1 CTNNB1
46 endometrial cancer 28.8 PTEN PMS2 MSH6 MSH2 MLH1 CTNNB1
47 hereditary breast ovarian cancer syndrome 28.7 PTEN PMS2 PMS1 MSH6 MSH2 MLH1
48 ovarian cancer 28.7 PTEN PMS2 PMS1 MSH6 MSH2 MLH1
49 medulloblastoma 28.6 PTEN PAX3 MYCN MSH6 CTNNB1 APC
50 brain cancer 28.4 PTEN PMS2 MYCN MSH6 CTNNB1 APC

Graphical network of the top 20 diseases related to Mismatch Repair Cancer Syndrome 1:



Diseases related to Mismatch Repair Cancer Syndrome 1

Symptoms & Phenotypes for Mismatch Repair Cancer Syndrome 1

Human phenotypes related to Mismatch Repair Cancer Syndrome 1:

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 leukemia 31 HP:0001909
4 lymphoma 31 HP:0002665
5 rhabdomyosarcoma 31 HP:0002859
6 astrocytoma 31 HP:0009592
7 hypermelanotic macule 31 HP:0001034
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 abnormal abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
leukemia
lymphoma
astrocytoma
medulloblastoma
glioblastoma
more
Neurologic Central Nervous System:
gray matter heterotopia
interhemispheric cyst
agenesis of the corpus callosum
intracerebral cyst

Genitourinary Kidneys:
renal cysts

Skin Nails Hair Skin:
neurofibromas
cafe-au-lait spots
plexiform neurofibromas

Skeletal Limbs:
pseudoarthrosis

Abdomen Gastrointestinal:
adenomatous colonic polyps

Clinical features from OMIM®:

276300 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Mismatch Repair Cancer Syndrome 1 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 1:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.15 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
2 hematopoietic system MP:0005397 10.11 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
3 homeostasis/metabolism MP:0005376 10.09 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
4 digestive/alimentary MP:0005381 10.08 APC CTNNB1 MLH1 MSH2 MYCN PAX3
5 immune system MP:0005387 10.01 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
6 integument MP:0010771 9.91 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
7 mortality/aging MP:0010768 9.81 APC CTNNB1 MLH1 MSH2 MSH6 MYCN
8 liver/biliary system MP:0005370 9.73 APC CTNNB1 MYCN PAX3 PMS2 PTEN
9 limbs/digits/tail MP:0005371 9.72 APC CTNNB1 MYCN PAX3 PTEN
10 neoplasm MP:0002006 9.61 APC CTNNB1 MLH1 MSH2 MSH6 PAX3
11 pigmentation MP:0001186 8.92 APC CTNNB1 PAX3 PTEN

Drugs & Therapeutics for Mismatch Repair Cancer Syndrome 1

Drugs for Mismatch Repair Cancer Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 171)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Budesonide Approved Phase 4 51333-22-3 63006 5281004
2
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
3
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
4
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
5 Anti-Bacterial Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Anti-Inflammatory Agents Phase 4
8 glucocorticoids Phase 4
9 Hormone Antagonists Phase 4
10 Adrenergic beta-Agonists Phase 4
11 Anti-Asthmatic Agents Phase 4
12 Respiratory System Agents Phase 4
13 Formoterol Fumarate Phase 4
14 Adrenergic Agonists Phase 4
15 Cytochrome P-450 Enzyme Inhibitors Phase 4
16 Dopamine Agents Phase 4
17 Dopamine Uptake Inhibitors Phase 4
18
Alendronate Approved Phase 3 121268-17-5, 66376-36-1 2088
19
Ipilimumab Approved Phase 3 477202-00-9
20
nivolumab Approved Phase 3 946414-94-4
21
Pembrolizumab Approved Phase 3 1374853-91-4
22
Irinotecan Approved, Investigational Phase 3 100286-90-6, 97682-44-5 60838
23
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
24
Fluorouracil Approved Phase 3 51-21-8 3385
25
Cetuximab Approved Phase 3 205923-56-4 56842117 2333
26
leucovorin Approved Phase 3 58-05-9 6006
27
Bevacizumab Approved, Investigational Phase 3 216974-75-3
28
Levoleucovorin Approved, Investigational Phase 3 68538-85-2 149436
29
Heparin Approved, Investigational Phase 3 9005-49-6 772 9812414
30
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
31 Pyridostigmine Bromide Phase 3 101-26-8
32 Cholinergic Agents Phase 3
33 Bromides Phase 3
34 Cholinesterase Inhibitors Phase 3
35 Immunosuppressive Agents Phase 3
36 Vitamin B9 Phase 3
37 topoisomerase I inhibitors Phase 3
38 Antidotes Phase 3
39 Vitamin B Complex Phase 3
40 Folate Phase 3
41 Antimetabolites Phase 3
42 Antineoplastic Agents, Immunological Phase 3
43 Angiogenesis Inhibitors Phase 3
44 Anticoagulants Phase 3
45 Fibrinolytic Agents Phase 3
46 calcium heparin Phase 3
47
Atorvastatin Approved Phase 2 134523-00-5 60823
48
tannic acid Approved Phase 2 1401-55-4
49
Testosterone Approved, Investigational Phase 2 58-22-0 6013
50
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337

Interventional clinical trials:

(show top 50) (show all 202)
# Name Status NCT ID Phase Drugs
1 Impact of Exercise on Lung Function in Patients With Chronic Obstructive Pulmonary Disease Unknown status NCT03551197 Phase 4 Budesonide and formoterol bid
2 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
3 Learning Impairments Among Survivors of Childhood Cancer Completed NCT00576472 Phase 4 Methylphenidate
4 Randomized Controlled Study on the Benefits and Safety of Bisphosphonate Treatment in Childhood Cancer Survivors Unknown status NCT00391404 Phase 3 Alendronate;Placebo
5 Maternal Problem-Solving in Childhood Cancer Completed NCT00234793 Phase 3
6 Sleep, Fatigue, and Dexamethosone in Childhood Cancer Completed NCT00075101 Phase 3 Dexamethosone
7 A Phase III Randomized Trial of Radiation +/- Pembrolizumab (MK-3475) for Newly Diagnosed Early Stage High Intermediate Risk Mismatch Repair Deficient (dMMR) Endometrioid Endometrial Cancer Recruiting NCT04214067 Phase 3
8 A Phase 3 Randomized Clinical Trial of Nivolumab Alone, Nivolumab in Combination With Ipilimumab, or an Investigator's Choice Chemotherapy in Participants With Microsatellite Instability High (MSI-H) or Mismatch Repair Deficient (dMMR) Metastatic Colorectal Cancer Recruiting NCT04008030 Phase 3 Oxaliplatin;Leucovorin;Fluorouracil;Irinotecan;Bevacizumab;Cetuximab
9 StepByStep: A Randomized Trial of a Mobile Health and Social Media Physical Activity Intervention Among Adolescent and Young Adult Childhood Cancer Survivors Recruiting NCT04089358 Phase 3
10 A Phase III Study of Pembrolizumab (MK-3475) vs. Chemotherapy in Microsatellite Instability-High (MSI-H) or Mismatch Repair Deficient (dMMR) Stage IV Colorectal Carcinoma (KEYNOTE-177) Active, not recruiting NCT02563002 Phase 3 mFOLFOX6;FOLFIRI
11 EMPOWER Study: Promoting Breast Cancer Screening in Women Who Survived Childhood Cancer Active, not recruiting NCT01579552 Phase 3
12 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
13 Efficacy of Atomoxetine Therapy Versus Placebo For Ameliorating Cognitive Late Effects Among Survivors of Childhood Cancers Withdrawn NCT00255138 Phase 3 Atomoxetine
14 A Phase II Study of Pembrolizumab (MK-3475) as Monotherapy in Subjects With Previously Treated Locally Advanced Unresectable or Metastatic (Stage IV) Mismatched Repair Deficient or Microsatellite Instability-High Colorectal Carcinoma (KEYNOTE-164) Completed NCT02460198 Phase 2
15 Pilot Study of Statin Therapy in Young Adult Survivors of Childhood Cancer Completed NCT01733953 Phase 2 Atorvastatin;Sugar Pill (Placebo)
16 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
17 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
18 A Single-Arm, Multi-Center, Open-Label, Phase 2 Study to Evaluate Efficacy and Safety of Tislelizumab (BGB-A317), an Anti-PD-1 Monoclonal Antibody, as Monotherapy in Patients With Previously-Treated Locally Advanced Unresectable or Metastatic Microsatellite Instability-High (MSI-H) or Mismatch Repair Deficient (dMMR) Solid Tumors Recruiting NCT03736889 Phase 2 Tislelizumab (BGB-A317)
19 Phase 2 Study of Nivolumab and Relatlimab in Advanced Mismatch Repair Deficient Cancers Resistant to Prior PD-(L)1 Inhibitor Recruiting NCT03607890 Phase 2 Nivolumab;Relatlimab;Nivolumab;Relatlimab
20 Phase II Study to Evaluate the Efficacy and Safety of Sirolimus in Subjects With Metastatic, Mismatch Repair Deficient Solid Tumors After Immunotherapy Recruiting NCT04393454 Phase 2 Sirolimus 2Mg Tab
21 A Pilot Study of Toripalimab With or Without Celecoxib as Neoadjuvant Therapy in Resectable Non-metastatic Colorectal Cancer Patients With Mismatch Repair-deficient or Microsatellite Instability-high Recruiting NCT03926338 Phase 1, Phase 2 Neoadjuvant therapy with PD-1 inhibitor plus COX inhibitor;Neoadjuvant therapy with PD-1 inhibitor
22 A Single-arm, Multi-center, Phase Ⅱ Clinical Study to Evaluate the HLX10 Monotherapy for the Treatment of Unresectable or Metastatic Microsatellite Instability-high (MSI-H) or Mismatch Repair Deficient (dMMR) Solid Tumors That Failed to Respond to Standard Therapy Recruiting NCT03941574 Phase 2 HLX10
23 Phase II Trial of Single-Agent Nivolumab in Patients With Microsatellite Unstable/Mismatch Repair Deficient/Hypermutated Uterine Cancer Recruiting NCT03241745 Phase 2 Nivolumab
24 A Randomized Phase II Study of Anti-PD-1 and Limited Metastatic Site Radiation Therapy Versus Anti-PD-1 Alone for Patients With Microsatellite Instability-high (MSI-H) and Mismatch Repair Deficient (dMMR) Metastatic Solid Tumors Recruiting NCT04001101 Phase 2 Anti-PD-1
25 A Single-arm, Open-label, Multicenter, Phase II Study of AK104, a PD-1/CTLA-4 Bispecific Antibody, in Subjects With Locally Advanced Unresectable or Metastatic Microsatellite Instability-High (MSI-H) or Mismatch Repair Deficient (dMMR) Solid Tumors Recruiting NCT04547101 Phase 2 AK104
26 A Phase II Study of Preoperative Pembrolizumab for Mismatch-Repair Deficient and Epstein-Barr Virus Positive Gastric Cancer Followed by Chemotherapy and Chemoradiation With Pembrolizumab Recruiting NCT03257163 Phase 2 Capecitabine
27 A Phase II Study of Induction PD-1 Blockade in Subjects With Locally Advanced Mismatch Repair Deficient Rectal Adenocarcinoma Recruiting NCT04165772 Phase 2 TSR-042;capecitabine or 5-FU
28 Neoadjuvant Pembrolizumab for Patients With Mismatch Repair Deficient Locally Advanced Solid Cancers Recruiting NCT04082572 Phase 2
29 A Phase I/II Study of Regorafenib Plus Avelumab in Solid Tumors Recruiting NCT03475953 Phase 1, Phase 2 Phase 1 : Regorafenib;Phase 1 : Avelumab;Phase 2 : Regorafenib;Phase 2 : Avelumab;Phase 2: low-dose Regorafenib
30 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
31 LCI-HEM-MYE-CRD-004 (MMRC-073 CARJAK): Phase I/II Study of Carfilzomib, Ruxolitinib, and Low Dose Dexamethasone for Carfilzomib-Refractory Multiple Myeloma Recruiting NCT03773107 Phase 1, Phase 2 Carfilzomib;Ruxolitinib;Dexamethasone
32 An Open-Label Pilot Intervention Trial to Prevent Diabetes in Prediabetic Adult Survivors of Childhood Cancer Recruiting NCT04742751 Phase 2 Metformin
33 MATCH Treatment Subprotocol Z1D: Nivolumab in Patients With Tumors With Mismatch Repair Deficiency Active, not recruiting NCT04439214 Phase 2
34 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
35 Phase II Clinical Trial Evaluating Intravenous AZD9150 (Antisense STAT3) With MEDI4736 (Anti-PD-L1) in Patients With Advanced Pancreatic, Non-Small Cell Lung Cancer, and Mismatch Repair Deficient Colorectal Cancer Active, not recruiting NCT02983578 Phase 2 Danvatirsen
36 A Phase II Study of Durvalumab in Patients With Mismatch Repair Deficient or POLE Mutated Metastatic Colorectal Cancer Active, not recruiting NCT03435107 Phase 2 Durvalumab
37 An Open-label, Multicenter, Phase 2 Study of IBI310 in Combination With Sintilimab in Patients With DNA Mismatch Repair Deficient(dMMR) /Microsatellite Instability High (MSI-H)Locally-advanced or Metastatic Colorectal Cancer Active, not recruiting NCT04258111 Phase 2
38 Phase II Prospective Trial of Vaccine Responses in Childhood Cancer Survivors Active, not recruiting NCT00505063 Phase 2
39 Pharmacologic Reversal of Ventricular Remodeling in Childhood Cancer Survivors at Risk for Heart Failure (PREVENT-HF): A Phase 2b Randomized Placebo-Controlled (Carvedilol) Trial Active, not recruiting NCT02717507 Phase 2 Carvedilol
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 Adjuvant Checkpoint Blockade Plus Radiation In Locally Advanced, Mismatch Repair Deficient/Microsatellite Instability-High (MMR-D/MSI-H) Endometrial Cancer Not yet recruiting NCT04774419 Phase 2 TSR-042
42 A Single-arm, Multi-center, Phase Ⅱ Clinical Study to Evaluate Efficacy and Safety of QL1604 Monotherapy for the Treatment of Unresectable or Metastatic Mismatch Repair Deficient (dMMR) or Microsatellite Instability-high (MSI-H) Solid Tumors That Failed to Respond to Standard Therapy Not yet recruiting NCT04326829 Phase 2 QL1604
43 SEN-SURVIVORS: An Open-Label Intervention Trial to Reduce Senescence and Improve Frailty in Adult Survivors of Childhood Cancer Not yet recruiting NCT04733534 Phase 2 Dasatinib plus Quercetin;Fisetin
44 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
45 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
46 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 Unknown status NCT03804541 Phase 1 Ensartinib
47 Phase I Study of Doxorubicin HCl Liposome in Pediatric Patients With Refractory Solid Tumors Completed NCT00019630 Phase 1 doxorubicin HCl liposome
48 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
49 A Phase Ib Biomarker Trial of Naproxen in Patients at Risk for DNA Mismatch Repair Deficient Colorectal Cancer Completed NCT02052908 Phase 1 Naproxen
50 A Pilot Study to Evaluate the Effects of Purple Grape Juice on the Vascular Health of Childhood Cancer Survivors Completed NCT01043939 Phase 1

Search NIH Clinical Center for Mismatch Repair Cancer Syndrome 1

Genetic Tests for Mismatch Repair Cancer Syndrome 1

Genetic tests related to Mismatch Repair Cancer Syndrome 1:

# Genetic test Affiliating Genes
1 Turcot Syndrome 29 MLH1

Anatomical Context for Mismatch Repair Cancer Syndrome 1

MalaCards organs/tissues related to Mismatch Repair Cancer Syndrome 1:

40
Brain, Colon, Eye, Small Intestine, Bone, Lung, Prostate

Publications for Mismatch Repair Cancer Syndrome 1

Articles related to Mismatch Repair Cancer Syndrome 1:

(show top 50) (show all 204)
# Title Authors PMID Year
1
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. 6 57
22692065 2013
2
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 57 6
17440981 2007
3
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 57 6
16283678 2005
4
Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1. 57 6
9927033 1999
5
A homozygous mutation in MSH6 causes Turcot syndrome. 6 61 54
16000562 2005
6
Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome. 61 57
19156169 2009
7
Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. 57 61
1322639 1992
8
Turcot syndrome (glioma polyposis). Case report. 57 61
4056888 1985
9
Turcot syndrome and its characteristic colonic manifestations. 57 61
4006635 1985
10
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1. 6
32773772 2020
11
Effective Immunotherapy of Glioblastoma in an Adolescent with Constitutional Mismatch Repair-Deficiency Syndrome. 6
30764633 2019
12
Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome. 6
28218421 2017
13
Universal molecular screening does not effectively detect Lynch syndrome in clinical practice. 6
28491141 2017
14
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 6
26681312 2016
15
[Retrospective NGS Study in High-risk Hereditary Cancer Patients at Masaryk Memorial Cancer Institute]. 6
26691941 2016
16
Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents. 6
26116798 2015
17
Diagnostic criteria for constitutional mismatch repair deficiency syndrome: suggestions of the European consortium 'care for CMMRD' (C4CMMRD). 57
24737826 2014
18
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 6
24362816 2014
19
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 6
23709753 2013
20
Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency. 6
23629955 2013
21
Expression defect size among unclassified MLH1 variants determines pathogenicity in Lynch syndrome diagnosis. 6
23403630 2013
22
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 6
22949387 2013
23
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 6
22753075 2012
24
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 6
21404117 2011
25
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 6
21120944 2011
26
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 6
20533529 2010
27
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? 57
18709565 2008
28
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 6
18602922 2008
29
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
30
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 6
17557300 2007
31
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 6
17594722 2007
32
Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. 6
17510385 2007
33
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 6
16083711 2005
34
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. 6
15139004 2004
35
Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type. 57
12522551 2003
36
Hereditary non-polyposis colorectal cancer (HNPCC): phenotype-genotype correlation between patients with and without identified mutation. 6
12112654 2002
37
Sixteen rare sequence variants of the hMLH1 and hMSH2 genes found in a cohort of 254 suspected HNPCC (hereditary non-polyposis colorectal cancer) patients: mutations or polymorphisms? 6
11726306 2001
38
Extensive somatic microsatellite mutations in normal human tissue. 6
11389087 2001
39
Germline characterization of early-aged onset of hereditary non-polyposis colorectal cancer. 6
11343035 2001
40
Café-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC? 57
14574005 2001
41
Neurofibromatosis and early onset of cancers in hMLH1-deficient children. 6
9927034 1999
42
Systematic analysis of hMSH2 and hMLH1 in young colon cancer patients and controls. 6
9718327 1998
43
"Turcot's syndrome": phenotype of brain tumors, survival and mode of inheritance. 57
9426707 1998
44
Brain tumor-polyposis syndrome: two genetic diseases? 57
9215849 1997
45
Gastrointestinal polyposis and nonpolyposis syndromes. 57
7619129 1995
46
The molecular basis of Turcot's syndrome. 57
7661930 1995
47
Turcot's syndrome: evidence for linkage to the adenomatous polyposis coli (APC) locus. 57
8208405 1994
48
Turcot's syndrome of glioma and polyposis occurs in the absence of germ line mutations of exons 5 to 9 of the p53 gene. 57
8439970 1993
49
Association between neuroepithelial tumor and multiple intestinal polyposis (Turcot's syndrome): report of a case and critical analysis of the literature. 57
1849239 1991
50
[Craniopharyngioma associated with rectocolonic polyposis: Turcot's syndrome?]. 57
6662328 1983

Variations for Mismatch Repair Cancer Syndrome 1

ClinVar genetic disease variations for Mismatch Repair Cancer Syndrome 1:

6 (show top 50) (show all 179)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MLH1 NM_000249.3(MLH1):c.306+5G>A SNV Pathogenic 90148 rs267607735 GRCh37: 3:37042549-37042549
GRCh38: 3:37001058-37001058
2 MLH1 NM_000249.3(MLH1):c.885-1G>A SNV Pathogenic 580133 rs1553647894 GRCh37: 3:37061800-37061800
GRCh38: 3:37020309-37020309
3 MSH2 NM_000251.2(MSH2):c.868G>T (p.Glu290Ter) SNV Pathogenic 91235 rs587779190 GRCh37: 2:47641483-47641483
GRCh38: 2:47414344-47414344
4 MSH6 MSH6, 3-BP DEL, NT3609 Deletion Pathogenic 8939 GRCh37:
GRCh38:
5 MSH6 NM_000179.2(MSH6):c.3633dup (p.Val1212fs) Duplication Pathogenic 8941 rs587776706 GRCh37: 2:48032831-48032832
GRCh38: 2:47805692-47805693
6 MSH6 NM_000179.3(MSH6):c.1596dup (p.Glu533Ter) Duplication Pathogenic 89205 rs587779217 GRCh37: 2:48026717-48026718
GRCh38: 2:47799578-47799579
7 MLH1 NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs) Microsatellite Pathogenic 89888 rs63750035 GRCh37: 3:37089057-37089058
GRCh38: 3:37047566-37047567
8 MLH1 NM_001167617.2(MLH1):c.-413_-412delinsAC Indel Pathogenic 17105 rs121912965 GRCh37: 3:37035142-37035143
GRCh38: 3:36993651-36993652
9 PMS2 NM_000535.7(PMS2):c.1306dup (p.Ser436fs) Duplication Pathogenic 91300 rs63750106 GRCh37: 7:6027089-6027090
GRCh38: 7:5987458-5987459
10 MLH1 NM_000249.3(MLH1):c.218T>G (p.Leu73Arg) SNV Pathogenic 42192 rs397514684 GRCh37: 3:37042456-37042456
GRCh38: 3:37000965-37000965
11 PMS2 NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) SNV Pathogenic 9237 rs63751466 GRCh37: 7:6017260-6017260
GRCh38: 7:5977629-5977629
12 PMS2 NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) SNV Pathogenic 9245 rs121434629 GRCh37: 7:6045549-6045549
GRCh38: 7:6005918-6005918
13 MSH6 NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) SNV Pathogenic 183723 rs786201042 GRCh37: 2:48010382-48010382
GRCh38: 2:47783243-47783243
14 PMS2 NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) SNV Pathogenic 127796 rs587780062 GRCh37: 7:6035245-6035245
GRCh38: 7:5995614-5995614
15 PMS2 NM_000535.7(PMS2):c.251-2A>T SNV Pathogenic 183893 rs587779340 GRCh37: 7:6043425-6043425
GRCh38: 7:6003794-6003794
16 PMS2 NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) SNV Pathogenic 9245 rs121434629 GRCh37: 7:6045549-6045549
GRCh38: 7:6005918-6005918
17 PMS2 NM_000535.7(PMS2):c.2T>A (p.Met1Lys) SNV Pathogenic 182809 rs587780059 GRCh37: 7:6048649-6048649
GRCh38: 7:6009018-6009018
18 MSH6 NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) SNV Pathogenic 183723 rs786201042 GRCh37: 2:48010382-48010382
GRCh38: 2:47783243-47783243
19 PMS2 NM_000535.7(PMS2):c.24-2A>C SNV Pathogenic 976084 GRCh37: 7:6045664-6045664
GRCh38: 7:6006033-6006033
20 PMS2 NM_000535.6:c.(988+1_989-1)_(1144+1_1145-1)del Deletion Pathogenic 977322 GRCh37:
GRCh38:
21 MLH1 NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) SNV Pathogenic 17097 rs63750899 GRCh37: 3:37090053-37090053
GRCh38: 3:37048562-37048562
22 MLH1 NM_000249.3(MLH1):c.199G>T (p.Gly67Trp) SNV Pathogenic 17088 rs63750206 GRCh37: 3:37038192-37038192
GRCh38: 3:36996701-36996701
23 MLH1 MLH1, EX16DEL Deletion Pathogenic 17091 GRCh37:
GRCh38:
24 PMS2 NM_000535.7(PMS2):c.1164del (p.His388fs) Deletion Pathogenic 480324 rs1554298082 GRCh37: 7:6027232-6027232
GRCh38: 7:5987601-5987601
25 PMS2 NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) SNV Pathogenic 142650 rs141577476 GRCh37: 7:6045598-6045598
GRCh38: 7:6005967-6005967
26 MSH2 NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del) Deletion Pathogenic 91136 rs63750088 GRCh37: 2:47637424-47637432
GRCh38: 2:47410285-47410293
27 MSH6 NM_000179.3(MSH6):c.1438dup (p.Val480fs) Duplication Pathogenic 998234 GRCh37: 2:48026559-48026560
GRCh38: 2:47799420-47799421
28 PMS2 NM_000535.7(PMS2):c.1A>G (p.Met1Val) SNV Pathogenic 91323 rs587779333 GRCh37: 7:6048650-6048650
GRCh38: 7:6009019-6009019
29 MLH1 NM_000249.3(MLH1):c.116+1G>A SNV Pathogenic 89656 rs267607709 GRCh37: 3:37035155-37035155
GRCh38: 3:36993664-36993664
30 MSH2 NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) SNV Pathogenic 90804 rs63750508 GRCh37: 2:47702265-47702265
GRCh38: 2:47475126-47475126
31 MSH2 NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) SNV Pathogenic 1764 rs63750875 GRCh37: 2:47702310-47702310
GRCh38: 2:47475171-47475171
32 MSH6 NM_000179.3(MSH6):c.3103C>T SNV Pathogenic 89338 rs63749999 GRCh37: 2:48028225-48028225
GRCh38: 2:47801086-47801086
33 MLH1 NM_000249.4(MLH1):c.1846_1848AAG[2] (p.Lys618del) Microsatellite Pathogenic 17080 rs63751247 GRCh37: 3:37089130-37089132
GRCh38: 3:37047632-37047634
34 PMS2 NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) SNV Pathogenic 91320 rs63751422 GRCh37: 7:6026469-6026469
GRCh38: 7:5986838-5986838
35 MSH2 NM_000251.2(MSH2):c.1076+1G>A SNV Pathogenic 90519 rs267607940 GRCh37: 2:47643569-47643569
GRCh38: 2:47416430-47416430
36 MSH2 NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) SNV Pathogenic 90554 rs63749849 GRCh37: 2:47656951-47656951
GRCh38: 2:47429812-47429812
37 MSH2 NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) SNV Pathogenic 1755 rs63751108 GRCh37: 2:47657020-47657020
GRCh38: 2:47429881-47429881
38 MSH2 NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter) SNV Pathogenic 90903 rs63750636 GRCh37: 2:47703631-47703631
GRCh38: 2:47476492-47476492
39 MSH6 NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) SNV Pathogenic 89312 rs63751017 GRCh37: 2:48027853-48027853
GRCh38: 2:47800714-47800714
40 MSH6 NM_000179.3(MSH6):c.3202C>T SNV Pathogenic 89352 rs63749843 GRCh37: 2:48030588-48030588
GRCh38: 2:47803449-47803449
41 PMS2 NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) SNV Pathogenic 91382 rs200640585 GRCh37: 7:6031649-6031649
GRCh38: 7:5992018-5992018
42 PMS2 NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) Indel Pathogenic 91366 rs267608150 GRCh37: 7:6037019-6037024
GRCh38: 7:5997388-5997393
43 MLH1 NM_000249.3(MLH1):c.588+5G>A SNV Pathogenic 90285 rs267607768 GRCh37: 3:37053358-37053358
GRCh38: 3:37011867-37011867
44 MLH1 NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter) SNV Pathogenic 36540 rs63750540 GRCh37: 3:37067470-37067470
GRCh38: 3:37025979-37025979
45 MLH1 NM_000249.4(MLH1):c.1459C>T SNV Pathogenic 89744 rs63749795 GRCh37: 3:37070324-37070324
GRCh38: 3:37028833-37028833
46 MLH1 NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) SNV Pathogenic 17099 rs63750217 GRCh37: 3:37090446-37090446
GRCh38: 3:37048955-37048955
47 PMS2 NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs) Microsatellite Pathogenic 91375 rs267608154 GRCh37: 7:6035204-6035207
GRCh38: 7:5995573-5995576
48 PMS2 NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) SNV Pathogenic 9234 rs63750871 GRCh37: 7:6042221-6042221
GRCh38: 7:6002590-6002590
49 PMS2 NM_000535.7(PMS2):c.1831dup (p.Ile611fs) Duplication Pathogenic 91317 rs63750250 GRCh37: 7:6026564-6026565
GRCh38: 7:5986933-5986934
50 PMS2 NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) Indel Pathogenic 91366 rs267608150 GRCh37: 7:6037019-6037024
GRCh38: 7:5997388-5997393

UniProtKB/Swiss-Prot genetic disease variations for Mismatch Repair Cancer Syndrome 1:

72
# 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

Cosmic variations for Mismatch Repair Cancer Syndrome 1:

9 (show top 50) (show all 20449)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM85192834 ZW10 central nervous system,brain,glioma,glioblastoma multiforme c.2140C>T p.P714S 11:113736699-113736699 12
2 COSM86922763 ZSWIM4 central nervous system,brain,glioma,glioblastoma multiforme c.266C>T p.P89L 19:13799832-13799832 12
3 COSM88263742 ZRSR2 central nervous system,brain,glioma,glioblastoma multiforme c.340C>T p.Q114* 23:15804138-15804138 12
4 COSM88261602 ZRSR2 central nervous system,brain,glioma,glioblastoma multiforme c.961C>T p.P321S 23:15822754-15822754 12
5 COSM88261596 ZRSR2 central nervous system,brain,glioma,glioblastoma multiforme c.271G>A p.E91K 23:15803755-15803755 12
6 COSM87830624 ZPLD1 central nervous system,brain,glioma,glioblastoma multiforme c.393A>T p.G131= 3:102456210-102456210 12
7 COSM119316158 ZPLD1 central nervous system,brain,glioma,glioblastoma multiforme c.345A>T p.G115= 3:102456210-102456210 12
8 COSM116178212 ZPLD1 central nervous system,brain,glioma,glioblastoma multiforme c.345A>T p.G115= 3:102456210-102456210 12
9 COSM106156998 ZNF697 central nervous system,brain,glioma,glioblastoma multiforme c.1550G>A p.G517D 1:119622793-119622793 12
10 COSM93171584 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.3651C>T p.T1217= 1:151291146-151291146 12
11 COSM93173649 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.2044T>A p.C682S 1:151288335-151288335 12
12 COSM93173639 ZNF687 central nervous system,brain,glioma,glioblastoma multiforme c.2043G>C p.Q681H 1:151288334-151288334 12
13 COSM92762364 ZNF507 central nervous system,brain,glioma,glioblastoma multiforme c.1517G>C p.R506T 19:32354347-32354347 12
14 COSM91851905 ZNF507 central nervous system,brain,glioma,glioblastoma multiforme c.1517G>C p.R506T 19:32354347-32354347 12
15 COSM130988554 ZNF507 central nervous system,brain,glioma,glioblastoma multiforme c.1517G>C p.R506T 19:32354347-32354347 12
16 COSM141250987 ZNF473 central nervous system,brain,glioma,glioblastoma multiforme c.42C>T p.D14= 19:50039193-50039193 12
17 COSM84172269 ZNF473 central nervous system,brain,glioma,glioblastoma multiforme c.42C>T p.D14= 19:50039193-50039193 12
18 COSM141790125 ZNF473 central nervous system,brain,glioma,glioblastoma multiforme c.42C>T p.D14= 19:50039193-50039193 12
19 COSM99924035 ZNF473 central nervous system,brain,glioma,glioblastoma multiforme c.42C>T p.D14= 19:50039193-50039193 12
20 COSM111538647 ZNF473 central nervous system,brain,glioma,glioblastoma multiforme c.6C>T p.D2= 19:50039193-50039193 12
21 COSM84507966 ZNF276 central nervous system,brain,glioma,glioblastoma multiforme c.*664G>A p.? 16:89738910-89738910 12
22 COSM102909520 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2116G>A p.D706N 20:47246116-47246116 12
23 COSM116582422 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2176G>A p.D726N 20:47246116-47246116 12
24 COSM92864918 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2102T>G p.V701G 20:47246130-47246130 12
25 COSM111370233 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2116G>A p.D706N 20:47246116-47246116 12
26 COSM91410147 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2116G>A p.D706N 20:47246116-47246116 12
27 COSM97055096 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.1913T>G p.V638G 20:47246130-47246130 12
28 COSM112970642 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2176G>A p.D726N 20:47246116-47246116 12
29 COSM92871777 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2116G>A p.D706N 20:47246116-47246116 12
30 COSM85475347 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2102T>G p.V701G 20:47246130-47246130 12
31 COSM143801239 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2041G>A p.D681N 20:47246116-47246116 12
32 COSM114834078 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2087T>G p.V696G 20:47246130-47246130 12
33 COSM114839982 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2101G>A p.D701N 20:47246116-47246116 12
34 COSM91535436 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2176G>A p.D726N 20:47246116-47246116 12
35 COSM91528627 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2162T>G p.V721G 20:47246130-47246130 12
36 COSM133275210 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.1960G>A p.D654N 20:47246116-47246116 12
37 COSM143618110 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2116G>A p.D706N 20:47246116-47246116 12
38 COSM111362863 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2102T>G p.V701G 20:47246130-47246130 12
39 COSM91401933 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2102T>G p.V701G 20:47246130-47246130 12
40 COSM130874736 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2197G>A p.D733N 20:47246116-47246116 12
41 COSM116576154 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2162T>G p.V721G 20:47246130-47246130 12
42 COSM143862983 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2101G>A p.D701N 20:47246116-47246116 12
43 COSM143796197 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2027T>G p.V676G 20:47246130-47246130 12
44 COSM102902986 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2102T>G p.V701G 20:47246130-47246130 12
45 COSM133265728 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.1946T>G p.V649G 20:47246130-47246130 12
46 COSM85483642 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2116G>A p.D706N 20:47246116-47246116 12
47 COSM112964306 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2162T>G p.V721G 20:47246130-47246130 12
48 COSM143856741 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2087T>G p.V696G 20:47246130-47246130 12
49 COSM97063132 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.1927G>A p.D643N 20:47246116-47246116 12
50 COSM97592467 ZMYND8 central nervous system,brain,glioma,glioblastoma multiforme c.2087T>G p.V696G 20:47246130-47246130 12

Expression for Mismatch Repair Cancer Syndrome 1

Search GEO for disease gene expression data for Mismatch Repair Cancer Syndrome 1.

Pathways for Mismatch Repair Cancer Syndrome 1

Pathways related to Mismatch Repair Cancer Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Mismatch repair hsa03430
2 Colorectal cancer hsa05210
3 Endometrial cancer hsa05213

Pathways related to Mismatch Repair Cancer Syndrome 1 according to GeneCards Suite gene sharing:

(show all 20)
# 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
Show member pathways
12.05 PTEN CTNNB1 APC
6 11.98 PAX3 CTNNB1 APC
7 11.89 PTEN MSH6 MSH2 CTNNB1
8 11.87 MSH6 MSH2 MLH1 CTNNB1 APC
9 11.73 PTEN CTNNB1 APC
10 11.7 PTEN CTNNB1 APC
11 11.67 PTEN PMS2 MSH2 MLH1 APC
12 11.5 MSH6 MSH2 MLH1
13 11.27 PTEN MSH6 MSH2
14
Show member pathways
11.19 MSH2 MLH1
15 11.15 PTEN APC
16 11.04 CTNNB1 APC
17
Show member pathways
11 PMS2 PMS1 MSH6 MSH2 MLH1
18 10.92 CTNNB1 APC
19 10.78 CTNNB1 APC
20 10.72 PMS2 MSH6 MSH2 MLH1

GO Terms for Mismatch Repair Cancer Syndrome 1

Cellular components related to Mismatch Repair Cancer Syndrome 1 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 9.61 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 MutLalpha complex GO:0032389 9.32 PMS2 MLH1
7 MutSalpha complex GO:0032301 9.16 MSH6 MSH2
8 mismatch repair complex GO:0032300 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

Biological processes related to Mismatch Repair Cancer Syndrome 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.87 PTEN PAX3 CTNNB1 APC
2 response to drug GO:0042493 9.81 PTEN PMS2 PMS1 CTNNB1
3 DNA repair GO:0006281 9.77 PMS2 PMS1 MSH6 MSH2 MLH1
4 cellular response to DNA damage stimulus GO:0006974 9.73 PMS2 PMS1 MSH6 MSH2 MLH1 APC
5 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MSH6 MSH2 MLH1
6 cell fate specification GO:0001708 9.58 CTNNB1 APC
7 negative regulation of cyclin-dependent protein serine/threonine kinase activity GO:0045736 9.58 PTEN APC
8 beta-catenin destruction complex disassembly GO:1904886 9.56 CTNNB1 APC
9 determination of adult lifespan GO:0008340 9.55 MSH6 MSH2
10 negative regulation of DNA recombination GO:0045910 9.54 MSH6 MSH2
11 positive regulation of isotype switching to IgG isotypes GO:0048304 9.52 MSH2 MLH1
12 isotype switching GO:0045190 9.5 MSH6 MSH2 MLH1
13 positive regulation of helicase activity GO:0051096 9.49 MSH6 MSH2
14 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MSH2 MLH1
15 maintenance of DNA repeat elements GO:0043570 9.46 MSH6 MSH2
16 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MSH2 MLH1
17 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MSH6 MSH2 MLH1
18 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 PMS2 MSH6 MSH2 MLH1
19 mismatch repair GO:0006298 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

Molecular functions related to Mismatch Repair Cancer Syndrome 1 according to GeneCards Suite gene sharing:

(show all 16)
# 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 9.8 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 9.56 MSH6 MSH2
8 DNA-dependent ATPase activity GO:0008094 9.55 MSH6 MSH2
9 four-way junction DNA binding GO:0000400 9.51 MSH6 MSH2
10 MutSalpha complex binding GO:0032407 9.46 PMS2 MLH1
11 MutLalpha complex binding GO:0032405 9.43 MSH6 MSH2
12 oxidized purine DNA binding GO:0032357 9.4 MSH6 MSH2
13 single guanine insertion binding GO:0032142 9.37 MSH6 MSH2
14 single thymine insertion binding GO:0032143 9.32 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

Sources for Mismatch Repair Cancer Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....