HNPCC1
MCID: CLR070
MIFTS: 55

Colorectal Cancer, Hereditary Nonpolyposis, Type 1 (HNPCC1) malady

Categories: Genetic diseases, Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Aliases & Descriptions for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 1 54 13 69
Hereditary Non-Polyposis Colorectal Cancer 1 66 29
Lynch Syndrome Type Ii 66 29
Lynch Syndrome Type I 66 29
Colorectal Cancer, Hereditary Nonpolyposis, Type 3 69
Hereditary Non-Polyposis Colorectal Cancer 3 66
Hereditary Non-Polyposis Colon Cancer Type 2 69
Hereditary Nonpolyposis Colorectal Cancer 69
Lynch Cancer Family Syndrome 66
Lynch Syndrome Ii 52
Lynch Syndrome I 52
Lynch Syndrome 66
Hnpcc3 66
Hnpcc1 66

Characteristics:

HPO:

32
colorectal cancer, hereditary nonpolyposis, type 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 120435
MeSH 42 D003123

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

OMIM : 54 Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic... (120435) more...

MalaCards based summary : Colorectal Cancer, Hereditary Nonpolyposis, Type 1, also known as hereditary non-polyposis colorectal cancer 1, is related to colorectal cancer and lynch syndrome, and has symptoms including colon cancer An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 1 is MSH2 (MutS Homolog 2), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Formation of HIV elongation complex in the absence of HIV Tat. The drugs Bevacizumab and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and breast, and related phenotypes are Decreased viability and cellular

UniProtKB/Swiss-Prot : 66 Hereditary non-polyposis colorectal cancer 1: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 1 family:

Colorectal Cancer, Hereditary Nonpolyposis, Type 8 Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
id Related Disease Score Top Affiliating Genes
1 colorectal cancer 27.9 BRCA1 BRCA2 EPCAM MLH1 MLH3 MSH2
2 lynch syndrome 11.2
3 gastric cancer, somatic 10.9
4 skin melanoma 10.2 MLH1 MSH2
5 aorta atresia 10.2 MLH1 MSH2
6 fibrolamellar carcinoma 10.2 MLH1 MSH2
7 familial hypopituitarism 10.2 MLH1 MSH2
8 neurocutaneous melanosis, somatic 10.2 MLH1 MSH2
9 autoimmune autonomic ganglionopathy 10.2 MSH2 MSH6
10 trypanosomiasis 10.2 MLH1 MSH6
11 collecting duct carcinoma 10.2 MLH1 MSH2
12 cardiomyopathy, dilated, 1r 10.2 MSH2 MSH6
13 cask-related disorders 10.2 MSH6 PMS2
14 malignant spindle cell melanoma 10.1 MLH1 MSH2
15 uterine corpus endometrial stromal sarcoma 10.1 BRCA1 MLH1
16 benign fibrous mesothelioma 10.1 MLH1 MSH2 MSH6
17 churg-strauss syndrome 10.1 MLH1 MSH2 MSH6
18 neuroretinitis 10.1 MLH1 MSH2 MSH6
19 skin papilloma 10.1 MLH1 MSH2 MSH6
20 asperger syndrome 10.1 MLH1 MSH2 MSH6
21 ideomotor apraxia 10.0 MLH1 MSH2
22 aorto-ventricular tunnel 10.0 BRCA1 BRCA2
23 burn scar 10.0 BRCA1 BRCA2
24 kunjin encephalitis 10.0 BRCA1 BRCA2
25 lethal congenital contracture syndrome 7 10.0 BRCA1 BRCA2
26 autoimmune disease of cardiovascular system 10.0 BRCA1 BRCA2
27 heart malignant hemangiopericytoma 10.0 BRCA1 BRCA2
28 bronchogenic cyst 10.0 BRCA1 BRCA2
29 lung clear cell-sugar-tumor 10.0 BRCA1 BRCA2
30 bronchiectasis oligospermia 10.0 BRCA1 BRCA2
31 pancreatic invasive mucinous cystadenocarcinoma 10.0 BRCA2 PMS2
32 chronic endophthalmitis 10.0 BRCA1 BRCA2
33 breast pericanalicular fibroadenoma 9.9 BRCA1 BRCA2
34 eccrine sweat gland neoplasm 9.9 BRCA1 BRCA2
35 villoglandular endometrial endometrioid adenocarcinoma 9.9 BRCA1 BRCA2
36 paraphimosis 9.9 BRCA1 BRCA2
37 frontal sinusitis 9.9 BRCA1 BRCA2
38 bladder colloid adenocarcinoma 9.9 BRCA1 BRCA2
39 syndromic x-linked intellectual disability 14 9.9 BRCA1 BRCA2
40 polyembryoma of the ovary 9.9 BRCA1 BRCA2
41 nemaline myopathy 8, autosomal recessive 9.9 BRCA1 BRCA2
42 mediastinum synovial sarcoma 9.9 BRCA1 BRCA2
43 fallopian tube carcinosarcoma 9.9 BRCA1 BRCA2
44 large intestine adenoma 9.9 MLH1 MSH2 MSH6 PMS2
45 cauda equina neoplasm 9.9 MLH1 MSH2 MSH6 PMS2
46 neurofibromatosis-noonan syndrome 9.9 MLH1 MSH2 MSH6 PMS2
47 mismatch repair cancer syndrome 9.9 MLH1 MSH2 MSH6 PMS2
48 fibromatosis, gingival, 1 9.9 MLH1 MSH2 MSH6 PMS2
49 hnrnpa1-related amyotrophic lateral sclerosis 9.9 MLH1 MSH2 MSH6 PMS2
50 wolffian duct adenoma 9.9 MLH1 MSH2 MSH6 PMS2

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:



Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Symptoms by clinical synopsis from OMIM:

120435

Clinical features from OMIM:

120435

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

32
id Description HPO Frequency HPO Source Accession
1 colon cancer 32 HP:0003003

GenomeRNAi Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 9.72 BRCA1
2 Decreased viability GR00221-A-3 9.72 BRCA1
3 Decreased viability GR00301-A 9.72 BRCA1 MLH3 MSH2
4 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.7 BRCA1 BRCA2 MLH1 MLH3 MSH2 MSH6
5 Decreased viability with cisplatin GR00101-A-4 9.26 BRCA1 BRCA2
6 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 BRCA2
7 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.92 MLH1 MLH3 MSH6 PMS2

MGI Mouse Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.95 BRCA1 BRCA2 EPCAM MLH1 MSH2 MSH6
2 digestive/alimentary MP:0005381 9.85 PMS2 BRCA1 BRCA2 EPCAM MLH1 MSH2
3 endocrine/exocrine gland MP:0005379 9.8 BRCA1 BRCA2 EPCAM MLH1 MLH3 PMS2
4 homeostasis/metabolism MP:0005376 9.8 BRCA1 BRCA2 EPCAM MLH1 MSH2 MSH6
5 integument MP:0010771 9.55 BRCA1 BRCA2 MLH1 MSH2 MSH6
6 mortality/aging MP:0010768 9.5 BRCA1 BRCA2 EPCAM MLH1 MSH2 MSH6
7 neoplasm MP:0002006 9.1 BRCA1 BRCA2 MLH1 MSH2 MSH6 PMS2

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Drugs for Colorectal Cancer, Hereditary Nonpolyposis, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 45)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 3 216974-75-3
2
Fluorouracil Approved Phase 3 51-21-8 3385
3
Levoleucovorin Approved Phase 3 68538-85-2
4
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599, 9887054 43805
5
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
7
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
8 Angiogenesis Inhibitors Phase 3
9 Angiogenesis Modulating Agents Phase 3
10 Antibodies Phase 3,Phase 2
11 Antibodies, Monoclonal Phase 3,Phase 2
12 Antidotes Phase 3
13 Antimetabolites Phase 3
14 Antimetabolites, Antineoplastic Phase 3
15 Bone Density Conservation Agents Phase 3
16 Calcium, Dietary Phase 3
17 Endothelial Growth Factors Phase 3
18 Hematinics Phase 3
19 Immunoglobulin G Phase 3
20 Immunoglobulins Phase 3,Phase 2
21 Immunosuppressive Agents Phase 3
22 Micronutrients Phase 3
23 Mitogens Phase 3
24 Protective Agents Phase 3
25 Trace Elements Phase 3
26 Vitamin B Complex Phase 3
27 Vitamins Phase 3
28 Analgesics Phase 3
29 Analgesics, Non-Narcotic Phase 3
30 Anti-Inflammatory Agents Phase 3
31 Anti-Inflammatory Agents, Non-Steroidal Phase 3
32 Antipyretics Phase 3
33 Antirheumatic Agents Phase 3
34 Cyclooxygenase Inhibitors Phase 3
35 Fibrinolytic Agents Phase 3
36 Peripheral Nervous System Agents Phase 3
37 Platelet Aggregation Inhibitors Phase 3
38 Acetylsalicylic acid lysinate Phase 3
39 Cola Nutraceutical Phase 3
40 Folate Nutraceutical Phase 3
41 Vitamin B9 Nutraceutical Phase 3
42
nivolumab Approved Phase 2 946414-94-4
43
Pembrolizumab Approved 1374853-91-4
44
Pancrelipase Approved 53608-75-6
45 pancreatin

Interventional clinical trials:

(show all 13)
id Name Status NCT ID Phase
1 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3
2 Finding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers Not yet recruiting NCT02497820 Phase 3
3 Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome Not yet recruiting NCT02813824 Phase 3
4 Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair or Microsatellite Instability Not yet recruiting NCT02912559 Phase 3
5 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Not yet recruiting NCT02978625 Phase 2
6 Hypodontia and Ovarian Cancer Unknown status NCT01470235
7 Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) Patients Completed NCT00582452
8 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
9 Ohio Colorectal Cancer Prevention Initiative Recruiting NCT01850654
10 Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, or Hypermutated Brain Tumors Recruiting NCT02359565
11 Pancreatic Cancer Early Detection Program Recruiting NCT02206360
12 Integrated Cancer Repository for Cancer Research Recruiting NCT02012699
13 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632

Search NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

id Genetic test Affiliating Genes
1 Lynch Syndrome Ii 29
2 Lynch Syndrome I 29
3 Colorectal Cancer, Hereditary, Nonpolyposis, Type 1 29

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

39
Colon, Skin, Breast, Ovary, Small Intestine, Uterus

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

66 (show top 50) (show all 69)
id Symbol AA change Variation ID SNP ID
1 MSH2 p.His46Gln VAR_004470 rs33946261
2 MSH2 p.Asn139Ser VAR_004472
3 MSH2 p.Asp167His VAR_004474 rs63750255
4 MSH2 p.Ala305Thr VAR_004476 rs63751454
5 MSH2 p.Arg524Pro VAR_004479 rs63751207
6 MSH2 p.Glu562Val VAR_004480 rs63750997
7 MSH2 p.Pro622Leu VAR_004482 rs28929483
8 MSH2 p.His639Tyr VAR_004483 rs28929484
9 MSH2 p.Gly674Ser VAR_004485 rs63750234
10 MSH2 p.Cys697Phe VAR_004486 rs63750398
11 MSH2 p.Ala834Thr VAR_004488 rs63750757
12 MSH2 p.Gly692Arg VAR_009250 rs63750232
13 MSH2 p.Cys697Arg VAR_009251 rs63750961
14 MSH2 p.Val161Asp VAR_012936 rs63750126
15 MSH2 p.Asp506Tyr VAR_012941 rs63750492
16 MSH2 p.Ala636Pro VAR_012944 rs63750875
17 MSH2 p.Met688Ile VAR_012945 rs63750790
18 MSH2 p.Lys845Glu VAR_013172 rs63750571
19 MSH2 p.Asn127Ser VAR_019234 rs17217772
20 MSH2 p.Val163Gly VAR_022670 rs63750214
21 MSH2 p.Asp660Gly VAR_022671
22 MSH2 p.Thr33Pro VAR_043738 rs63751107
23 MSH2 p.Leu93Phe VAR_043743 rs63751429
24 MSH2 p.Val102Ile VAR_043745 rs193922373
25 MSH2 p.Lys110Thr VAR_043746
26 MSH2 p.Gly162Arg VAR_043747 rs63750624
27 MSH2 p.Val163Asp VAR_043748 rs63750214
28 MSH2 p.Gly164Arg VAR_043749 rs63750582
29 MSH2 p.Leu173Pro VAR_043751 rs63750070
30 MSH2 p.Leu175Pro VAR_043752 rs63751291
31 MSH2 p.Leu187Pro VAR_043753 rs63751444
32 MSH2 p.Asp283Tyr VAR_043757 rs63750381
33 MSH2 p.Cys333Tyr VAR_043759 rs63750828
34 MSH2 p.Pro336Ser VAR_043761 rs63751062
35 MSH2 p.Pro349Leu VAR_043763 rs587779067
36 MSH2 p.Arg359Ser VAR_043764 rs63751617
37 MSH2 p.Lys393Met VAR_043765
38 MSH2 p.Met492Val VAR_043767
39 MSH2 p.Thr552Pro VAR_043768 rs63750838
40 MSH2 p.Asn583Ser VAR_043770 rs201118107
41 MSH2 p.Ala600Val VAR_043771 rs63751236
42 MSH2 p.Asp603Asn VAR_043772 rs63750657
43 MSH2 p.His639Arg VAR_043775 rs587779116
44 MSH2 p.Glu647Lys VAR_043776
45 MSH2 p.Tyr656His VAR_043777
46 MSH2 p.Ile679Thr VAR_043779
47 MSH2 p.Ser723Phe VAR_043781 rs63750794
48 MSH2 p.Met729Val VAR_043782
49 MSH2 p.Thr732Ile VAR_043783
50 MSH2 p.Glu749Lys VAR_043785 rs63751477

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

6 (show top 50) (show all 1445)
id Gene Variation Type Significance SNP ID Assembly Location
1 MSH2 NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu) single nucleotide variant Pathogenic rs28929483 GRCh37 Chromosome 2, 47702269: 47702269
2 MSH2 MSH2, DEL 50 CODONS deletion Pathogenic
3 MSH2 NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter) single nucleotide variant Pathogenic rs63751108 GRCh37 Chromosome 2, 47657020: 47657020
4 MSH2 NM_000251.2(MSH2): c.1915C> T (p.His639Tyr) single nucleotide variant Pathogenic rs28929484 GRCh37 Chromosome 2, 47702319: 47702319
5 MSH2 NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del) deletion Pathogenic rs63749831 GRCh37 Chromosome 2, 47702190: 47702192
6 MSH2 NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter) single nucleotide variant Pathogenic rs63750047 GRCh37 Chromosome 2, 47702205: 47702205
7 MSH2 NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro) single nucleotide variant Likely pathogenic rs63751207 GRCh37 Chromosome 2, 47693857: 47693857
8 MSH2 NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs) deletion Pathogenic rs63749811 GRCh37 Chromosome 2, 47703613: 47703613
9 MSH2 NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs) duplication Pathogenic rs587776529 GRCh37 Chromosome 2, 47635597: 47635618
10 MSH2 NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro) single nucleotide variant Pathogenic rs63750875 GRCh37 Chromosome 2, 47702310: 47702310
11 MSH2 MSH2, 24-BP INS insertion Pathogenic
12 MSH2 MSH2, EX1-6 DEL deletion Pathogenic
13 MSH2 NM_000251.2(MSH2): c.454delA (p.Met152Cysfs) deletion Pathogenic rs63751449 GRCh37 Chromosome 2, 47637320: 47637320
14 MSH2 nsv513794 deletion Pathogenic
15 MSH2 NG_007110.2: g.4247_24291del20045 deletion Pathogenic GRCh37 Chromosome 2, 47629509: 47649553
16 MSH2 MSH2, 32-KB DEL, EX1-6 deletion Pathogenic
17 MSH6 NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs) duplication Pathogenic rs63750955 GRCh37 Chromosome 2, 48025773: 48025773
18 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh37 Chromosome 7, 6042221: 6042221
19 PMS2 NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs) deletion Pathogenic rs587776715 GRCh37 Chromosome 7, 6027175: 6027175
20 PMS2 NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh37 Chromosome 7, 6017260: 6017260
21 PMS2 NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs) deletion Pathogenic rs63750049 GRCh38 Chromosome 7, 5989923: 5989923
22 PMS2 NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs63750451 GRCh37 Chromosome 7, 6026514: 6026514
23 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh37 Chromosome 7, 6045549: 6045549
24 MLH1 NM_000249.3(MLH1): c.755C> A (p.Ser252Ter) single nucleotide variant Pathogenic rs63750198 GRCh37 Chromosome 3, 37056000: 37056000
25 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 GRCh37 Chromosome 3, 37038124: 37038124
26 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh37 Chromosome 3, 37089130: 37089132
27 MLH1 MLH1, 3.5-KB DEL deletion Pathogenic
28 MLH1 MLH1, IVS5, G-A, -1 single nucleotide variant Pathogenic
29 MLH1 NM_000249.3(MLH1): c.1667+1_1667+8delinsATTT indel Pathogenic rs863223312 GRCh38 Chromosome 3, 37040295: 37040302
30 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 GRCh37 Chromosome 3, 37061902: 37061902
31 MLH1 MLH1, 1-BP DEL, 1784T deletion Pathogenic
32 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh37 Chromosome 3, 37053589: 37053589
33 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh37 Chromosome 3, 37038192: 37038192
34 MLH1 MLH1, EX16DEL deletion Pathogenic
35 MLH1 MLH1, HYPERMETHYLATION undetermined variant Pathogenic
36 MLH1 MLH1, -42, C-T single nucleotide variant Pathogenic
37 MLH1 NM_000249.3(MLH1): c.350C> T (p.Thr117Met) single nucleotide variant Pathogenic rs63750781 GRCh37 Chromosome 3, 37045935: 37045935
38 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh37 Chromosome 3, 37090053: 37090053
39 MLH1 NM_000249.3(MLH1): c.806C> G (p.Ser269Ter) single nucleotide variant Pathogenic rs63750691 GRCh37 Chromosome 3, 37059012: 37059012
40 MLH1 NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr) single nucleotide variant Pathogenic rs63750217 GRCh37 Chromosome 3, 37090446: 37090446
41 MLH1 MLH1, 3-BP DEL, 213AGA deletion Pathogenic
42 MLH1 MLH1, EX18DEL deletion Pathogenic
43 MLH1 MLH1, EPIGENETICALLY SILENCED undetermined variant Pathogenic
44 MLH1 MLH1, EPIGENETICALLY SILENCED INHERITED undetermined variant Pathogenic
45 MLH1 MLH1, 2-BP DEL, 593AG deletion Pathogenic
46 MLH1 NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn) indel Pathogenic rs121912965 GRCh37 Chromosome 3, 37035142: 37035143
47 MLH1 NM_000249.3(MLH1): c.200G> A (p.Gly67Glu) single nucleotide variant Pathogenic rs63749939 GRCh37 Chromosome 3, 37038193: 37038193
48 MLH1 NM_000249.3(MLH1): c.793C> T (p.Arg265Cys) single nucleotide variant Pathogenic rs63751194 GRCh37 Chromosome 3, 37058999: 37058999
49 MLH1 MLH1, 11.6-KB DEL deletion Pathogenic
50 MLH1 NM_000249.3(MLH1): c.1865T> A (p.Leu622His) single nucleotide variant Pathogenic rs63750693 GRCh37 Chromosome 3, 37089143: 37089143

Cosmic variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 1:

9
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM550 KRAS urinary tract,NS,carcinoma,undifferentiated carcinoma c.181C>G p.Q61E 3

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 1.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Pathways related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

(show all 20)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 BRCA1 BRCA2 MLH1 MSH2 MSH6 PMS2
2
Show member pathways
12.85 BRCA1 MLH1 MSH2 PMS2
3
Show member pathways
12.68 BRCA1 MLH1 MSH2 PMS2
4
Show member pathways
12.65 BRCA1 BRCA2 MLH1 MSH2 MSH6
5 12.42 BRCA2 MLH1 MSH2 MSH6
6
Show member pathways
12.42 BRCA1 BRCA2 MSH2 MSH6
7
Show member pathways
12.26 BRCA1 BRCA2 MLH1 MLH3
8 12.18 BRCA1 BRCA2 MLH1 MSH2 MSH6
9
Show member pathways
12.1 MLH1 MSH2 MSH6
10 11.94 MLH1 MSH2 MSH6
11 11.89 BRCA1 BRCA2 MSH2 MSH6
12 11.83 MLH1 MSH2 PMS2
13 11.65 BRCA1 BRCA2 MLH1 PMS2
14
Show member pathways
11.48 BRCA1 BRCA2 MSH2 MSH6
15 11.32 BRCA1 MLH1 MSH2 MSH6
16 11.3 BRCA1 MSH2 MSH6
17
Show member pathways
11.23 MLH1 MSH2
18
Show member pathways
11.18 MLH1 MSH2
19
Show member pathways
11.01 MLH1 MLH3 MSH2 MSH6 PMS2
20 10.72 MLH1 MSH2 MSH6 PMS2

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

Cellular components related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.95 BRCA1 BRCA2 MLH1 MSH2 MSH6 PMS2
2 condensed chromosome GO:0000793 9.46 BRCA1 MLH1
3 synaptonemal complex GO:0000795 9.43 MLH1 MLH3
4 condensed nuclear chromosome GO:0000794 9.43 BRCA1 MLH1 MLH3
5 male germ cell nucleus GO:0001673 9.4 MLH1 MLH3
6 lateral element GO:0000800 9.37 BRCA1 BRCA2
7 MutLalpha complex GO:0032389 9.32 MLH1 PMS2
8 MutSalpha complex GO:0032301 9.16 MSH2 MSH6
9 chiasma GO:0005712 8.96 MLH1 MLH3
10 mismatch repair complex GO:0032300 8.8 MLH3 MSH2 PMS2

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

(show all 24)
id Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 BRCA1 BRCA2 MLH1 MLH3 MSH2 MSH6
2 DNA repair GO:0006281 9.7 BRCA1 BRCA2 MLH1 MLH3 MSH2 MSH6
3 double-strand break repair GO:0006302 9.69 BRCA1 BRCA2 MSH2
4 DNA synthesis involved in DNA repair GO:0000731 9.62 BRCA1 BRCA2
5 somatic hypermutation of immunoglobulin genes GO:0016446 9.62 MLH1 MSH2 MSH6 PMS2
6 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.61 BRCA2 MSH2
7 reciprocal meiotic recombination GO:0007131 9.61 MLH1 MLH3
8 strand displacement GO:0000732 9.6 BRCA1 BRCA2
9 male meiosis GO:0007140 9.59 MLH1 MLH3
10 response to X-ray GO:0010165 9.58 BRCA2 MSH2
11 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.58 BRCA1 BRCA2
12 isotype switching GO:0045190 9.58 MLH1 MSH2 MSH6
13 postreplication repair GO:0006301 9.57 BRCA1 MSH2
14 determination of adult lifespan GO:0008340 9.56 MSH2 MSH6
15 positive regulation of isotype switching to IgG isotypes GO:0048304 9.55 MLH1 MSH2
16 negative regulation of DNA recombination GO:0045910 9.54 MSH2 MSH6
17 somatic recombination of immunoglobulin gene segments GO:0016447 9.54 MLH1 MSH2 MSH6
18 positive regulation of helicase activity GO:0051096 9.52 MSH2 MSH6
19 maintenance of DNA repeat elements GO:0043570 9.49 MSH2 MSH6
20 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MLH1 MSH2
21 chordate embryonic development GO:0043009 9.46 BRCA1 BRCA2
22 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.43 MLH1 MSH2
23 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.35 BRCA1 BRCA2 MLH1 MSH2 MSH6
24 mismatch repair GO:0006298 9.02 MLH1 MLH3 MSH2 MSH6 PMS2

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 1 according to GeneCards Suite gene sharing:

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.92 MLH1 MLH3 MSH2 MSH6 PMS2
2 ATPase activity GO:0016887 9.65 MLH1 MLH3 MSH2 MSH6 PMS2
3 damaged DNA binding GO:0003684 9.58 BRCA1 MSH2 MSH6
4 ADP binding GO:0043531 9.54 MSH2 MSH6
5 four-way junction DNA binding GO:0000400 9.51 MSH2 MSH6
6 oxidized purine DNA binding GO:0032357 9.49 MSH2 MSH6
7 MutLalpha complex binding GO:0032405 9.48 MSH2 MSH6
8 centromeric DNA binding GO:0019237 9.46 MLH3 MSH2
9 MutSalpha complex binding GO:0032407 9.43 MLH1 PMS2
10 single guanine insertion binding GO:0032142 9.37 MSH2 MSH6
11 single-stranded DNA binding GO:0003697 9.35 BRCA2 MLH1 MLH3 MSH2 PMS2
12 guanine/thymine mispair binding GO:0032137 9.33 MLH1 MSH2 MSH6
13 single thymine insertion binding GO:0032143 9.32 MSH2 MSH6
14 mismatched DNA binding GO:0030983 9.02 MLH1 MLH3 MSH2 MSH6 PMS2

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....