HNPCC2
MCID: CLR041
MIFTS: 41

Colorectal Cancer, Hereditary Nonpolyposis, Type 2 (HNPCC2)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 2 57 13
Hnpcc2 57 12 74
Hereditary Nonpolyposis Colorectal Cancer Type 2 12 15
Coca2 57 12
Fcc2 57 12
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 2 40
Colon Cancer, Familial Nonpolyposis, Type 2; Fcc2 57
Hereditary Non-Polyposis Colorectal Cancer 2 74
Colon Cancer, Familial Nonpolyposis, Type 2 57
Familial Nonpolyposis Colon Cancer Type 2 12

Characteristics:

HPO:

32
colorectal cancer, hereditary nonpolyposis, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070274
MeSH 44 D003123
MedGen 42 C1333991

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

UniProtKB/Swiss-Prot : 74 Hereditary non-polyposis colorectal cancer 2: 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.

MalaCards based summary : Colorectal Cancer, Hereditary Nonpolyposis, Type 2, also known as hnpcc2, is related to intestinal benign neoplasm and lower lip cancer. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 2 is MLH1 (MutL Homolog 1), and among its related pathways/superpathways are MicroRNAs in cancer and Platinum drug resistance. Affiliated tissues include colon, ovary and uterus, and related phenotype is colon cancer.

Disease Ontology : 12 A Lynch syndrome that has material basis in mutations in the MLH1 gene on chromosome 3p22.2.

More information from OMIM: 609310 PS120435

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 5 family:

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

Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 intestinal benign neoplasm 10.2 MLH1 CCND1
2 lower lip cancer 10.1 MLH1 CASP3
3 cell type benign neoplasm 10.1 MLH1 HMGA2
4 lynch syndrome i 10.1 USHBP1 MLH1 MCC
5 atypical teratoid rhabdoid tumor 10.0 HMGA2 CCND1
6 male reproductive system disease 10.0 CCND1 CASP3
7 nasopharyngeal disease 9.9 CCND1 CASP3
8 familial adenomatous polyposis 9.9 MLH1 MCC CCND1
9 pharynx cancer 9.9 CCND1 CASP3
10 cervix disease 9.8 CCND1 CASP3
11 leukocyte disease 9.8 CCND1 CASP3
12 tongue cancer 9.7 CCND1 CASP3
13 uterine anomalies 9.7 MLH1 CCND1 CASP3
14 colonic disease 9.7 MLH1 CCND1 CASP3
15 stomach disease 9.7 MLH1 CCND1 CASP3
16 female reproductive system disease 9.7 MLH1 CCND1 CASP3
17 reproductive system disease 9.7 MLH1 CCND1 CASP3
18 intestinal disease 9.7 MLH1 CCND1 CASP3
19 gastrointestinal system cancer 9.7 MLH1 CCND1 CASP3
20 endocrine gland cancer 9.7 MLH1 CCND1 CASP3
21 gastrointestinal system disease 9.7 MLH1 CCND1 CASP3
22 male reproductive organ cancer 9.7 CCND1 CASP3
23 bladder urothelial carcinoma 9.6 MLH1 CCND1 CASP3
24 adamantinoma of long bones 9.6 MLH1 CCND1 CASP3
25 large intestine cancer 9.6 MLH1 CCND1 CASP3
26 squamous cell carcinoma, head and neck 9.6 MIR204 CCND1 CASP3
27 oral cancer 9.6 CCND1 CASP3
28 gastric adenocarcinoma 9.5 MLH1 CCND1 CASP3
29 nervous system cancer 9.4 CCND1 CASP3

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2:



Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

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

Clinical features from OMIM:

609310

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

41
Colon, Ovary, Uterus, Skin, Small Intestine, Breast, Testes

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Articles related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

(show top 50) (show all 108)
# Title Authors PMID Year
1
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 8 71
19419416 2009
2
The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome. 8 71
19142183 2009
3
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 8 71
11524701 2001
4
Reduced frequency of extracolonic cancers in hereditary nonpolyposis colorectal cancer families with monoallelic hMLH1 expression. 8 71
9245993 1997
5
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. 8 71
8145827 1994
6
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). 8 71
2022152 1991
7
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 71
27854360 2017
8
Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 71
25711197 2015
9
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 71
25645574 2015
10
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 71
25452455 2015
11
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
12
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. 71
25003300 2014
13
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. 71
25070057 2014
14
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 71
24493721 2014
15
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 71
24310308 2014
16
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
17
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 71
23535968 2013
18
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 71
23408351 2013
19
Cancer risks for MLH1 and MSH2 mutation carriers. 8
23255516 2013
20
Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. 71
22167527 2012
21
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. 71
21953887 2012
22
A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families. 71
21785361 2011
23
MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. 71
20858721 2010
24
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 71
20533529 2010
25
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. 8
20591884 2010
26
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 71
20065170 2010
27
Risk of pancreatic cancer in families with Lynch syndrome. 8
19861671 2009
28
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 71
19120036 2009
29
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. 71
19101824 2009
30
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. 71
18759827 2008
31
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 71
18772310 2008
32
Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. 8
18554281 2008
33
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. 71
18301449 2008
34
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 71
18301448 2008
35
The three nucleotide deletion within the 3'untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome. 71
18496770 2008
36
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 71
17440981 2007
37
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 71
17312306 2007
38
Inheritance of a cancer-associated MLH1 germ-line epimutation. 71
17301300 2007
39
Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features. 71
16724012 2006
40
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 71
16341550 2006
41
Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family. 71
15923275 2006
42
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 71
16451135 2006
43
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. 71
16285940 2005
44
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 71
15849733 2005
45
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 71
16083711 2005
46
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 71
15713769 2005
47
hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. 71
15655560 2005
48
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. 71
15571801 2004
49
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. 71
15139004 2004
50
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. 71
15256438 2004

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

6 (show top 50) (show all 231)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MLH1 NM_000249.3(MLH1): c.589C> T (p.Gln197Ter) single nucleotide variant Pathogenic rs1553644123 3:37053502-37053502 3:37012011-37012011
2 MLH1 MLH1, HYPERMETHYLATION undetermined variant Pathogenic
3 MLH1 NM_000249.3(MLH1): c.755C> A (p.Ser252Ter) single nucleotide variant Pathogenic rs63750198 3:37056000-37056000 3:37014509-37014509
4 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 3:37038124-37038124 3:36996633-36996633
5 MLH1 NM_000249.3(MLH1): c.1846_1848AAG[2] (p.Lys618del) short repeat Pathogenic rs63751247 3:37089130-37089132 3:37047639-37047641
6 MLH1 MLH1, 3.5-KB DEL deletion Pathogenic
7 MLH1 NM_000249.3(MLH1): c.1667+1_1667+8delinsATTT indel Pathogenic rs863223312 3:37081786-37081793 3:37040295-37040302
8 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 3:37061902-37061902 3:37020411-37020411
9 MLH1 MLH1, 1-BP DEL, 1784T deletion Pathogenic
10 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 3:37053589-37053589 3:37012098-37012098
11 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 3:37038192-37038192 3:36996701-36996701
12 MLH1 MLH1, EX16DEL deletion Pathogenic
13 MLH1 NM_000249.3(MLH1): c.350C> T (p.Thr117Met) single nucleotide variant Pathogenic rs63750781 3:37045935-37045935 3:37004444-37004444
14 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 3:37090053-37090053 3:37048562-37048562
15 MLH1 NM_000249.3(MLH1): c.806C> G (p.Ser269Ter) single nucleotide variant Pathogenic rs63750691 3:37059012-37059012 3:37017521-37017521
16 MLH1 NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr) single nucleotide variant Pathogenic rs63750217 3:37090446-37090446 3:37048955-37048955
17 MLH1 MLH1, 3-BP DEL, 213AGA deletion Pathogenic
18 MLH1 MLH1, EX18DEL deletion Pathogenic
19 MLH1 MLH1, EPIGENETICALLY SILENCED undetermined variant Pathogenic
20 MLH1 MLH1, 2-BP DEL, 593AG deletion Pathogenic
21 MLH1 NM_000249.3(MLH1): c.104_105delinsAC (p.Met35Asn) indel Pathogenic rs121912965 3:37035142-37035143 3:36993651-36993652
22 MLH1 NM_000249.3(MLH1): c.200G> A (p.Gly67Glu) single nucleotide variant Pathogenic rs63749939 3:37038193-37038193 3:36996702-36996702
23 MLH1 NM_000249.3(MLH1): c.793C> T (p.Arg265Cys) single nucleotide variant Pathogenic rs63751194 3:37058999-37058999 3:37017508-37017508
24 MLH1 MLH1, 11.6-KB DEL deletion Pathogenic
25 MLH1 NM_000249.3(MLH1): c.1865T> A (p.Leu622His) single nucleotide variant Pathogenic rs63750693 3:37089143-37089143 3:37047652-37047652
26 MLH1 NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter) single nucleotide variant Pathogenic rs63750540 3:37067470-37067470 3:37025979-37025979
27 MLH1 NM_000249.3(MLH1): c.298C> T (p.Arg100Ter) single nucleotide variant Pathogenic rs63751221 3:37042536-37042536 3:37001045-37001045
28 MLH1 NM_000249.3(MLH1): c.454-1G> A single nucleotide variant Pathogenic rs193922370 3:37050304-37050304 3:37008813-37008813
29 MLH1 NM_000249.3(MLH1): c.1011dup (p.Asn338fs) duplication Pathogenic rs63750677 3:37061927-37061927 3:37020436-37020436
30 MLH1 NM_000249.3(MLH1): c.1459C> T (p.Arg487Ter) single nucleotide variant Pathogenic rs63749795 3:37070324-37070324 3:37028833-37028833
31 MLH1 NM_000249.3(MLH1): c.1489dup (p.Arg497fs) duplication Pathogenic rs63750855 3:37070354-37070354 3:37028863-37028863
32 MLH1 NM_000249.3(MLH1): c.1559-2A> G single nucleotide variant Pathogenic rs267607836 3:37081675-37081675 3:37040184-37040184
33 MLH1 NM_000249.3(MLH1): c.1731G> A (p.Ser577=) single nucleotide variant Pathogenic rs63751657 3:37083822-37083822 3:37042331-37042331
34 MLH1 NM_000249.3(MLH1): c.1896G> A (p.Glu632=) single nucleotide variant Pathogenic rs63751632 3:37089174-37089174 3:37047683-37047683
35 MLH1 NM_000249.3(MLH1): c.199G> A (p.Gly67Arg) single nucleotide variant Pathogenic rs63750206 3:37038192-37038192 3:36996701-36996701
36 MLH1 NM_000249.3(MLH1): c.2059C> T (p.Arg687Trp) single nucleotide variant Pathogenic rs63751275 3:37090464-37090464 3:37048973-37048973
37 MLH1 NM_000249.3(MLH1): c.2252_2253del (p.Lys751fs) deletion Pathogenic rs267607901 3:37092125-37092126 3:37050634-37050635
38 MLH1 NM_000249.3(MLH1): c.245C> T (p.Thr82Ile) single nucleotide variant Pathogenic rs63750005 3:37042483-37042483 3:37000992-37000992
39 MLH1 NM_000249.3(MLH1): c.306+5G> A single nucleotide variant Pathogenic rs267607735 3:37042549-37042549 3:37001058-37001058
40 MLH1 NM_000249.3(MLH1): c.545+3A> G single nucleotide variant Pathogenic rs267607760 3:37050399-37050399 3:37008908-37008908
41 MLH1 NM_000249.3(MLH1): c.588+5G> A single nucleotide variant Pathogenic rs267607768 3:37053358-37053358 3:37011867-37011867
42 MLH1 NM_000249.3(MLH1): c.589-2A> G single nucleotide variant Pathogenic rs267607767 3:37053500-37053500 3:37012009-37012009
43 MLH1 NM_000249.3(MLH1): c.677G> A (p.Arg226Gln) single nucleotide variant Pathogenic rs63751711 3:37053590-37053590 3:37012099-37012099
44 MLH1 NM_000249.3(MLH1): c.84del (p.Ala29fs) deletion Pathogenic rs587779045 3:37035122-37035122 3:36993631-36993631
45 MLH1 NM_000249.3(MLH1): c.955G> T (p.Glu319Ter) single nucleotide variant Pathogenic rs63750796 3:37061871-37061871 3:37020380-37020380
46 MLH1 NM_000249.3(MLH1): c.1246A> T (p.Lys416Ter) single nucleotide variant Pathogenic rs267607823 3:37067335-37067335 3:37025844-37025844
47 MLH1 NM_000249.3(MLH1): c.2070_2071insTT (p.Ile691fs) insertion Pathogenic/Likely pathogenic rs876659681 3:37090475-37090476 3:37048984-37048985
48 MLH1 NM_000249.3(MLH1): c.885-1G> A single nucleotide variant Pathogenic/Likely pathogenic 3:37061800-37061800 3:37020309-37020309
49 MLH1 NM_000249.3(MLH1): c.1410-2_1410-1delinsCC indel Pathogenic/Likely pathogenic 3:37070273-37070274 3:37028782-37028783
50 MLH1 NM_000249.3(MLH1): c.-27C> A single nucleotide variant Pathogenic/Likely pathogenic rs587779001 3:37035012-37035012 3:36993521-36993521

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 2:

74 (show top 50) (show all 76)
# Symbol AA change Variation ID SNP ID
1 MLH1 p.Pro28Leu VAR_004433 rs63750792
2 MLH1 p.Met35Arg VAR_004434 rs63749906
3 MLH1 p.Ser44Phe VAR_004436 rs63751109
4 MLH1 p.Gln62Lys VAR_004437 rs63751428
5 MLH1 p.Asn64Ser VAR_004438 rs63750952
6 MLH1 p.Gly67Arg VAR_004439 rs63750206
7 MLH1 p.Ile68Asn VAR_004440 rs63750281
8 MLH1 p.Arg69Lys VAR_004441 rs63751661
9 MLH1 p.Cys77Arg VAR_004442 rs63749859
10 MLH1 p.Ile107Arg VAR_004444 rs63750507
11 MLH1 p.Thr117Met VAR_004445 rs63750781
12 MLH1 p.Thr117Arg VAR_004446 rs63750781
13 MLH1 p.Val185Gly VAR_004447 rs63750515
14 MLH1 p.Ser193Pro VAR_004448 rs63751021
15 MLH1 p.Arg226Leu VAR_004451 rs63751711
16 MLH1 p.Val326Ala VAR_004453 rs63751049
17 MLH1 p.Ala492Thr VAR_004455 rs63751145
18 MLH1 p.Val506Ala VAR_004456 rs63749909
19 MLH1 p.Gln542Leu VAR_004457 rs63750511
20 MLH1 p.Leu574Pro VAR_004458 rs63751608
21 MLH1 p.Leu582Val VAR_004460 rs63751713
22 MLH1 p.Lys618Thr VAR_004463 rs63750449
23 MLH1 p.Arg659Pro VAR_004465 rs63749900
24 MLH1 p.Ala681Thr VAR_004466 rs63750217
25 MLH1 p.Gly67Trp VAR_012903 rs63750206
26 MLH1 p.Phe80Val VAR_012905 rs63749990
27 MLH1 p.Lys84Glu VAR_012906 rs63750641
28 MLH1 p.Ala128Pro VAR_012908 rs63750866
29 MLH1 p.Arg182Gly VAR_012909 rs63750211
30 MLH1 p.Gly244Asp VAR_012911 rs63750303
31 MLH1 p.Ser295Thr VAR_012916 rs63750144
32 MLH1 p.His329Pro VAR_012918 rs63750710
33 MLH1 p.Ala441Thr VAR_012920 rs63750365
34 MLH1 p.Leu549Pro VAR_012921 rs63750289
35 MLH1 p.Asn551Thr VAR_012922 rs63750271
36 MLH1 p.Ile565Phe VAR_012923 rs63750062
37 MLH1 p.Leu588Pro VAR_012924 rs63750575
38 MLH1 p.Leu622His VAR_012927 rs63750693
39 MLH1 p.Arg659Leu VAR_012929 rs63749900
40 MLH1 p.Ala586Pro VAR_015689 rs63751176
41 MLH1 p.Arg18Cys VAR_022663 rs367654552
42 MLH1 p.Gly101Asp VAR_022664 rs267607727
43 MLH1 p.Arg182Lys VAR_022666 rs587779021
44 MLH1 p.Tyr379Cys VAR_022667 rs143009528
45 MLH1 p.Leu559Arg VAR_022668 rs63750059
46 MLH1 p.Pro648Ser VAR_022669 rs63750899
47 MLH1 p.Ala21Val VAR_043384 rs63750706
48 MLH1 p.Ile25Phe VAR_043385 rs63749838
49 MLH1 p.Asn38His VAR_043389 rs63750580
50 MLH1 p.Asp41Gly VAR_043390 rs63751094

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 2.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Pathways related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.62 HMGA2 CCND1 CASP3
2 11.23 MLH1 CASP3
3 11.14 FOXO4 CASP3
4 11.02 MLH1 CCND1 CASP3
5 10.99 CCND1 CASP3
6 10.86 CCND1 CASP3

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Cellular components related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.1 MLH1 MCC HMGA2 FOXO4 CCND1 CASP3

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.56 MLH1 HMGA2 FOXO4 CCND1
2 fat cell differentiation GO:0045444 9.43 HMGA2 CCND1
3 response to glucocorticoid GO:0051384 9.4 CCND1 CASP3
4 cellular response to organic substance GO:0071310 9.37 CCND1 CASP3
5 stem cell differentiation GO:0048863 9.32 HMGA2 FOXO4
6 positive regulation of cell cycle arrest GO:0071158 9.16 HMGA2 FOXO4
7 response to X-ray GO:0010165 8.96 CCND1 CASP3
8 mitotic G2 DNA damage checkpoint GO:0007095 8.62 HMGA2 FOXO4

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.13 MLH1 FOXO4 CCND1
2 transcription factor binding GO:0008134 8.8 HMGA2 FOXO4 CCND1

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

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