HNPCC2
MCID: CLR041
MIFTS: 26

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 75
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 75
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:

OMIM 57 609310
Disease Ontology 12 DOID:0070274
MedGen 42 C1333991
MeSH 44 D003123
SNOMED-CT via HPO 69 263681008 363406005

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

UniProtKB/Swiss-Prot : 75 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 colonic disease and autosomal genetic disease. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 2 is MLH1 (MutL Homolog 1). The drugs Lidocaine and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and breast, 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.

Description from OMIM: 609310

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 6 family:

Colorectal Cancer, Hereditary Nonpolyposis, Type 2 Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 Colorectal Cancer, Hereditary Nonpolyposis, Type 5
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:

# Related Disease Score Top Affiliating Genes
1 colonic disease 10.0 MLH1 RET
2 autosomal genetic disease 10.0 MLH1 RET
3 endocrine gland cancer 9.9 MLH1 RET
4 lynch syndrome i 9.9 MCC MLH1 USHBP1
5 familial adenomatous polyposis 9.9 MCC MLH1

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

Clinical features from OMIM:

609310

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

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

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

Drugs for Colorectal Cancer, Hereditary Nonpolyposis, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Anesthetics, Local Phase 4
3 Anesthetics Phase 4
4 Peripheral Nervous System Agents Phase 4
5 Diuretics, Potassium Sparing Phase 4
6 Central Nervous System Depressants Phase 4
7 Sodium Channel Blockers Phase 4
8 Anti-Arrhythmia Agents Phase 4
9
Nivolumab Approved Phase 2 946414-94-4
10 Antibodies, Monoclonal Phase 2
11 Antibodies Phase 2
12 Immunoglobulins Phase 2
13 Immunologic Factors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pain Outcomes Following Intralesional Corticosteroid Injections Not yet recruiting NCT03630198 Phase 4 Corticosteroid with lidocaine;Corticosteroid with normal saline
2 Study of TVEC in Patients With Cutaneous Squamous Cell Cancer Recruiting NCT03714828 Phase 2 Injection of TVEC into target lesions - week 1-2;Injection of TVEC into target lesions 3wks after 1st injection;Injection of TVEC into target lesions 2wks after 2nd injection;Injection of TVEC into target lesions 2wks after 3rd injection
3 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Recruiting NCT02978625 Phase 2

Search 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, Skin, Breast, Ovary, Small Intestine, Uterus

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

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

75 (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

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

6 (show top 50) (show all 431)
# Gene Variation Type Significance SNP ID Assembly Location
1 MLH1 NM_000249.3(MLH1): c.755C> A (p.Ser252Ter) single nucleotide variant Pathogenic rs63750198 GRCh37 Chromosome 3, 37056000: 37056000
2 MLH1 NM_000249.3(MLH1): c.755C> A (p.Ser252Ter) single nucleotide variant Pathogenic rs63750198 GRCh38 Chromosome 3, 37014509: 37014509
3 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 GRCh37 Chromosome 3, 37038124: 37038124
4 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 GRCh38 Chromosome 3, 36996633: 36996633
5 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh37 Chromosome 3, 37089130: 37089132
6 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh38 Chromosome 3, 37047639: 37047641
7 MLH1 MLH1, 3.5-KB DEL deletion Pathogenic
8 MLH1 NM_000249.3(MLH1): c.1667+1_1667+8delinsATTT indel Pathogenic rs863223312 GRCh38 Chromosome 3, 37040295: 37040302
9 MLH1 NM_000249.3(MLH1): c.1667+1_1667+8delinsATTT indel Pathogenic rs863223312 GRCh37 Chromosome 3, 37081786: 37081793
10 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 GRCh37 Chromosome 3, 37061902: 37061902
11 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 GRCh38 Chromosome 3, 37020411: 37020411
12 MLH1 MLH1, 1-BP DEL, 1784T deletion Pathogenic
13 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh37 Chromosome 3, 37053589: 37053589
14 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh38 Chromosome 3, 37012098: 37012098
15 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh37 Chromosome 3, 37038192: 37038192
16 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh38 Chromosome 3, 36996701: 36996701
17 MLH1 NM_000249.3(MLH1): c.1852_1853delAAinsGC (p.Lys618Ala) indel Benign rs35502531 GRCh37 Chromosome 3, 37089130: 37089131
18 MLH1 NM_000249.3(MLH1): c.1852_1853delAAinsGC (p.Lys618Ala) indel Benign rs35502531 GRCh38 Chromosome 3, 37047639: 37047640
19 MLH1 NM_000249.3(MLH1): c.1733A> G (p.Glu578Gly) single nucleotide variant Benign rs63751612 GRCh37 Chromosome 3, 37089011: 37089011
20 MLH1 NM_000249.3(MLH1): c.1733A> G (p.Glu578Gly) single nucleotide variant Benign rs63751612 GRCh38 Chromosome 3, 37047520: 37047520
21 MLH1 MLH1, EX16DEL deletion Pathogenic
22 MLH1 MLH1, HYPERMETHYLATION undetermined variant Pathogenic
23 MLH1 NM_000249.3(MLH1): c.350C> T (p.Thr117Met) single nucleotide variant Pathogenic rs63750781 GRCh37 Chromosome 3, 37045935: 37045935
24 MLH1 NM_000249.3(MLH1): c.350C> T (p.Thr117Met) single nucleotide variant Pathogenic rs63750781 GRCh38 Chromosome 3, 37004444: 37004444
25 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh37 Chromosome 3, 37090053: 37090053
26 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh38 Chromosome 3, 37048562: 37048562
27 MLH1 NM_000249.3(MLH1): c.806C> G (p.Ser269Ter) single nucleotide variant Pathogenic rs63750691 GRCh37 Chromosome 3, 37059012: 37059012
28 MLH1 NM_000249.3(MLH1): c.806C> G (p.Ser269Ter) single nucleotide variant Pathogenic rs63750691 GRCh38 Chromosome 3, 37017521: 37017521
29 MLH1 NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr) single nucleotide variant Pathogenic rs63750217 GRCh37 Chromosome 3, 37090446: 37090446
30 MLH1 NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr) single nucleotide variant Pathogenic rs63750217 GRCh38 Chromosome 3, 37048955: 37048955
31 MLH1 MLH1, 3-BP DEL, 213AGA deletion Pathogenic
32 MLH1 MLH1, EX18DEL deletion Pathogenic
33 MLH1 MLH1, EPIGENETICALLY SILENCED undetermined variant Pathogenic
34 MLH1 MLH1, 2-BP DEL, 593AG deletion Pathogenic
35 MLH1 NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn) indel Pathogenic rs121912965 GRCh37 Chromosome 3, 37035142: 37035143
36 MLH1 NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn) indel Pathogenic rs121912965 GRCh38 Chromosome 3, 36993651: 36993652
37 MLH1 NM_000249.3(MLH1): c.200G> A (p.Gly67Glu) single nucleotide variant Pathogenic rs63749939 GRCh37 Chromosome 3, 37038193: 37038193
38 MLH1 NM_000249.3(MLH1): c.200G> A (p.Gly67Glu) single nucleotide variant Pathogenic rs63749939 GRCh38 Chromosome 3, 36996702: 36996702
39 MLH1 NM_000249.3(MLH1): c.793C> T (p.Arg265Cys) single nucleotide variant Pathogenic rs63751194 GRCh37 Chromosome 3, 37058999: 37058999
40 MLH1 NM_000249.3(MLH1): c.793C> T (p.Arg265Cys) single nucleotide variant Pathogenic rs63751194 GRCh38 Chromosome 3, 37017508: 37017508
41 MLH1 MLH1, 11.6-KB DEL deletion Pathogenic
42 MLH1 NM_000249.3(MLH1): c.1865T> A (p.Leu622His) single nucleotide variant Pathogenic rs63750693 GRCh37 Chromosome 3, 37089143: 37089143
43 MLH1 NM_000249.3(MLH1): c.1865T> A (p.Leu622His) single nucleotide variant Pathogenic rs63750693 GRCh38 Chromosome 3, 37047652: 37047652
44 MLH1 NM_000249.3(MLH1): c.1039-8T> A single nucleotide variant Benign rs193922367 GRCh37 Chromosome 3, 37067120: 37067120
45 MLH1 NM_000249.3(MLH1): c.1039-8T> A single nucleotide variant Benign rs193922367 GRCh38 Chromosome 3, 37025629: 37025629
46 MLH1 NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter) single nucleotide variant Pathogenic rs63750540 GRCh37 Chromosome 3, 37067470: 37067470
47 MLH1 NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter) single nucleotide variant Pathogenic rs63750540 GRCh38 Chromosome 3, 37025979: 37025979
48 MLH1 NM_000249.3(MLH1): c.1558+14G> A single nucleotide variant Benign rs41562513 GRCh37 Chromosome 3, 37070437: 37070437
49 MLH1 NM_000249.3(MLH1): c.1558+14G> A single nucleotide variant Benign rs41562513 GRCh38 Chromosome 3, 37028946: 37028946
50 MLH1 NM_000249.3(MLH1): c.1668-19A> G single nucleotide variant Benign rs9876116 GRCh37 Chromosome 3, 37083740: 37083740

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

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

3 CDC
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17 ExPASy
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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