HNPCC2
MCID: CLR041
MIFTS: 29

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 58 13
Hnpcc2 58 12 76
Hereditary Nonpolyposis Colorectal Cancer Type 2 12 15
Coca2 58 12
Fcc2 58 12
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 2 41
Colon Cancer, Familial Nonpolyposis, Type 2; Fcc2 58
Hereditary Non-Polyposis Colorectal Cancer 2 76
Colon Cancer, Familial Nonpolyposis, Type 2 58
Familial Nonpolyposis Colon Cancer Type 2 12

Characteristics:

HPO:

33
colorectal cancer, hereditary nonpolyposis, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070274
OMIM 58 609310
MeSH 45 D003123
MedGen 43 C1333991
SNOMED-CT via HPO 70 263681008 363406005

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

UniProtKB/Swiss-Prot : 76 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 familial adenomatous polyposis and lynch syndrome i. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 2 is MLH1 (MutL Homolog 1). The drugs Lidocaine and Central Nervous System Depressants 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 familial adenomatous polyposis 9.7 MCC MLH1
2 lynch syndrome i 9.5 MCC MLH1 USHBP1

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

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

33
# Description HPO Frequency HPO Source Accession
1 colon cancer 33 HP:0003003

Clinical features from OMIM:

609310

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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Central Nervous System Depressants Phase 4
3 Peripheral Nervous System Agents Phase 4
4 Anti-Arrhythmia Agents Phase 4
5 Sodium Channel Blockers Phase 4
6 Anesthetics Phase 4
7 Anesthetics, Local Phase 4
8 Diuretics, Potassium Sparing Phase 4
9
Talimogene laherparepvec Approved, Experimental, Investigational Phase 2 1187560-31-1
10
nivolumab Approved Phase 2 946414-94-4
11 Antineoplastic Agents, Immunological Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pain Outcomes Following Intralesional Corticosteroid Injections 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:

42
Colon, Skin, Breast, Ovary, Uterus, Small Intestine

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:

76 (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 429)
# Gene Variation Type Significance SNP ID Assembly Location
1 MLH1 NM_000249.3(MLH1): c.776T> C (p.Leu259Ser) single nucleotide variant Uncertain significance rs56250509 GRCh38 Chromosome 3, 37014530: 37014530
2 MLH1 NM_000249.3(MLH1): c.776T> C (p.Leu259Ser) single nucleotide variant Uncertain significance rs56250509 GRCh37 Chromosome 3, 37056021: 37056021
3 MLH1 NM_000249.3(MLH1): c.884+16A> G single nucleotide variant Conflicting interpretations of pathogenicity rs377598055 GRCh38 Chromosome 3, 37017615: 37017615
4 MLH1 NM_000249.3(MLH1): c.884+16A> G single nucleotide variant Conflicting interpretations of pathogenicity rs377598055 GRCh37 Chromosome 3, 37059106: 37059106
5 MLH1 NM_000249.3(MLH1): c.1243G> A (p.Asp415Asn) single nucleotide variant Uncertain significance rs373767220 GRCh38 Chromosome 3, 37025841: 37025841
6 MLH1 NM_000249.3(MLH1): c.1243G> A (p.Asp415Asn) single nucleotide variant Uncertain significance rs373767220 GRCh37 Chromosome 3, 37067332: 37067332
7 MLH1 NM_000249.3(MLH1): c.1269G> A (p.Arg423=) single nucleotide variant Conflicting interpretations of pathogenicity rs373076967 GRCh38 Chromosome 3, 37025867: 37025867
8 MLH1 NM_000249.3(MLH1): c.1269G> A (p.Arg423=) single nucleotide variant Conflicting interpretations of pathogenicity rs373076967 GRCh37 Chromosome 3, 37067358: 37067358
9 MLH1 NM_000249.3(MLH1): c.1559-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs730881750 GRCh38 Chromosome 3, 37040175: 37040175
10 MLH1 NM_000249.3(MLH1): c.1559-11T> C single nucleotide variant Conflicting interpretations of pathogenicity rs730881750 GRCh37 Chromosome 3, 37081666: 37081666
11 MLH1 NM_000249.3(MLH1): c.1628A> G (p.His543Arg) single nucleotide variant Uncertain significance rs730881742 GRCh38 Chromosome 3, 37040255: 37040255
12 MLH1 NM_000249.3(MLH1): c.1628A> G (p.His543Arg) single nucleotide variant Uncertain significance rs730881742 GRCh37 Chromosome 3, 37081746: 37081746
13 MLH1 NM_000249.3(MLH1): c.69A> G (p.Glu23=) single nucleotide variant Conflicting interpretations of pathogenicity rs63750555 GRCh37 Chromosome 3, 37035107: 37035107
14 MLH1 NM_000249.3(MLH1): c.69A> G (p.Glu23=) single nucleotide variant Conflicting interpretations of pathogenicity rs63750555 GRCh38 Chromosome 3, 36993616: 36993616
15 MLH1 NM_000249.3(MLH1): c.18G> A (p.Gly6=) single nucleotide variant Likely benign rs786202312 GRCh37 Chromosome 3, 37035056: 37035056
16 MLH1 NM_000249.3(MLH1): c.18G> A (p.Gly6=) single nucleotide variant Likely benign rs786202312 GRCh38 Chromosome 3, 36993565: 36993565
17 MLH1 NM_000249.3(MLH1): c.290A> G (p.Tyr97Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs773647920 GRCh38 Chromosome 3, 37001037: 37001037
18 MLH1 NM_000249.3(MLH1): c.290A> G (p.Tyr97Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs773647920 GRCh37 Chromosome 3, 37042528: 37042528
19 MLH1 NM_000249.3(MLH1): c.415C> G (p.Pro139Ala) single nucleotide variant Uncertain significance rs779562531 GRCh37 Chromosome 3, 37048516: 37048516
20 MLH1 NM_000249.3(MLH1): c.415C> G (p.Pro139Ala) single nucleotide variant Uncertain significance rs779562531 GRCh38 Chromosome 3, 37007025: 37007025
21 MLH1 NM_000249.3(MLH1): c.601G> C (p.Val201Leu) single nucleotide variant Uncertain significance rs534184145 GRCh37 Chromosome 3, 37053514: 37053514
22 MLH1 NM_000249.3(MLH1): c.601G> C (p.Val201Leu) single nucleotide variant Uncertain significance rs534184145 GRCh38 Chromosome 3, 37012023: 37012023
23 MLH1 NM_000249.3(MLH1): c.636C> T (p.Thr212=) single nucleotide variant Likely benign rs138735345 GRCh38 Chromosome 3, 37012058: 37012058
24 MLH1 NM_000249.3(MLH1): c.636C> T (p.Thr212=) single nucleotide variant Likely benign rs138735345 GRCh37 Chromosome 3, 37053549: 37053549
25 MLH1 NM_000249.3(MLH1): c.682C> A (p.Leu228Met) single nucleotide variant Uncertain significance rs751628735 GRCh38 Chromosome 3, 37014436: 37014436
26 MLH1 NM_000249.3(MLH1): c.682C> A (p.Leu228Met) single nucleotide variant Uncertain significance rs751628735 GRCh37 Chromosome 3, 37055927: 37055927
27 MLH1 NM_000249.3(MLH1): c.954C> T (p.His318=) single nucleotide variant Benign/Likely benign rs146777069 GRCh38 Chromosome 3, 37020379: 37020379
28 MLH1 NM_000249.3(MLH1): c.954C> T (p.His318=) single nucleotide variant Benign/Likely benign rs146777069 GRCh37 Chromosome 3, 37061870: 37061870
29 MLH1 NM_000249.3(MLH1): c.1010C> G (p.Ser337Cys) single nucleotide variant Uncertain significance rs763847201 GRCh37 Chromosome 3, 37061926: 37061926
30 MLH1 NM_000249.3(MLH1): c.1010C> G (p.Ser337Cys) single nucleotide variant Uncertain significance rs763847201 GRCh38 Chromosome 3, 37020435: 37020435
31 MLH1 NM_000249.3(MLH1): c.1104G> A (p.Ser368=) single nucleotide variant Conflicting interpretations of pathogenicity rs769364808 GRCh37 Chromosome 3, 37067193: 37067193
32 MLH1 NM_000249.3(MLH1): c.1104G> A (p.Ser368=) single nucleotide variant Conflicting interpretations of pathogenicity rs769364808 GRCh38 Chromosome 3, 37025702: 37025702
33 MLH1 NM_000249.3(MLH1): c.1117G> A (p.Gly373Arg) single nucleotide variant Uncertain significance rs766904735 GRCh37 Chromosome 3, 37067206: 37067206
34 MLH1 NM_000249.3(MLH1): c.1117G> A (p.Gly373Arg) single nucleotide variant Uncertain significance rs766904735 GRCh38 Chromosome 3, 37025715: 37025715
35 MLH1 NM_000249.3(MLH1): c.1284T> C (p.Asp428=) single nucleotide variant Likely benign rs772555970 GRCh38 Chromosome 3, 37025882: 37025882
36 MLH1 NM_000249.3(MLH1): c.1284T> C (p.Asp428=) single nucleotide variant Likely benign rs772555970 GRCh37 Chromosome 3, 37067373: 37067373
37 MLH1 NM_000249.3(MLH1): c.1487C> T (p.Pro496Leu) single nucleotide variant Uncertain significance rs63750226 GRCh37 Chromosome 3, 37070352: 37070352
38 MLH1 NM_000249.3(MLH1): c.1487C> T (p.Pro496Leu) single nucleotide variant Uncertain significance rs63750226 GRCh38 Chromosome 3, 37028861: 37028861
39 MLH1 NM_000249.3(MLH1): c.1514G> A (p.Ser505Asn) single nucleotide variant Uncertain significance rs771044689 GRCh37 Chromosome 3, 37070379: 37070379
40 MLH1 NM_000249.3(MLH1): c.1514G> A (p.Ser505Asn) single nucleotide variant Uncertain significance rs771044689 GRCh38 Chromosome 3, 37028888: 37028888
41 MLH1 NM_000249.3(MLH1): c.1572G> T (p.Met524Ile) single nucleotide variant Uncertain significance rs587779953 GRCh37 Chromosome 3, 37081690: 37081690
42 MLH1 NM_000249.3(MLH1): c.1572G> T (p.Met524Ile) single nucleotide variant Uncertain significance rs587779953 GRCh38 Chromosome 3, 37040199: 37040199
43 MLH1 NM_000249.3(MLH1): c.1690C> T (p.Leu564Phe) single nucleotide variant Uncertain significance rs786202693 GRCh37 Chromosome 3, 37083781: 37083781
44 MLH1 NM_000249.3(MLH1): c.1690C> T (p.Leu564Phe) single nucleotide variant Uncertain significance rs786202693 GRCh38 Chromosome 3, 37042290: 37042290
45 MLH1 NM_000249.3(MLH1): c.1743G> A (p.Pro581=) single nucleotide variant Likely benign rs567838745 GRCh37 Chromosome 3, 37089021: 37089021
46 MLH1 NM_000249.3(MLH1): c.1743G> A (p.Pro581=) single nucleotide variant Likely benign rs567838745 GRCh38 Chromosome 3, 37047530: 37047530
47 MLH1 NM_000249.3(MLH1): c.1591G> A (p.Val531Met) single nucleotide variant Uncertain significance rs764663152 GRCh38 Chromosome 3, 37040218: 37040218
48 MLH1 NM_000249.3(MLH1): c.1591G> A (p.Val531Met) single nucleotide variant Uncertain significance rs764663152 GRCh37 Chromosome 3, 37081709: 37081709
49 MLH1 NM_000249.3(MLH1): c.1853A> T (p.Lys618Met) single nucleotide variant Uncertain significance rs63750449 GRCh37 Chromosome 3, 37089131: 37089131
50 MLH1 NM_000249.3(MLH1): c.1853A> T (p.Lys618Met) single nucleotide variant Uncertain significance rs63750449 GRCh38 Chromosome 3, 37047640: 37047640

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

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 8.92 DECR1 FOXO4 MCC MLH1

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 2

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10 dbSNP
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17 EFO
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
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75 UMLS via Orphanet
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