MCID: PT1002
MIFTS: 8

Pot1 Tumor Predisposition

Aliases & Classifications for Pot1 Tumor Predisposition

MalaCards integrated aliases for Pot1 Tumor Predisposition:

Name: Pot1 Tumor Predisposition 25

Characteristics:

GeneReviews:

25
Penetrance The penetrance of pot1-tpd is currently unknown, fewer than 100 families have been described. initial studies suggest a very high penetrance but are subject to a selection bias for research cohorts/families. in more than half of reported families only the proband was tested. many individuals with germline pot1 variants were ascertained based on a strong family history of cancer from tumor-specific consortiums (e.g., the gliogene consortium, uk national study of colorectal cancer genetics, uk familial melanoma study).

Summaries for Pot1 Tumor Predisposition

MalaCards based summary : Pot1 Tumor Predisposition is related to leukemia, chronic lymphocytic and li-fraumeni syndrome. An important gene associated with Pot1 Tumor Predisposition is POT1 (Protection Of Telomeres 1). Affiliated tissues include endothelial.

GeneReviews: NBK563529

Related Diseases for Pot1 Tumor Predisposition

Diseases related to Pot1 Tumor Predisposition via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 leukemia, chronic lymphocytic 10.1
2 li-fraumeni syndrome 10.1
3 li-fraumeni syndrome 2 10.1
4 angiosarcoma 10.1
5 skin melanoma 10.1
6 thyroid carcinoma 10.1

Graphical network of the top 20 diseases related to Pot1 Tumor Predisposition:



Diseases related to Pot1 Tumor Predisposition

Symptoms & Phenotypes for Pot1 Tumor Predisposition

Drugs & Therapeutics for Pot1 Tumor Predisposition

Search Clinical Trials , NIH Clinical Center for Pot1 Tumor Predisposition

Genetic Tests for Pot1 Tumor Predisposition

Anatomical Context for Pot1 Tumor Predisposition

MalaCards organs/tissues related to Pot1 Tumor Predisposition:

40
Endothelial

Publications for Pot1 Tumor Predisposition

Articles related to Pot1 Tumor Predisposition:

(show all 18)
# Title Authors PMID Year
1
The enigma of excessively long telomeres in cancer: lessons learned from rare human POT1 variants. 25
32155570 2020
2
The wide spectrum of POT1 gene variants correlates with multiple cancer types. 25
28853721 2017
3
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 25
28349240 2017
4
Cancer Screening Recommendations for Individuals with Li-Fraumeni Syndrome. 25
28572266 2017
5
Structural insights into POT1-TPP1 interaction and POT1 C-terminal mutations in human cancer. 25
28393832 2017
6
Structural and functional analysis of the human POT1-TPP1 telomeric complex. 25
28393830 2017
7
Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia. 25
27528712 2016
8
Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. 25
27329137 2016
9
Timing, rates and spectra of human germline mutation. 25
26656846 2016
10
A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families. 25
26403419 2015
11
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
12
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma. 25
25505254 2015
13
Germline mutations in shelterin complex genes are associated with familial glioma. 25
25482530 2015
14
A recurrent activating PLCG1 mutation in cardiac angiosarcomas increases apoptosis resistance and invasiveness of endothelial cells. 25
25252913 2014
15
POT1 loss-of-function variants predispose to familial melanoma. 25
24686849 2014
16
Rare missense variants in POT1 predispose to familial cutaneous malignant melanoma. 25
24686846 2014
17
POT1 mutations cause telomere dysfunction in chronic lymphocytic leukemia. 25
23502782 2013
18
POT1 Tumor Predisposition 61
33119245 2020

Variations for Pot1 Tumor Predisposition

Expression for Pot1 Tumor Predisposition

Search GEO for disease gene expression data for Pot1 Tumor Predisposition.

Pathways for Pot1 Tumor Predisposition

GO Terms for Pot1 Tumor Predisposition

Sources for Pot1 Tumor Predisposition

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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