CHEK2 R180C - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

CHEK2 R180C

(CHEK2 Arg180Cys)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    Web search results (9 hits -- see all)
  • Germline CHEK2 Mutations in Jewish Ashkenazi Women at High ...
    CHEK2 Mutations in Ashkenazi Jewish Women. Familial clustering of breast cancer is noted ... CHEK2 gene as a candidate breast cancer gene stems from several ...
    www.ima.org.il/imaj/ar07nov-5.pdf
  • Germline CHEK2 mutations in Jewish Ashkenazi women at high ...
    Germline CHEK2 mutations in Jewish Ashkenazi women at high risk for breast cancer. ... were detected (R3W 1.2%, 1157T 1.2%, R180C 0.6% and S428F 5%), one silent polymorphism ...
    www.ncbi.nlm.nih.gov/pubmed/18085035
  • Poster Session A
    experiments revealed two novel mutations: R180C and 1135delTC. Mutation R180C is not located in a functional ... CHEK2 gene into the Rad53 deleted yeast resulted in growth in ...
    preventionportal.aacrjournals.org/misc/...
  • SULT1E1 and ID2 genes as candidates for inherited ...
    Overall, 101 individuals (83 I157T*CHEK2 mutation carriers) were genotyped: 16 ... In conclusion, CHEK2*I157T missense mutation is a founder mutation in ethnically ...
    lib.bioinfo.pl/pmid:18821033
  • Search Medical and Societal References - esrnexus
    ESRNexus is a publicly searchable online medical and societal reference library that is ... in the CHEK2 gene by exon-specific polymerase chain reaction followed by denaturing ...
    www.esrnexus.com/advsearch.aspx?txtAuthor=Laitman
  • Breast Cancer Risk Factors - Investigators at Sheba Medical ...
    NewsRx is the leading source of news and information on Breast Cancer Risk Factors ... The CHEK2 gene encodes a checkpoint kinase, involved in response to DNA damage, and hence ...
    newsrx.com/newsletters/.../2008-01-03/4401032008116WW.html
  • The P1812A and P25T BRCA1 and the 5164del4 BRCA2 Mutations ...
    BioInfoBank Library :: The P1812A and P25T BRCA1 and the 5164del4 BRCA2 Mutations: Occurrence in High-Risk Non-Ashkenazi Jews. Characterization of cancer-linked ...
    lib.bioinfo.pl/pmid:17020472
  • OHD - Olomoucké Hematologické dny
    Produktem CHEK2 genu je proteinkináza podílející se na přenosu a amplifikaci ... alterací v genu CHEK2 [c.470T>C (p.I157T), c.538C>T (p.R180C), c.542G> ...
    olhemdny.cz/abstrakta/bysection.php?year[rocnik]=2009&...

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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