Deleterious RECQL Gene Mutation

MedGen UID:: 1793203
•Concept ID:: C5556762
•: Cell or Molecular Dysfunction

Synonyms:

Deleterious RecQ Like Helicase Gene Mutation; Deleterious RecQ1 Gene Mutation; Deleterious RECQL Mutation; Deleterious RECQL1 Gene Mutation; RECQL Driver Mutation

Definition

A change in the nucleotide sequence of the RECQL gene that is associated with increased risk of disease. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDeleterious RECQL Gene Mutation

Molecular Abnormality
- Molecular Sequence Variation
  - Molecular Genetic Variation
    - Mutation Abnormality
      - Deleterious Mutation
        Deleterious RECQL Gene Mutation

Recent clinical studies

Etiology

Rare missense mutations in RECQL and POLG associate with inherited predisposition to breast cancer.

Tervasmäki A, Mantere T, Hartikainen JM, Kauppila S, Lee HM, Koivuluoma S, Grip M, Karihtala P, Jukkola-Vuorinen A, Mannermaa A, Winqvist R, Pylkäs K
Int J Cancer 2018 Jun 1;142(11):2286-2292. Epub 2018 Jan 31 doi: 10.1002/ijc.31259. PMID: 29341116

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

Rump A, Benet-Pages A, Schubert S, Kuhlmann JD, Janavičius R, Macháčková E, Foretová L, Kleibl Z, Lhota F, Zemankova P, Betcheva-Krajcir E, Mackenroth L, Hackmann K, Lehmann J, Nissen A, DiDonato N, Opitz R, Thiele H, Kast K, Wimberger P, Holinski-Feder E, Emmert S, Schröck E, Klink B
PLoS Genet 2016 Aug;12(8):e1006248. Epub 2016 Aug 9 doi: 10.1371/journal.pgen.1006248. PMID: 27504877 Free PMC Article

Deleterious Germline BLM Mutations and the Risk for Early-onset Colorectal Cancer.

de Voer RM, Hahn MM, Mensenkamp AR, Hoischen A, Gilissen C, Henkes A, Spruijt L, van Zelst-Stams WA, Kets CM, Verwiel ET, Nagtegaal ID, Schackert HK, van Kessel AG, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP
Sci Rep 2015 Sep 11;5:14060. doi: 10.1038/srep14060. PMID: 26358404 Free PMC Article

See all (3)

Diagnosis

Mutations in RECQL Gene Are Associated with Predisposition to Breast Cancer.

Sun J, Wang Y, Xia Y, Xu Y, Ouyang T, Li J, Wang T, Fan Z, Fan T, Lin B, Lou H, Xie Y
PLoS Genet 2015 May;11(5):e1005228. Epub 2015 May 6 doi: 10.1371/journal.pgen.1005228. PMID: 25945795 Free PMC Article

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