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Loss of Chromosome 11q ATM Gene Locus

MedGen UID:
309319
•Concept ID:
C1517953
•
Cell or Molecular Dysfunction

Definition

A cytogenetic abnormality that refers to a deletion involving the long arm of chromosome 11 (11q) that also results in the deletion of the ATM gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Chromosome 11q ATM Gene Locus

Recent clinical studies

Etiology

Telomere shortening, TP53 mutations and deletions in chronic lymphocytic leukemia result in increased chromosomal instability and breakpoint clustering in heterochromatic regions.
Thomay K, Fedder C, Hofmann W, Kreipe H, Stadler M, Titgemeyer J, Zander I, Schlegelberger B, Göhring G
Ann Hematol 2017 Sep;96(9):1493-1500. Epub 2017 Jul 9 doi: 10.1007/s00277-017-3055-1. PMID: 28691153
Involvement of ATM missense variants and mutations in a series of unselected breast cancer cases.
Rodriguez C, Vallès H, Causse A, Johannsdottir V, Eliaou JF, Theillet C
Genes Chromosomes Cancer 2002 Feb;33(2):141-9. doi: 10.1002/gcc.1222. PMID: 11793440

Diagnosis

Identification of three distinct regions of deletion on the long arm of chromosome 11 in childhood acute lymphoblastic leukemia.
Takeuchi S, Cho SK, Seriu T, Koike M, Bartram CR, Reiter A, Schrappe M, Takeuchi C, Taguchi H, Koeffler HP
Oncogene 1999 Dec 2;18(51):7387-8. doi: 10.1038/sj.onc.1203145. PMID: 10602495

Prognosis

Telomere shortening, TP53 mutations and deletions in chronic lymphocytic leukemia result in increased chromosomal instability and breakpoint clustering in heterochromatic regions.
Thomay K, Fedder C, Hofmann W, Kreipe H, Stadler M, Titgemeyer J, Zander I, Schlegelberger B, Göhring G
Ann Hematol 2017 Sep;96(9):1493-1500. Epub 2017 Jul 9 doi: 10.1007/s00277-017-3055-1. PMID: 28691153

Clinical prediction guides

Identification of three distinct regions of deletion on the long arm of chromosome 11 in childhood acute lymphoblastic leukemia.
Takeuchi S, Cho SK, Seriu T, Koike M, Bartram CR, Reiter A, Schrappe M, Takeuchi C, Taguchi H, Koeffler HP
Oncogene 1999 Dec 2;18(51):7387-8. doi: 10.1038/sj.onc.1203145. PMID: 10602495

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