ATM mutations in cancer families.

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Article

ATM mutations in cancer families.

Cancer research - 15 Sept 1996

Vorechovský I, Luo L, Lindblom A, Negrini M, Webster A D, Croce C M, Hammarström L

Abstract excerpt

Ataxia-telangiectasia (A-T) is a multisystem recessive disease characterized clinically by cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, sensitivity to radiomimetic agents, and cancer predisposition. This pleiotropic disorder is caused by mutations in the ATM (mutated in A-...

Topics

Adenine
Alleles
Ataxia Telangiectasia
Ataxia Telangiectasia Mutated Proteins
Breast Neoplasms
Cell Cycle Proteins
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 11
DNA-Binding Proteins
Female
Genetic Carrier Screening
Humans
Male
Neoplasms
Pedigree
Phosphotransferases (Alcohol Group Acceptor)
Point Mutation

Source

Open in PubMed

Identifiers

PMID: 8797579

Genes

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8797579-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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