Functional consequences of ATM sequence variants for chromosomal radiosensitivity (Q40564238)

21 September 2017

title

Functional consequences of ATM sequence variants for chromosomal radiosensitivity (English)

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21 September 2017

author

Dominique Stoppa-Lyonnet

6

Dominique Stoppa-Lyonnet

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Sara Gutiérrez-Enríquez

Sara Gutiérrez-Enríquez

1

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Thilo Dörk

Thilo Dörk

3

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Michael Bremer

4

Michael Bremer

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21 September 2017

8

Sandra Angèle

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21 September 2017

2

Marie Fernet

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21 September 2017

Anthony Lauge

5

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21 September 2017

Norman Moullan

7

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21 September 2017

Janet Hall

9

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21 September 2017

publication date

1 June 2004

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Genes, Chromosomes and Cancer

21 September 2017

published in

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21 September 2017

volume

40

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21 September 2017

issue

2

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21 September 2017

page(s)

109-119

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Does variability in normal tissue reactions after radiotherapy have a genetic basis--where and how to look for it?

21 September 2017

cites work

1 reference

Phenotypic cellular characterization of an ataxia telangiectasia patient carrying a causal homozygous missense mutation

21 January 2018

1 reference

Chromosomal radiosensitivity in breast cancer patients with a known or putative genetic predisposition

21 January 2018

1 reference

DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation

21 January 2018

1 reference

Chromosomal radiosensitivity as a marker of predisposition to common cancers?

21 January 2018

1 reference

Absence of mutations in the ATM gene in forty-seven cases of sporadic breast cancer

21 January 2018

1 reference

Evidence of haplotype insufficiency in human cells containing a germline mutation in BRCA1 or BRCA2.

21 January 2018

1 reference

Listening to silence and understanding nonsense: exonic mutations that affect splicing

21 January 2018

1 reference

Variation in radiation-induced apoptosis in ataxia telangiectasia lymphoblastoid cell lines.

21 January 2018

1 reference

Cellular responses to ionising radiation of AT heterozygotes: differences between missense and truncating mutation carriers

21 January 2018

1 reference

Heterozygous ATM mutations do not contribute to early onset of breast cancer

21 January 2018

1 reference

Cancer risk in ATM heterozygotes: a model of phenotypic and mechanistic differences between missense and truncating mutations

21 January 2018

1 reference

Predominance of null mutations in ataxia-telangiectasia

21 January 2018

1 reference

Symposium overview: genetic polymorphisms in DNA repair and cancer risk

21 January 2018

1 reference

Genetic regulation of ionizing radiation sensitivity and breast cancer risk.

21 January 2018

1 reference

ATM mutations in female breast cancer patients predict for an increase in radiation-induced late effects

21 January 2018

1 reference

Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia

21 January 2018

1 reference

Breast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families

21 January 2018

1 reference

The many substrates and functions of ATM

21 January 2018

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ATM binds to beta-adaptin in cytoplasmic vesicles

21 January 2018

1 reference

Constitutional alterations of the ATM gene in early onset sporadic breast cancer

21 January 2018

1 reference

Idiopathic and radiation-induced ocular telangiectasia: the involvement of the ATM gene

21 January 2018

1 reference

Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries

21 January 2018

1 reference

Testing for mutations of the ataxia telangiectasia gene in radiosensitive breast cancer patients

21 January 2018

1 reference

Involvement ofATMmissense variants and mutations in a series of unselected breast cancer cases

21 January 2018

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Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer

21 January 2018

1 reference

21 January 2018

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Elevated frequency of ATM gene missense mutations in breast cancer relative to ethnically matched controls

21 January 2018

1 reference

No evidence for association of ataxia-telangiectasia mutated gene T2119C and C3161G amino acid substitution variants with risk of breast cancer

21 January 2018

1 reference

ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer

21 January 2018

1 reference

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

21 January 2018

1 reference

Genetic polymorphisms of DNA repair and xenobiotic-metabolizing enzymes: role in mutagen sensitivity

21 January 2018

1 reference

21 January 2018

Human DNA repair genes

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Heritability of chromosomal radiosensitivity in breast cancer patients: a pilot study with the lymphocyte micronucleus assay

21 January 2018

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7 January 2021

Dominant Negative ATM Mutations in Breast Cancer Families

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7 January 2021

Polymorphisms in DNA repair and environmental interactions

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7 January 2021

The in vitro micronucleus technique

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7 January 2021

Gamma-rays-induced death of human cells carrying mutations of BRCA1 or BRCA2

1 reference

7 January 2021

Identification of germline missense mutations and rare allelic variants in theATM gene in early-onset breast cancer

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7 January 2021

Genetic variability in susceptibility and response to toxicants

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7 January 2021

Fragments of ATM which have dominant-negative or complementing activity

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7 January 2021

Radiosensitivity of ataxia telangiectasia and Nijmegen breakage syndrome homozygotes and heterozygotes as determined by three-color FISH chromosome painting

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7 January 2021

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

1 reference

7 January 2021

Human DNA repair genes

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7 January 2021

Coding variants in human double-strand break DNA repair genes

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7 January 2021

A single ataxia telangiectasia gene with a product similar to PI-3 kinase

1 reference

7 January 2021

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

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7 January 2021

Dose-rate sparing for micronucleus induction in lymphocytes of controls and ataxia-telangiectasia heterozygotes exposed to 60Co gamma-irradiation in vitro

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7 January 2021

Radiation-induced micronucleus induction in lymphocytes identifies a high frequency of radiosensitive cases among breast cancer patients: a test for predisposition?

1 reference

7 January 2021

Increased chromosomal radiosensitivity in breast cancer patients: a comparison of two assays

1 reference

7 January 2021

Mutagen sensitivity of human lymphoblastoid cells with a BRCA1 mutation in comparison to ataxia telangiectasia heterozygote cells

1 reference

7 January 2021

Induction of micronuclei by five pyrethroid insecticides in whole-blood and isolated human lymphocyte cultures.

1 reference

7 January 2021

Incidence of cancer in 161 families affected by ataxia-telangiectasia

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7 January 2021

Detection of heterozygous carriers of the ataxia-telangiectasia (ATM) gene by G2 phase chromosomal radiosensitivity of peripheral blood lymphocytes

1 reference

7 January 2021

A comparison of the radiosensitivity of lymphocytes from normal donors, cancer patients, individuals with ataxia-telangiectasia (A-T) and A-T heterozygotes.

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7 January 2021

Identifiers

DOI

10.1002/GCC.20025

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21 September 2017

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