Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study (Q28652308)

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English	Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study	scientific article

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Rare key functional domain missense substitutions in MRE11A, RAD50, and NBN contribute to breast cancer susceptibility: results from a Breast Cancer Family Registry case-control mutation-screening study (English)

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1 reference

based on heuristic

inferred from title

Geoffroy Durand

9

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Florence Le Calvez-Kelm

4

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object named as

Erin L Young

6

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Maxime P Vallée

object named as

Maxime P Vallée

10

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object named as

Javier Oliver

3

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Fabienne Lesueur

object named as

Fabienne Lesueur

19

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Melissa C. Southey

object named as

Melissa C Southey

15

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14

object named as

John L Hopper

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Irene L Andrulis

16

object named as

Irene L Andrulis

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17

object named as

Esther M John

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18

object named as

David E Goldgar

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author name string

Francesca Damiola

1

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Maroulio Pertesi

2

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Catherine Voegele

5

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Nivonirina Robinot

7

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Nathalie Forey

8

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Kayoko Tao

11

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Terrell C Roane

12

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Gareth J Williams

13

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Sean V Tavtigian

20

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language of work or name

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publication date

3 June 2014

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Breast Cancer Research

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16

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3

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R58

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Structure of Mre11–Nbs1 complex yields insights into ataxia-telangiectasia–like disease mutations and DNA damage signaling

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17 March 2017

Rare mutations in XRCC2 increase the risk of breast cancer

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17 March 2017

The Mre11:Rad50 Structure Shows an ATP-Dependent Molecular Clamp in DNA Double-Strand Break Repair

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17 March 2017

ABC ATPase signature helices in Rad50 link nucleotide state to Mre11 interface for DNA repair.

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17 March 2017

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study

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CDD: a Conserved Domain Database for the functional annotation of proteins

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A method and server for predicting damaging missense mutations

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17 March 2017

A supramodular FHA/BRCT-repeat architecture mediates Nbs1 adaptor function in response to DNA damage

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17 March 2017

Nbs1 Flexibly Tethers Ctp1 and Mre11-Rad50 to Coordinate DNA Double-Strand Break Processing and Repair

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Aberrations of the MRE11-RAD50-NBS1 DNA damage sensor complex in human breast cancer: MRE11 as a candidate familial cancer-predisposing gene

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Mre11 Dimers Coordinate DNA End Bridging and Nuclease Processing in Double-Strand-Break Repair

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Mutational analysis of thirty-two double-strand DNA break repair genes in breast and pancreatic cancers

1 reference

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M-Coffee: combining multiple sequence alignment methods with T-Coffee

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The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer

1 reference

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17 March 2017

Structural biochemistry and interaction architecture of the DNA double-strand break repair Mre11 nuclease and Rad50-ATPase

1 reference

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Structural biology of Rad50 ATPase: ATP-driven conformational control in DNA double-strand break repair and the ABC-ATPase superfamily

1 reference

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17 March 2017

Complex formation and functional versatility of Mre11 of budding yeast in recombination

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17 March 2017

Conditional gene targeted deletion by Cre recombinase demonstrates the requirement for the double-strand break repair Mre11 protein in murine embryonic stem cells

1 reference

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17 March 2017

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

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7 April 2017

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

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7 April 2017

Conserved modes of recruitment of ATM, ATR and DNA-PKcs to sites of DNA damage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

7 April 2017

Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms

1 reference

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3 June 2018

CHEK2*1100delC homozygosity in the Netherlands--prevalence and risk of breast and lung cancer

1 reference

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3 June 2018

RAD51 and breast cancer susceptibility: no evidence for rare variant association in the Breast Cancer Family Registry study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

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Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

1 reference

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Crystal structure of the Mre11-Rad50-ATPγS complex: understanding the interplay between Mre11 and Rad50

1 reference

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Mre11-Rad50-Nbs1 conformations and the control of sensing, signaling, and effector responses at DNA double-strand breaks

1 reference

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Discovering moderate-risk breast cancer susceptibility genes

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3 June 2018

Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

3 June 2018

NBS1 Heterozygosity and Cancer Risk

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

3 June 2018

Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder

1 reference

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Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis

1 reference

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Determining the effectiveness of High Resolution Melting analysis for SNP genotyping and mutation scanning at the TP53 locus

1 reference

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Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

1 reference

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In silico analysis of missense substitutions using sequence-alignment based methods

1 reference

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A glycine-arginine domain in control of the human MRE11 DNA repair protein

1 reference

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1 reference

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3 June 2018

RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

3 June 2018

ATM activation and its recruitment to damaged DNA require binding to the C terminus of Nbs1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

3 June 2018

Arginine methylation of MRE11 by PRMT1 is required for DNA damage checkpoint control.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

3 June 2018

MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

3 June 2018

Cancer predisposition and hematopoietic failure in Rad50(S/S) mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

3 June 2018

Disruption of mRad50 causes embryonic stem cell lethality, abnormal embryonic development, and sensitivity to ionizing radiation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

3 June 2018

Nijmegen breakage syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

3 June 2018

Targeted disruption of the Nijmegen breakage syndrome gene NBS1 leads to early embryonic lethality in mice.

1 reference

https://api.crossref.org/works/10.1186%2FBCR3669

21 January 2018

Two brothers with ataxia-telangiectasia-like disorder with lung adenocarcinoma

1 reference

https://api.crossref.org/works/10.1186%2FBCR3669

21 January 2018

Mutation screening of Mre11 complex genes: indication of RAD50 involvement in breast and ovarian cancer susceptibility

1 reference

https://api.crossref.org/works/10.1186%2FBCR3669

21 January 2018

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

1 reference

https://api.crossref.org/works/10.1186%2FBCR3669

21 January 2018

CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.

1 reference

https://api.crossref.org/works/10.1186%2FBCR3669

21 January 2018

A high-throughput functional complementation assay for classification of BRCA1 missense variants

1 reference

https://api.crossref.org/works/10.1186%2FBCR3669

21 January 2018

The R215W mutation in NBS1 impairs gamma-H2AX binding and affects DNA repair: molecular bases for the severe phenotype of 657del5/R215W Nijmegen breakage syndrome patients

1 reference

https://api.crossref.org/works/10.1186%2FBCR3669

21 January 2018

Evaluation ofRAD50 in familial breast cancer predisposition

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https://api.crossref.org/works/10.1186%2FBCR3669

21 January 2018

Current evidence on the relationship between two polymorphisms in the NBS1 gene and breast cancer risk: a meta-analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4229874

27 November 2018

Homozygosity for aCHEK2*1100delC mutation identified in familial colorectal cancer does not lead to a severe clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/24894818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impact of heterozygous c.657-661del, p.I171V and p.R215W mutations in NBN on nibrin functions

1 reference

https://pubmed.ncbi.nlm.nih.gov/24894818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/BCR3669

1 reference

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Consolidated OpenCitations Corpus – April 2017

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Consolidated OpenCitations Corpus – April 2017

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