(Q33258847)

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Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families

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scholarly article

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Europe PubMed Central

PubMed publication ID

24 July 2017

Mutation analysis and characterization of ATR sequence variants in breast cancer cases from high-risk French Canadian breast/ovarian cancer families (English)

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Europe PubMed Central

PubMed publication ID

24 July 2017

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inferred from title

15

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Jacques Simard

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24 July 2017

author name string

Francine Durocher

1

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Europe PubMed Central

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24 July 2017

Yvan Labrie

2

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Europe PubMed Central

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24 July 2017

Penny Soucy

3

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Europe PubMed Central

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24 July 2017

Olga Sinilnikova

4

1 reference

Europe PubMed Central

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24 July 2017

Damian Labuda

5

1 reference

Europe PubMed Central

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24 July 2017

Paul Bessette

6

1 reference

Europe PubMed Central

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24 July 2017

Jocelyne Chiquette

7

1 reference

Europe PubMed Central

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24 July 2017

Rachel Laframboise

8

1 reference

Europe PubMed Central

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24 July 2017

Jean Lépine

9

1 reference

Europe PubMed Central

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24 July 2017

Bernard Lespérance

10

1 reference

Europe PubMed Central

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24 July 2017

Geneviève Ouellette

11

1 reference

Europe PubMed Central

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24 July 2017

Roxane Pichette

12

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Europe PubMed Central

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24 July 2017

Marie Plante

13

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Europe PubMed Central

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24 July 2017

Sean V Tavtigian

14

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24 July 2017

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publication date

29 September 2006

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Europe PubMed Central

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24 July 2017

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Europe PubMed Central

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24 July 2017

6

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Europe PubMed Central

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24 July 2017

230

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Europe PubMed Central

PubMed publication ID

24 July 2017

copyright license

Creative Commons Attribution 2.0 Generic

29 September 2006

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April 2022 Public Data File from Crossref

copyright status

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April 2022 Public Data File from Crossref

https://scigraph.springernature.com/pub.10.1186/1471-2407-6-230

0 references

Evaluation of BRCA1 and BRCA2 mutation prevalence, risk prediction models and a multistep testing approach in French-Canadian families with high risk of breast and ovarian cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

BRCA1 and BRCA2 mutations in breast and ovarian cancer syndrome: reflection on the Creighton University historical series of high risk families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Partnering in oncogenetic research--the INHERIT BRCAs experience: opportunities and challenges

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

BRCA1 and BRCA2 mutation predictions using the BOADICEA and BRCAPRO models and penetrance estimation in high-risk French-Canadian families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

No evidence of false reassurance among women with an inconclusive BRCA1/2 genetic test result

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

A new alternative splice variant of BRCA1 containing an additional in-frame exon

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Mutation analysis of the ATR gene in breast and ovarian cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Cancer risks and mortality in heterozygous ATM mutation carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Genome-wide association studies: theoretical and practical concerns

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Genome-wide association studies for common diseases and complex traits

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Alterations of DNA damage-response genes ATM and ATR in pyothorax-associated lymphoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

The genetic epidemiology of breast cancer genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Association studies for finding cancer-susceptibility genetic variants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Haploview: analysis and visualization of LD and haplotype maps

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Cancer genes and the pathways they control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Tracing the network connecting BRCA and Fanconi anaemia proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

The DNA crosslink-induced S-phase checkpoint depends on ATR-CHK1 and ATR-NBS1-FANCD2 pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

LDA—a java-based linkage disequilibrium analyzer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

The role of ATM and ATR in DNA damage-induced cell cycle control

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

THE INTERACTION OF SELECTION AND LINKAGE. II. OPTIMUM MODELS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

A subset of ATM- and ATR-dependent phosphorylation events requires the BRCA1 protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

TP53 mutations in familial breast cancer: functional aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

The allelic architecture of human disease genes: common disease-common variant... or not?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

The structure of haplotype blocks in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Variants in DNA double-strand break repair genes and breast cancer susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Cancer susceptibility and the functions of BRCA1 and BRCA2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Dominant Negative ATM Mutations in Breast Cancer Families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Regulation of ATR substrate selection by Rad17-dependent loading of Rad9 complexes onto chromatin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Histone H2AX is phosphorylated in an ATR-dependent manner in response to replicational stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

On the allelic spectrum of human disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Evidence for alternate splicing within the mRNA transcript encoding the DNA damage response kinase ATR.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Are rare variants responsible for susceptibility to complex diseases?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

ATR-mediated checkpoint pathways regulate phosphorylation and activation of human Chk1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Mining for SNPs: putting the common variants--common disease hypothesis to the test

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

A New Statistical Method for Haplotype Reconstruction from Population Data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

How many more breast cancer predisposition genes are there?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Functional interactions between BRCA1 and the checkpoint kinase ATR during genotoxic stress

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Very high risk of cancer in familial Peutz-Jeghers syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Environmental and heritable factors in the causation of cancer--analyses of cohorts of twins from Sweden, Denmark, and Finland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Low penetrance genes associated with increased risk for breast cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Chk1 is an essential kinase that is regulated by Atr and required for the G(2)/M DNA damage checkpoint

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Targeted disruption of the cell-cycle checkpoint gene ATR leads to early embryonic lethality in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

ATR disruption leads to chromosomal fragmentation and early embryonic lethality

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

ATM-heterozygous germline mutations contribute to breast cancer-susceptibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Molecular association between ATR and two components of the nucleosome remodeling and deacetylating complex, HDAC2 and CHD4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

A role for ATR in the DNA damage-induced phosphorylation of p53

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

A comparison of linkage disequilibrium measures for fine-scale mapping

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Normal keratinization in a spontaneously immortalized aneuploid human keratinocyte cell line

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

Malignant neoplasms in the families of patients with ataxia-telangiectasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

14 July 2018

High constant incidence in twins and other relatives of women with breast cancer.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-6-230

21 January 2018

Are ATM mutations 7271T-->G and IVS10-6T-->G really high-risk breast cancer-susceptibility alleles?

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-6-230

21 January 2018

Two ATM variants and breast cancer risk.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-6-230

21 January 2018

Infrequent mutations in the PTEN/MMAC1 gene among primary breast cancers.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-6-230

21 January 2018

Initial steps of ferulic acid polymerization by lignin peroxidase

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-6-230

21 January 2018

Essential role of BETA2/NeuroD1 in development of the vestibular and auditory systems

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-6-230

21 January 2018

Rad50 depletion impacts upon ATR-dependent DNA damage responses.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-6-230

21 January 2018

Improved real-time RT-PCR method for high-throughput measurements using second derivative calculation and double correction.

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-6-230

21 January 2018

Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-6-230

21 January 2018

Contributions of ATM mutations to familial breast and ovarian cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

31 October 2018

c-Ha-ras oncogene expression in immortalized human keratinocytes (HaCaT) alters growth potential in vivo but lacks correlation with malignancy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1599749

31 October 2018

Contribution of BRCA1 and BRCA2 germ-line mutations to the incidence of breast cancer in young women: results from a prospective population-based study in France

1 reference

https://pubmed.ncbi.nlm.nih.gov/17010193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A weighted cohort approach for analysing factors modifying disease risks in carriers of high-risk susceptibility genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17010193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

No Evidence of BRCA1/2 genomic rearrangements in high-risk French-Canadian breast/ovarian cancer families

1 reference

https://pubmed.ncbi.nlm.nih.gov/17010193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The usefulness of different density SNP maps for disease association studies of common variants

1 reference

https://pubmed.ncbi.nlm.nih.gov/17010193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence for further breast cancer susceptibility genes in addition to BRCA1 and BRCA2 in a population-based study

1 reference

https://pubmed.ncbi.nlm.nih.gov/17010193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haplotype tagging for the identification of common disease genes

1 reference

https://pubmed.ncbi.nlm.nih.gov/17010193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Polygenic susceptibility to breast cancer and implications for prevention

1 reference

https://pubmed.ncbi.nlm.nih.gov/17010193

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1471-2407-6-230

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

Dimensions Publication ID

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2407-6-230

9 September 2019

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

24 July 2017

ResearchGate publication ID

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