Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases (Q35630889)

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scientific article published on 5 December 2011

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English	Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases	scientific article published on 5 December 2011

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

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based on heuristic

inferred from title

Rosette Lidereau

6

object named as

Rosette Lidereau

0 references

Sandrine Caputo

object named as

Sandrine Caputo

1

0 references

Christophe Beroud

object named as

Christophe Béroud

5

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author name string

Louisa Benboudjema

2

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Olga Sinilnikova

3

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

Etienne Rouleau

4

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Europe PubMed Central

PubMed publication ID

9 August 2017

French BRCA GGC Consortium

7

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Europe PubMed Central

PubMed publication ID

9 August 2017

language of work or name

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publication date

5 December 2011

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Europe PubMed Central

PubMed publication ID

9 August 2017

Nucleic Acids Research

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Europe PubMed Central

PubMed publication ID

9 August 2017

40

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Europe PubMed Central

PubMed publication ID

9 August 2017

Database issue

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Europe PubMed Central

PubMed publication ID

9 August 2017

D992-1002

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Europe PubMed Central

PubMed publication ID

9 August 2017

copyright license

Creative Commons Attribution-NonCommercial 3.0 Unported

12 May 2017

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April 2022 Public Data File from Crossref

copyright status

0 references

Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

1 reference

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Impact of BRCA1 and BRCA2 variants on splicing: clues from an allelic imbalance study

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BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer

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12 July 2018

Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.

1 reference

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12 July 2018

Assessment of functional effects of unclassified genetic variants

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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

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Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

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Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients

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Recommendations for locus-specific databases and their curation

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High-resolution oligonucleotide array-CGH applied to the detection and characterization of large rearrangements in the hereditary breast cancer gene BRCA1.

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Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

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Functional impact of missense variants in BRCA1 predicted by supervised learning

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Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects

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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

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12 July 2018

Clinical and molecular features associated with biallelic mutations in FANCD1/BRCA2.

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Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression

1 reference

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12 July 2018

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

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Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studies

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Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility

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Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

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12 July 2018

LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

1 reference

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12 July 2018

Genomic rearrangements in the BRCA1 and BRCA2 genes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3245050

12 July 2018

Phenotypic expression of double heterozygosity for BRCA1 and BRCA2 germline mutations.

1 reference

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12 July 2018

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3245050

12 July 2018

BRCA1 testing in breast and/or ovarian cancer families from northeastern France identifies two common mutations with a founder effect

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3245050

12 July 2018

Structure of the BRCT Repeats of BRCA1 Bound to a BACH1 Phosphopeptide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3245050

12 July 2018

Real-time PCR-based gene dosage assay for detecting BRCA1 rearrangements in breast-ovarian cancer families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3245050

12 July 2018

SIFT: Predicting amino acid changes that affect protein function

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12 July 2018

Understanding missense mutations in the BRCA1 gene: an evolutionary approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3245050

12 July 2018

BRCA2 function in DNA binding and recombination from a BRCA2-DSS1-ssDNA structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3245050

12 July 2018

Rapid detection of novel BRCA1 rearrangements in high-risk breast-ovarian cancer families using multiplex PCR of short fluorescent fragments

1 reference

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12 July 2018

Human non-synonymous SNPs: server and survey

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12 July 2018

Biallelic inactivation of BRCA2 in Fanconi anemia

1 reference

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12 July 2018

Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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12 July 2018

Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1

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12 July 2018

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

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12 July 2018

The breast cancer information core: database design, structure, and scope

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UMD (Universal mutation database): a generic software to build and analyze locus-specific databases

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BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients

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12 July 2018

Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos

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BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group

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12 July 2018

Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities

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12 July 2018

UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

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25 September 2018

Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome.

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25 September 2018

Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes.

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25 September 2018

Does nonsense-mediated mRNA decay explain the ovarian cancer cluster region of the BRCA2 gene?

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25 September 2018

Structure of the BRCT repeats of BRCA1 bound to a BACH1 phosphopeptide: implications for signaling

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Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations

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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects

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25 September 2018

Spectrum and prevalence ofBRCA1 andBRCA2 germline mutations in Sardinian patients with breast carcinoma through hospital-based screening

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Color bar coding the BRCA1 gene on combed DNA: a useful strategy for detecting large gene rearrangements

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12 December 2020

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The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms

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High-throughput simultaneous detection of point mutations and large-scale rearrangements by CE

1 reference

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12 December 2020

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Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations

1 reference

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12 December 2020

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A de novo recombination in the ABO blood group gene and evidence for the occurence of recombination products

1 reference

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12 December 2020

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[Inserm ad hoc committee: Recommendations for the management of women with a genetic risk for developing cancer of the breast and/or the ovary]

1 reference

https://pubmed.ncbi.nlm.nih.gov/22144684

12 December 2020

based on heuristic

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Thermal unfolding of human BRCA1 BRCT-domain variants

1 reference

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Identifiers

10.1093/NAR/GKR1160

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

DBLP publication ID

journals/nar/CaputoBSRBL12

1 reference

DBLP Dataset 2021-01-02

28 January 2021

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 August 2017

ResearchGate publication ID

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