Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes (Q34356721)

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English	Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes	scientific article

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scholarly article

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Europe PubMed Central

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1 August 2017

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes (English)

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1 August 2017

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Stéphanie Baert-Desurmont

11

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Stéphanie Baert-Desurmont

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Laurent Castéra

1

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1 August 2017

Sophie Krieger

2

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Antoine Rousselin

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Angélina Legros

4

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Jean-Jacques Baumann

5

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Olivia Bruet

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Baptiste Brault

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Robin Fouillet

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Nicolas Goardon

9

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Olivier Letac

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Stéphanie Baert-Desurmont

11

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1 August 2017

Julie Tinat

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Odile Bera

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Catherine Dugast

14

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Pascaline Berthet

15

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Florence Polycarpe

16

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Valérie Layet

17

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Agnes Hardouin

18

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Thierry Frébourg

19

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Dominique Vaur

20

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publication date

19 February 2014

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European Journal of Human Genetics

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1 August 2017

22

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11

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1 August 2017

1305-1313

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1 August 2017

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

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6 July 2018

ACMG clinical laboratory standards for next-generation sequencing

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6 July 2018

Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants

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6 July 2018

CONTRA: copy number analysis for targeted resequencing

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6 July 2018

Breast cancer phenotype in women with TP53 germline mutations: a Li-Fraumeni syndrome consortium effort

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6 July 2018

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

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6 July 2018

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

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6 July 2018

Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53.

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6 July 2018

Multiplex target enrichment using DNA indexing for ultra-high throughput SNP detection

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6 July 2018

Radio-induced malignancies after breast cancer postoperative radiotherapy in patients with Li-Fraumeni syndrome

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6 July 2018

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

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6 July 2018

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian cancer: a proof-of-concept trial

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6 July 2018

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and advanced breast cancer: a proof-of-concept trial

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200427

6 July 2018

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200427

6 July 2018

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

1 reference

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6 July 2018

The Sequence Alignment/Map format and SAMtools

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6 July 2018

High-resolution DNA melting analysis: advancements and limitations

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6 July 2018

CNV-seq, a new method to detect copy number variation using high-throughput sequencing

1 reference

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6 July 2018

Identification of genetic variants using bar-coded multiplexed sequencing

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6 July 2018

Are the so-called low penetrance breast cancer genes, ATM, BRIP1, PALB2 and CHEK2, high risk for women with strong family histories?

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200427

6 July 2018

Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4200427

6 July 2018

Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review

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6 July 2018

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

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6 July 2018

Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case Series unselected for family history: a combined analysis of 22 studies

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6 July 2018

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

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6 July 2018

Very high risk of cancer in familial Peutz-Jeghers syndrome

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6 July 2018

Identification of the breast cancer susceptibility gene BRCA2

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6 July 2018

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

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6 July 2018

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

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21 January 2018

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.16

21 January 2018

Incidence of gastric cancer and breast cancer in CDH1 (E-cadherin) mutation carriers from hereditary diffuse gastric cancer families

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2014.16

21 January 2018

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

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21 January 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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21 January 2018

Beyond Li Fraumeni Syndrome: clinical characteristics of families with p53 germline mutations

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21 January 2018

Two metachronous tumors in the radiotherapy fields of a patient with Li-Fraumeni syndrome.

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21 January 2018

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

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21 January 2018

High-accuracy DNA sequence variation screening by DHPLC.

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27 October 2018

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

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12 December 2020

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EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients

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12 December 2020

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Rapid detection by fluorescent multiplex PCR of exon deletions and duplications in the C1 inhibitor gene of hereditary angioedema patients

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12 December 2020

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10.1038/EJHG.2014.16

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Europe PubMed Central

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1 August 2017

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Europe PubMed Central

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1 August 2017

PubMed publication ID

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Europe PubMed Central

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1 August 2017

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