(Q34356721)

English

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

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1 reference

based on heuristic

inferred from title

Stéphanie Baert-Desurmont

11

object named as

Stéphanie Baert-Desurmont

0 references

author name string

Laurent Castéra

1

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Sophie Krieger

2

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Antoine Rousselin

3

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Angélina Legros

4

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Jean-Jacques Baumann

5

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Olivia Bruet

6

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Baptiste Brault

7

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Robin Fouillet

8

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Nicolas Goardon

9

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Olivier Letac

10

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Stéphanie Baert-Desurmont

11

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Julie Tinat

12

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Odile Bera

13

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Catherine Dugast

14

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Pascaline Berthet

15

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Florence Polycarpe

16

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Valérie Layet

17

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Agnes Hardouin

18

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Thierry Frébourg

19

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

Dominique Vaur

20

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

publication date

19 February 2014

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

European Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

22

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

11

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

1305-1313

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

https://scigraph.springernature.com/pub.10.1038/ejhg.2014.16

0 references

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

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

ACMG clinical laboratory standards for next-generation sequencing

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

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

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

CONTRA: copy number analysis for targeted resequencing

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

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

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

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

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

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

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

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.

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

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

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

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

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

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

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

Oral poly(ADP-ribose) polymerase inhibitor olaparib in patients with BRCA1 or BRCA2 mutations and recurrent ovarian 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

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

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

6 July 2018

The Sequence Alignment/Map format and SAMtools

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

High-resolution DNA melting analysis: advancements and limitations

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

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

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

Identification of genetic variants using bar-coded multiplexed sequencing

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

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

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

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

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

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

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

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

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

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

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

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

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

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=4200427

6 July 2018

Identification of the breast cancer susceptibility gene BRCA2

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

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

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

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

1 reference

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

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.

1 reference

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

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.

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

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

1 reference

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

21 January 2018

High-accuracy DNA sequence variation screening by DHPLC.

1 reference

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

27 October 2018

2009 Version of the Chompret Criteria for Li Fraumeni Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/24549055

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24549055

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/24549055

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/EJHG.2014.16

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q34356721&oldid=1630910849"