An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice. (Q47351280)

http://europepmc.org/abstract/PMC/5838520

14 June 2018

title

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice. (English)

1 reference

http://europepmc.org/abstract/PMC/5838520

14 June 2018

author

Arjen R Mensenkamp

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Miika Ahdesmaki

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Ana Vivancos

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Thomas Carr

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Marjolijn J L Ligtenberg

11

object named as

Marjolijn J L Ligtenberg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

author name string

Gillian Ellison

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sally Luke

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Paul M Waring

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Andrew Wallace

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Ronnie Wright

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Benno Röthlisberger

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Katja Ludin

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Sabine Merkelbach-Bruse

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Carina Heydt

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

David Gonzalez de Castro

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Thomas Jones

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Olga Kondrashova

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Patrick Pauwels

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Christine Weyn

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Eric Hahnen

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Jan Hauke

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Richie Soong

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Zhongwu Lai

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Brian Dougherty

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

Justin Johnson

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

John Mills

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

J Carl Barrett

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

publication date

28 December 2017

1 reference

http://europepmc.org/abstract/PMC/5838520

14 June 2018

published in

Human Mutation

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

volume

39

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

page(s)

394-405

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting

12 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

ClinVar: public archive of interpretations of clinically relevant variants

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

High-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencing

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

Olaparib maintenance therapy in patients with platinum-sensitive relapsed serous ovarian cancer: a preplanned retrospective analysis of outcomes by BRCA status in a randomised phase 2 trial.

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

SAMBLASTER: fast duplicate marking and structural variant read extraction

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

BRCA mutation frequency and patterns of treatment response in BRCA mutation-positive women with ovarian cancer: a report from the Australian Ovarian Cancer Study Group

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

BRCA1 and BRCA2 mutations correlate with TP53 abnormalities and presence of immune cell infiltrates in ovarian high-grade serous carcinoma.

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

Association of BRCA1 and BRCA2 mutations with survival, chemotherapy sensitivity, and gene mutator phenotype in patients with ovarian cancer

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

Genomic rearrangements in BRCA1 and BRCA2: A literature review.

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

A comparison of ARMS and DNA sequencing for mutation analysis in clinical biopsy samples

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

Somatic mutations in BRCA1 and BRCA2 could expand the number of patients that benefit from poly (ADP ribose) polymerase inhibitors in ovarian cancer

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

Fast and accurate long-read alignment with Burrows-Wheeler transform

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

Detection of DNA copy number alterations in cancer by array comparative genomic hybridization

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

BRCA Testing by Single-Molecule Molecular Inversion Probes

14 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

Genome-wide, high-resolution detection of copy number, loss of heterozygosity, and genotypes from formalin-fixed, paraffin-embedded tumor tissue using microarrays

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

Somatic mutations in the BRCA1 gene in sporadic ovarian tumours.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5838520

BRCA1/2 mutations and expression: Response to platinum chemotherapy in patients with advanced stage epithelial ovarian cancer

14 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.23375

inferred from DOI database lookup

7 January 2021

based on heuristic

Long-Term Responders on Olaparib Maintenance in High-Grade Serous Ovarian Cancer: Clinical and Molecular Characterization

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.23375

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.23375

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29215764%20AND%20SRC:MED&resulttype=core&format=json

12 June 2020

1 reference