Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. (Q49097031)

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English	Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.	scientific article

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scholarly article

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Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity. (English)

1 reference

Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

1 reference

based on heuristic

inferred from title

Manuela Pinheiro

7

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Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

8

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Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

Catarina Santos

object named as

Catarina Santos

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Patrícia Rocha

object named as

Patrícia Rocha

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object named as

Pedro Pinto

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object named as

Carla Pinto

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object named as

Isabel Veiga

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Manuel R. Teixeira

object named as

Manuel R Teixeira

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author name string

Paula Paulo

2

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Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

language of work or name

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publication date

23 August 2016

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Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

Breast Cancer Research and Treatment

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Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

159

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Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

245-256

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Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

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Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

https://scigraph.springernature.com/pub.10.1007/s10549-016-3948-z

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

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Identification of the breast cancer susceptibility gene BRCA2

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

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.

1 reference

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21 January 2018

Two decades after BRCA: setting paradigms in personalized cancer care and prevention

1 reference

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21 January 2018

The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry.

1 reference

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21 January 2018

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

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Frequency and spectrum of cancers in the Peutz-Jeghers syndrome

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Breast-cancer risk in families with mutations in PALB2

1 reference

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21 January 2018

Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.

1 reference

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21 January 2018

Rare variants in the ATM gene and risk of breast cancer

1 reference

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21 January 2018

Nijmegen Breakage Syndrome mutations and risk of breast cancer

1 reference

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21 January 2018

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

1 reference

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21 January 2018

Germline mutations in RAD51D confer susceptibility to ovarian cancer

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Germline RAD51C mutations confer susceptibility to ovarian cancer

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Gene-panel sequencing and the prediction of breast-cancer risk

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

1 reference

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21 January 2018

A general framework for estimating the relative pathogenicity of human genetic variants

1 reference

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21 January 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://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

In silico prediction of splice-altering single nucleotide variants in the human genome

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

CHEK2 mutations affecting kinase activity together with mutations in TP53 indicate a functional pathway associated with resistance to epirubicin in primary breast cancer

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Response to DNA damage of CHEK2 missense mutations in familial breast cancer

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.

1 reference

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21 January 2018

Sensitivity and predictive value of criteria for p53 germline mutation screening

1 reference

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21 January 2018

Understanding the limitations of next generation sequencing informatics, an approach to clinical pipeline validation using artificial data sets

1 reference

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21 January 2018

Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing

1 reference

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay

1 reference

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21 January 2018

Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

CONTRA: copy number analysis for targeted resequencing

1 reference

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21 January 2018

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Consequences of germline variation disrupting the constitutional translational initiation codon start sites of MLH1 and BRCA2: Use of potential alternative start sites and implications for predicting variant pathogenicity

1 reference

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21 January 2018

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers

1 reference

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21 January 2018

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

1 reference

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21 January 2018

No evidence that protein truncating variants in BRIP1 are associated with breast cancer risk: implications for gene panel testing

1 reference

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21 January 2018

Multigene testing of moderate-risk genes: be mindful of the missense

1 reference

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21 January 2018

Prioritization Of Nonsynonymous Single Nucleotide Variants For Exome Sequencing Studies Via Integrative Learning On Multiple Genomic Data

1 reference

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21 January 2018

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Characterization of BRCA1 ring finger variants of uncertain significance

1 reference

https://api.crossref.org/works/10.1007%2FS10549-016-3948-Z

21 January 2018

Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation

1 reference

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21 January 2018

Germline RECQL mutations are associated with breast cancer susceptibility

1 reference

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21 January 2018

Identifiers

10.1007/S10549-016-3948-Z

1 reference

Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

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1 reference

Europe PubMed Central

18 February 2018

http://europepmc.org/abstract/MED/27553368

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