(Q38925408)

7 September 2017

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title

Hereditary breast and ovarian cancer: new genes in confined pathways (English)

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7 September 2017

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1

Finn Cilius Nielsen

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author name string

Thomas van Overeem Hansen

series ordinal

2

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7 September 2017

Claus Storgaard Sørensen

series ordinal

3

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7 September 2017

language of work or name

English

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publication date

12 August 2016

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7 September 2017

published in

Nature Reviews Cancer

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7 September 2017

volume

16

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7 September 2017

issue

9

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7 September 2017

page(s)

599-612

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Mutation and cancer: statistical study of retinoblastoma

7 September 2017

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The Role of Risk-Reducing Surgery in Hereditary Breast and Ovarian Cancer

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Investigating the structure and dynamics of the PIK3CA wild-type and H1047R oncogenic mutant

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The Structural Basis of Oncogenic Mutations G12, G13 and Q61 in Small GTPase K-Ras4B.

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Integrating mutation data and structural analysis of the TP53 tumor-suppressor protein

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Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes

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Loss of exon identity is a common mechanism of human inherited disease

21 January 2018

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

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Functional characterization of BRCA1 gene variants by mini-gene splicing assay

21 January 2018

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Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium

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Functional assays for analysis of variants of uncertain significance in BRCA2.

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Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

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E3 ligase activity of BRCA1 is not essential for mammalian cell viability or homology-directed repair of double-strand DNA breaks

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BRCA1 tumor suppression depends on BRCT phosphoprotein binding, but not its E3 ligase activity

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A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity

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Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway

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A comprehensive functional characterization of BRCA2 variants associated with Fanconi anemia using mouse ES cell-based assay

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Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay.

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A high-throughput functional complementation assay for classification of BRCA1 missense variants

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Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations

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21 January 2018

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https://api.crossref.org/works/10.1038%2FNRC.2016.72

Identification of molecular apocrine breast tumours by microarray analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Phenotypic and molecular characterization of the claudin-low intrinsic subtype of breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

The retinoblastoma gene undergoes rearrangements in BRCA1-deficient basal-like breast cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Classifications within molecular subtypes enables identification of BRCA1/BRCA2 mutation carriers by RNA tumor profiling

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Whole-genome characterization of chemoresistant ovarian cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Association of BRCA1/2 defects with genomic scores predictive of DNA damage repair deficiency among breast cancer subtypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Functional ex vivo assay to select homologous recombination-deficient breast tumors for PARP inhibitor treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

The topography of mutational processes in breast cancer genomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Landscape of somatic mutations in 560 breast cancer whole-genome sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

CDH1 germline mutations and hereditary lobular breast cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Germline CDH1 mutations in bilateral lobular carcinoma in situ

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Risk of benign tumours of nervous system, and of malignant neoplasms, in people with neurofibromatosis: population-based record-linkage study

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Age-specific risk of breast cancer in women with neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

PTEN: a yin-yang master regulator protein in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Inherited PTEN mutations and the prediction of phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Lifetime cancer risks in individuals with germline PTEN mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Essential role for nuclear PTEN in maintaining chromosomal integrity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

PTEN deletion in prostate cancer cells does not associate with loss of RAD51 function: implications for radiotherapy and chemotherapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Cell cycle checkpoint defects contribute to genomic instability in PTEN deficient cells independent of DNA DSB repair.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

PTEN loss compromises homologous recombination repair in astrocytes: implications for glioblastoma therapy with temozolomide or poly(ADP-ribose) polymerase inhibitors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Mechanistic Rationale to Target PTEN-Deficient Tumor Cells with Inhibitors of the DNA Damage Response Kinase ATM.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Targeting LKB1 in cancer - exposing and exploiting vulnerabilities

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Peutz-Jeghers syndrome: a systematic review and recommendations for management

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Relative frequency and morphology of cancers in STK11 mutation carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

LKB1 preserves genome integrity by stimulating BRCA1 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

DNA sequencing with chain-terminating inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Gene expression patterns in ovarian carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Targeted capture and massively parallel sequencing of 12 human exomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

CHEK2*1100delC genotyping for clinical assessment of breast cancer risk: meta-analyses of 26,000 patient cases and 27,000 controls

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Breast-cancer risk in families with mutations in PALB2

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Germline RAD51C mutations confer susceptibility to ovarian cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Relative frequency and morphology of cancers in carriers of germline TP53 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

“BRCAness” Syndrome in Ovarian Cancer: A Case-Control Study Describing the Clinical Features and Outcome of Patients With Epithelial Ovarian Cancer Associated WithBRCA1andBRCA2Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

First Report of Ovarian Dysgerminoma in Cowden Syndrome with Germline PTEN Mutation and PTEN-related 10q Loss of Tumor Heterozygosity

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Breast cancer in young women

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

NBS1 variant I171V and breast cancer risk

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Clinical management of hereditary colorectal cancer syndromes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

The MRE11/RAD50/NBS1 complex destabilization in Lynch-syndrome patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

ATM-dependent Phosphorylation of the Fanconi Anemia Protein PALB2 Promotes the DNA Damage Response

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Homologous Recombination Deficiency (HRD) Score Predicts Response to Platinum-Containing Neoadjuvant Chemotherapy in Patients with Triple-Negative Breast Cancer.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Deficiency in the Repair of DNA Damage by Homologous Recombination and Sensitivity to Poly(ADP-Ribose) Polymerase Inhibition

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Menopausal hormone replacement therapy and risk of ovarian cancer

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Genome-wide transcriptome profiling of homologous recombination DNA repair

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

E-cadherin germline mutations define an inherited cancer syndrome dominated by diffuse gastric cancer

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Extracolonic cancer in hereditary nonpolyposis colorectal cancer

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Germline 657del5 mutation in the NBS1 gene in breast cancer patients

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRC.2016.72

Deficiency in the repair of DNA damage by homologous recombination and sensitivity to poly(ADP-ribose) polymerase inhibition

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27515922

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genetics of breast cancer: a topic in evolution

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27515922

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

PARP Inhibitors in Epithelial Ovarian Cancer: State of Art and Perspectives of Clinical Research

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27515922

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRC.2016.72

1 reference

Dimensions Publication ID

7 September 2017

1034218927

0 references

1 reference