(Q36921422)

17 August 2017

The BRCA1-Δ11q Alternative Splice Isoform Bypasses Germline Mutations and Promotes Therapeutic Resistance to PARP Inhibition and Cisplatin (English)

1 reference

17 August 2017

Georgia Chenevix-Trench

19

Georgia Chenevix-Trench

0 references

Violeta Serra

Violeta Serra

38

0 references

David L. Wiest

David L Wiest

31

0 references

Judith Balmaña

Judith Balmaña

37

0 references

Håkan Olsson

Håkan Olsson

20

0 references

Paul D P Pharoah

15

Paul D P Pharoah

1 reference

17 August 2017

25

Siegal Sadetzki

1 reference

17 August 2017

18

Diether Lambrechts

1 reference

17 August 2017

kConFab Investigators

28

kConFab Investigators

1 reference

17 August 2017

0 references

26

Simon A Gayther

1 reference

17 August 2017

33

Mary B Daly

1 reference

17 August 2017

16

Beth Karlan

1 reference

17 August 2017

Yifan Wang

1

1 reference

17 August 2017

Andrea J Bernhardy

2

1 reference

17 August 2017

Cristina Cruz

3

1 reference

17 August 2017

John J Krais

4

1 reference

17 August 2017

Joseph Nacson

5

1 reference

17 August 2017

Emmanuelle Nicolas

6

1 reference

17 August 2017

Suraj Peri

7

1 reference

17 August 2017

Hanneke van der Gulden

8

1 reference

17 August 2017

Ingrid van der Heijden

9

1 reference

17 August 2017

Shane W O'Brien

10

1 reference

17 August 2017

Yong Zhang

11

1 reference

17 August 2017

Maribel I Harrell

12

1 reference

17 August 2017

Shawn F Johnson

13

1 reference

17 August 2017

Francisco J Candido Dos Reis

14

1 reference

17 August 2017

Charlie Gourley

17

1 reference

17 August 2017

Javier J Benitez

21

1 reference

17 August 2017

Mark H Greene

22

1 reference

17 August 2017

Martin Gore

23

1 reference

17 August 2017

Robert Nussbaum

24

1 reference

17 August 2017

Susanne K Kjaer

27

1 reference

17 August 2017

Alan D D'Andrea

29

1 reference

17 August 2017

Geoffrey I Shapiro

30

1 reference

17 August 2017

Denise C Connolly

32

1 reference

17 August 2017

Elizabeth M Swisher

34

1 reference

17 August 2017

Peter Bouwman

35

1 reference

17 August 2017

Jos Jonkers

36

1 reference

17 August 2017

Neil Johnson

39

1 reference

17 August 2017

language of work or name

English

0 references

publication date

1 May 2016

1 reference

17 August 2017

1 reference

17 August 2017

76

1 reference

17 August 2017

9

1 reference

17 August 2017

2778-2790

1 reference

BRCA1 Alternative splicing landscape in breast tissue samples.

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Synthetic lethality and cancer therapy: lessons learned from the development of PARP inhibitors

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

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.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

BRCA1 exon 11 a model of long exon splicing regulation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Mechanisms of resistance to therapies targeting BRCA-mutant cancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Stabilization of mutant BRCA1 protein confers PARP inhibitor and platinum resistance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Efficacy of chemotherapy in BRCA1/2 mutation carrier ovarian cancer in the setting of PARP inhibitor resistance: a multi-institutional study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

The poly(ADP-ribose) polymerase inhibitor niraparib (MK4827) in BRCA mutation carriers and patients with sporadic cancer: a phase 1 dose-escalation trial

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Association between BRCA1 and BRCA2 mutations and survival in women with invasive epithelial ovarian cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

RBFOX2 promotes protein 4.1R exon 16 selection via U1 snRNP recruitment

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Secondary somatic mutations restoring BRCA1/2 predict chemotherapy resistance in hereditary ovarian carcinomas.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

53BP1 loss rescues BRCA1 deficiency and is associated with triple-negative and BRCA-mutated breast cancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

53BP1 inhibits homologous recombination in Brca1-deficient cells by blocking resection of DNA breaks

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Cancer-associated regulation of alternative splicing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

PALB2 is an integral component of the BRCA complex required for homologous recombination repair

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

High sensitivity of BRCA1-deficient mammary tumors to the PARP inhibitor AZD2281 alone and in combination with platinum drugs

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Resistance to therapy caused by intragenic deletion in BRCA2

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Regulation of H-ras splice variant expression by cross talk between the p53 and nonsense-mediated mRNA decay pathways.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

The role of BRCA1 in the cellular response to chemotherapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

BRCA1 functions as a differential modulator of chemotherapy-induced apoptosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Emerging roles of BRCA1 alternative splicing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Structural consequences of a cancer-causing BRCA1-BRCT missense mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Homology-directed dna repair, mitomycin-c resistance, and chromosome stability is restored with correction of a Brca1 mutation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Impaired DNA damage response in cells expressing an exon 11-deleted murine Brca1 variant that localizes to nuclear foci

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Expression profiles of BRCA1 splice variants in asynchronous and in G1/S synchronized tumor cell lines

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumour formation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Differential subcellular localization, expression and biological toxicity of BRCA1 and the splice variant BRCA1-delta11b

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Inherited breast and ovarian cancer.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Whole-genome characterization of chemoresistant ovarian cancer.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

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

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

BRCA1 RING function is essential for tumor suppression but dispensable for therapy resistance.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Olaparib in patients with recurrent high-grade serous or poorly differentiated ovarian carcinoma or triple-negative breast cancer: a phase 2, multicentre, open-label, non-randomised study

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Splicing factor SF3b as a target of the antitumor natural product pladienolide.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Genetic interactions between tumor suppressors Brca1 and p53 in apoptosis, cell cycle and tumorigenesis.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4874568

Variation in BRCA1 cancer risks by mutation position

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27197267

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27197267

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1158/0008-5472.CAN-16-0186

1 reference

17 August 2017

1 reference

17 August 2017

1 reference