(Q36763221)

16 August 2017

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer (English)

1 reference

16 August 2017

1 reference

Katherine L Nathanson

object named as

Katherine L Nathanson

14

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Susan M Domchek

1

object named as

Susan M Domchek

1 reference

16 August 2017

11

Fergus J Couch

1 reference

16 August 2017

William David Foulkes

15

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William D Foulkes

1 reference

16 August 2017

7

Alvaro N A Monteiro

1 reference

16 August 2017

12

David E Goldgar

1 reference

16 August 2017

5

Nancy Hamel

1 reference

16 August 2017

13

H Rosemarie Davidson

1 reference

16 August 2017

6

Marc Tischkowitz

1 reference

16 August 2017

Jiangbo Tang

2

1 reference

16 August 2017

Jill Stopfer

3

1 reference

16 August 2017

Dana R Lilli

4

1 reference

16 August 2017

Troy E Messick

8

1 reference

16 August 2017

Jacquelyn Powers

9

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16 August 2017

Alexandria Yonker

10

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16 August 2017

Roger A Greenberg

16

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16 August 2017

language of work or name

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26 December 2012

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16 August 2017

1 reference

16 August 2017

3

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16 August 2017

4

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16 August 2017

399-405

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Mechanisms of BRCA1 tumor suppression

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

ATM-dependent chromatin changes silence transcription in cis to DNA double-strand 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=3625496

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

Toward classification of BRCA1 missense variants using a biophysical approach.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

Fanconi anemia is associated with a defect in the BRCA2 partner PALB2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood 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=3625496

Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

BACH1 is critical for homologous recombination and appears to be the Fanconi anemia gene product FANCJ.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

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=3625496

Breast and ovarian cancer risks due to inherited mutations in BRCA1 and 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=3625496

A full-likelihood method for the evaluation of causality of sequence variants from family data

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

Biallelic inactivation of BRCA2 in Fanconi anemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

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=3625496

Tumorigenesis in mice carrying a truncating 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=3625496

Evidence of a founder BRCA1 mutation in Scotland

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

The genetic epidemiology of early-onset epithelial ovarian cancer: a population-based 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=3625496

Localization of BRCA1 and a splice variant identifies the nuclear localization signal

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

Acute chemotherapy-related toxicity is not increased in BRCA1 and BRCA2 mutation carriers treated for breast cancer in the United Kingdom

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3625496

Apparent human BRCA1 knockout caused by mispriming during polymerase chain reaction: implications for genetic testing

5 September 2018

1 reference

12 December 2020

A human BRCA1 gene knockout

1 reference

12 December 2020

Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations

1 reference

12 December 2020

Fanconi anemia and breast cancer susceptibility

1 reference

12 December 2020

10.1158/2159-8290.CD-12-0421

Identifiers

DOI

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

23269703

1 reference