Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant (Q36408445)

14 August 2017

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant (English)

1 reference

14 August 2017

Sergey G Kuznetsov

4

0 references

Tomas Kirchhoff

Tomas Kirchhoff

6

0 references

Mark Robson

Mark E Robson

13

0 references

William David Foulkes

William D Foulkes

16

0 references

Kenneth Offit

12

Kenneth Offit

1 reference

14 August 2017

11

Kathleen Claes

1 reference

14 August 2017

10

Steven A Narod

1 reference

14 August 2017

5

Nancy Hamel

1 reference

14 August 2017

Lili Li

1

1 reference

14 August 2017

Kajal Biswas

2

1 reference

14 August 2017

Laura Anne Habib

3

1 reference

14 August 2017

Nora Wong

7

1 reference

14 August 2017

Susan Armel

8

1 reference

14 August 2017

George Chong

9

1 reference

14 August 2017

Stacey Stauffer

14

1 reference

14 August 2017

Shyam K Sharan

15

1 reference

14 August 2017

1 November 2009

1 reference

14 August 2017

1 reference

14 August 2017

30

1 reference

14 August 2017

11

1 reference

14 August 2017

1543-1550

1 reference

A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Mouse embryonic stem cell-based functional assay to evaluate mutations in BRCA2

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Suppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Simple and highly efficient BAC recombineering using galK selection

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

The New York Cancer Project: rationale, organization, design, and baseline characteristics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

A simple two-step, 'hit and fix' method to generate subtle mutations in BACs using short denatured PCR fragments

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

BRCA2 T2722R is a deleterious allele that causes exon skipping

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Listening to silence and understanding nonsense: exonic mutations that affect splicing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Pre-mRNA splicing in the new millennium

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

DNA double-strand breaks: signaling, repair and the cancer connection

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Altered expression of BRCA1, BRCA2, and a newly identified BRCA2 exon 12 deletion variant in malignant human ovarian, prostate, and breast cancer cell lines.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Increased level of exon 12 alternatively spliced BRCA2 transcripts in tumor breast tissue compared with normal tissue

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

BRCA1 and BRCA2 mutations account for a large proportion of ovarian carcinoma cases

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

BRCA1 and BRCA2 mutations in breast cancer families with multiple primary cancers

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3501199

BRCA2 is required for ionizing radiation-induced assembly of Rad51 complex in vivo

21 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19795481

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Polygenes, risk prediction, and targeted prevention of breast cancer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19795481

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.21101

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

19795481

1 reference