(Q33781403)

English

Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance

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scholarly article

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Europe PubMed Central

PubMed publication ID

29 July 2017

Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Sunil R Lakhani

object named as

Sunil R Lakhani

2

0 references

object named as

Amanda B Spurdle

1

0 references

kConFab Investigators

5

object named as

kConFab Investigators

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

6

object named as

David E Goldgar

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Rosemary L Balleine

4

object named as

Rosemary L Balleine

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

author name string

Leonard M Da Silva

3

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

publication date

1 February 2010

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Europe PubMed Central

PubMed publication ID

29 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

31

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Europe PubMed Central

PubMed publication ID

29 July 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

E1141-5

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

Prediction and assessment of splicing alterations: implications for clinical testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852636

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852636

4 July 2018

BRCA2 mutation-associated breast cancers exhibit a distinguishing phenotype based on morphology and molecular profiles from tissue microarrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852636

4 July 2018

Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852636

4 July 2018

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852636

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852636

4 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852636

30 October 2018

Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852636

30 October 2018

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852636

30 October 2018

Molecular characterization and cancer risk associated withBRCA1 andBRCA2 splice site variants identified in multiple-case breast cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2852636

30 October 2018

Identifiers

10.1002/HUMU.21181

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 July 2017

ResearchGate publication ID

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