(Q37205554)

18 August 2017

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

1 reference

18 August 2017

19

Peter Devilee

0 references

Christi J van Asperen

4

object named as

Christi J van Asperen

1 reference

18 August 2017

Nicoline Hoogerbrugge

6

object named as

Nicoline Hoogerbrugge

1 reference

18 August 2017

Marjolijn J L Ligtenberg

13

object named as

Marjolijn Ligtenberg

1 reference

18 August 2017

Encarna B Gómez García

1

1 reference

18 August 2017

Jan C Oosterwijk

2

1 reference

18 August 2017

Maarten Timmermans

3

1 reference

18 August 2017

Frans B L Hogervorst

5

1 reference

18 August 2017

Rogier Oldenburg

7

1 reference

18 August 2017

Senno Verhoef

8

1 reference

18 August 2017

Charlotte J Dommering

9

1 reference

18 August 2017

Margreet G E M Ausems

10

1 reference

18 August 2017

Theo A M van Os

11

1 reference

18 August 2017

Annemarie H van der Hout

12

1 reference

18 August 2017

Ans van den Ouweland

14

1 reference

18 August 2017

Rob B van der Luijt

15

1 reference

18 August 2017

Juul T Wijnen

16

1 reference

18 August 2017

Jan J P Gille

17

1 reference

18 August 2017

Patrick J Lindsey

18

1 reference

18 August 2017

Marinus J Blok

20

1 reference

18 August 2017

Maaike P G Vreeswijk

21

1 reference

18 August 2017

6 February 2009

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18 August 2017

Breast Cancer Research

1 reference

18 August 2017

11

1 reference

18 August 2017

1

1 reference

18 August 2017

R8

1 reference

https://scigraph.springernature.com/pub.10.1186/bcr2223

18 August 2017

0 references

cites work

Genetic evidence and integration of various data sources for classifying uncertain variants into a single model

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Functional assays for classification of BRCA2 variants of uncertain significance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Evaluation of models to predict BRCA germline mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Insights into the molecular basis of human hereditary breast cancer from studies of the BRCA1 BRCT domain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Optimal selection of individuals for BRCA mutation testing: a comparison of available methods

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Structure and mechanism of BRCA1 BRCT domain recognition of phosphorylated BACH1 with implications for cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Understanding missense mutations in the BRCA1 gene: an evolutionary approach

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

BRCA1 and BRCA2 and the genetics of breast and ovarian cancer

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Functional analysis of BRCA1 C-terminal missense mutations identified in breast and ovarian cancer families

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Determining carrier probabilities for breast cancer-susceptibility genes BRCA1 and BRCA2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Amino acid difference formula to help explain protein evolution

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2687711

Loss of heterozygosity analysis at theBRCAloci in tumor samples from patients with familial breast cancer

3 September 2018

1 reference

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

21 January 2018

1 reference

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

21 January 2018

1 reference

BRCAPRO validation, sensitivity of genetic testing of BRCA1/BRCA2, and prevalence of other breast cancer susceptibility genes

21 January 2018

1 reference

Model-based predictions of BRCA1/2 mutation status in breast carcinoma patients treated at an academic medical center

21 January 2018

1 reference

12 December 2020

Pretest prediction of BRCA1 or BRCA2 mutation by risk counselors and the computer model BRCAPRO

1 reference

12 December 2020

Characterization of Common BRCA1 and BRCA2 Variants

1 reference

12 December 2020

Establishing a control population to screen for the occurrence of nineteen unclassified variants in the BRCA1 gene by denaturing high-performance liquid chromatography

1 reference

12 December 2020

Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk

1 reference

12 December 2020

Functional evaluation and cancer risk assessment of BRCA2 unclassified variants

1 reference

12 December 2020

Patients with an unclassified genetic variant in the BRCA1 or BRCA2 genes show different clinical features from those with a mutation

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

Identifiers

DOI

10.1186/BCR2223

1 reference

Dimensions Publication ID

18 August 2017

0 references

1 reference

18 August 2017

PubMed publication ID

19200354

1 reference