BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk (Q37261138)

19 August 2017

BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk (English)

1 reference

19 August 2017

1 reference

Sandrine Caputo

20

0 references

Melissa A Brown

Melissa A Brown

6

0 references

Christoph Engel

Christoph Engel

17

0 references

Amanda Spurdle

Amanda B Spurdle

1

0 references

Susan M Domchek

31

Susan M Domchek

1 reference

19 August 2017

Diana M Eccles

28

0 references

Barbara Wappenschmidt

34

Barbara Wappenschmidt

1 reference

19 August 2017

18

Alfons Meindl

1 reference

19 August 2017

16

Rita K Schmutzler

1 reference

19 August 2017

24

Fergus J Couch

1 reference

19 August 2017

14

Annika Lindblom

1 reference

19 August 2017

30

Javier Benitez

1 reference

19 August 2017

32

Amanda E Toland

1 reference

19 August 2017

37

David E Goldgar

1 reference

19 August 2017

3

Bryony Thompson

1 reference

19 August 2017

Ans M W van den Ouweland

12

Ans M W van den Ouweland

1 reference

19 August 2017

36

Maaike P G Vreeswijk

1 reference

19 August 2017

2

Phillip J Whiley

1 reference

19 August 2017

25

Lucia Guidugli

1 reference

19 August 2017

4

Bingjian Feng

1 reference

19 August 2017

5

Sue Healey

1 reference

19 August 2017

10

Margreet G E M Ausems

1 reference

Thomas van Overeem Hansen

19 August 2017

26

Thomas van Overeem Hansen

1 reference

19 August 2017

27

Mads Thomassen

1 reference

19 August 2017

35

Åke Borg

1 reference

Enhancing NeuroImaging Genetics through Meta-Analysis Consortium (ENIGMA)—Genetics working group

19 August 2017

38

ENIGMA Consortium

1 reference

19 August 2017

Christopher Pettigrew

7

1 reference

19 August 2017

kConFab

8

1 reference

19 August 2017

Christi J Van Asperen

9

1 reference

19 August 2017

Anna A Kattentidt-Mouravieva

11

1 reference

19 August 2017

Dutch Belgium UV Consortium

13

1 reference

19 August 2017

Maritta H Pigg

15

1 reference

19 August 2017

German Consortium of Hereditary Breast and Ovarian Cancer

19

1 reference

19 August 2017

Olga M Sinilnikova

21

1 reference

19 August 2017

Rosette Lidereau

22

1 reference

19 August 2017

French COVAR group collaborators

23

1 reference

19 August 2017

Kathy Tucker

29

1 reference

19 August 2017

Elizabeth J Van Rensburg

33

1 reference

19 August 2017

language of work or name

English

0 references

publication date

1 August 2012

1 reference

Journal of Medical Genetics

19 August 2017

1 reference

19 August 2017

49

1 reference

19 August 2017

8

1 reference

19 August 2017

525-532

1 reference

Classification of missense substitutions in the BRCA genes: a database dedicated to Ex-UVs.

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 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=3810416

Tumor suppressor BRCA1 epigenetically controls oncogenic microRNA-155

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

Common variants of the BRCA1 wild-type allele modify the risk of breast cancer in BRCA1 mutation carriers

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

Rare variants in the ATM gene and risk of breast 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=3810416

Impact of BRCA1 BRCT Domain Missense Substitutions on Phosphopeptide Recognition

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

Rare BRCA1 haplotypes including 3'UTR SNPs associated with breast cancer risk

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

Incorporating tumour pathology information into breast cancer risk prediction algorithms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

Characterization of BRCA1 ring finger 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=3810416

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

Clinically applicable models to characterize BRCA1 and 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=3810416

Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

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=3810416

Predicting the likelihood of carrying a BRCA1 or BRCA2 mutation: validation of BOADICEA, BRCAPRO, IBIS, Myriad and the Manchester scoring system using data from UK genetics clinics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

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=3810416

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=3810416

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=3810416

The BOADICEA model of genetic susceptibility to 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=3810416

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=3810416

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

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=3810416

Strategies for multilocus linkage analysis in humans

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

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

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

3 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3810416

10.1136/JMEDGENET-2012-101037

3 December 2018

Identifiers

DOI

1 reference

19 August 2017

1 reference

19 August 2017

1 reference