(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

PubMed publication ID

22889855

1 reference