Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? (Q36465306)

14 August 2017

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

1 reference

14 August 2017

Georgia Chenevix-Trench

14

Georgia Chenevix-Trench

0 references

Sunil R Lakhani

Sunil R Lakhani

5

0 references

Fergus J. Couch

10

Fergus J Couch

1 reference

14 August 2017

kConFab Investigators

9

kConFab Investigators

1 reference

14 August 2017

2

Amanda B Spurdle

1 reference

14 August 2017

12

David E Goldgar

1 reference

14 August 2017

Paul K Lovelock

1

1 reference

14 August 2017

Myth T S Mok

3

1 reference

14 August 2017

Daniel J Farrugia

4

1 reference

14 August 2017

Sue Healey

6

1 reference

14 August 2017

Stephen Arnold

7

1 reference

14 August 2017

Daniel Buchanan

8

1 reference

14 August 2017

Beric R Henderson

11

1 reference

14 August 2017

Sean V Tavtigian

13

1 reference

14 August 2017

Melissa A Brown

15

1 reference

14 August 2017

1 January 2007

1 reference

14 August 2017

Breast Cancer Research

1 reference

14 August 2017

9

1 reference

14 August 2017

R82

1 reference

14 August 2017

6

1 reference

https://scigraph.springernature.com/pub.10.1186/bcr1826

14 August 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Cellular functions of the BRCA tumour-suppressor proteins

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Classification of BRCA1 missense variants of unknown clinical 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=2246181

The BRCA1 RING and BRCT domains cooperate in targeting BRCA1 to ionizing radiation-induced nuclear foci

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and 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=2246181

Functional characterization of BRCA1 sequence variants using a yeast small colony phenotype assay

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Cytoplasmic mislocalization of BRCA1 caused by cancer-associated mutations in the BRCT domain.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Structural consequences of a cancer-causing BRCA1-BRCT missense mutation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Centrosome amplification drives chromosomal instability in breast tumor development

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

The LIM domain protein LMO4 interacts with the cofactor CtIP and the tumor suppressor BRCA1 and inhibits BRCA1 activity

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Genetic analysis of BRCA1 function in a defined tumor cell line

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Prediction of BRCA1 status in patients with breast cancer using estrogen receptor and basal phenotype

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Multifactorial analysis of differences between sporadic breast cancers and cancers involving BRCA1 and BRCA2 mutations.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

In vitro analysis of genomic instability triggered by BRCA1 missense mutations.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

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

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

The effects of BRCA1 missense variants V1804D and M1628T on transcriptional activity.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Increased cancer risk of heterozygotes with NBS1 germline mutations in Poland

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations.

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles

21 September 2018

1 reference

A common coding variant in CASP8 is associated with breast cancer risk

21 January 2018

1 reference

Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance

21 January 2018

1 reference

Counting potentially functional variants in BRCA1, BRCA2 and ATM predicts breast cancer susceptibility

21 January 2018

1 reference

G1738R is a BRCA1 founder mutation in Greek breast/ovarian cancer patients: evaluation of its pathogenicity and inferences on its genealogical history

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients

4 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2246181

Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors

4 December 2018

1 reference

12 December 2020

Characterization of Common BRCA1 and BRCA2 Variants

1 reference

12 December 2020

Germline mutations 657del5 of the NBS1 gene contribute significantly to the incidence of breast cancer in Central Poland

1 reference

12 December 2020

Identification of a common polymorphism in the TopBP1 gene associated with hereditary susceptibility to breast and ovarian cancer

1 reference

12 December 2020

The pathology of familial breast cancer: histological features of cancers in families not attributable to mutations in BRCA1 or BRCA2

1 reference

12 December 2020

Identifiers

DOI

10.1186/BCR1826

1 reference

Dimensions Publication ID

14 August 2017

0 references

1 reference

14 August 2017

1 reference