(Q28539000)

6

0 references

Marcelo A Carvalho

Marcelo A Carvalho

9

0 references

Alvaro Monteiro

8

Edwin Severin Iversen, Jr.

Alvaro N A Monteiro

0 references

7

Edwin S Iversen

0 references

Aneliya Velkova

3

Aneliya Velkova

0 references

Sylvia M Marsillac

4

Sylvia Marsillac

0 references

Renato S Rodarte

5

Renato S Rodarte

0 references

author name string

Renato S Carvalho

1

0 references

Renata B V Abreu

Creative Commons Attribution 4.0 International

2

0 references

language of work or name

English

0 references

publication date

2014

0 references

published in

PLOS One

0 references

volume

9

0 references

issue

5

0 references

page(s)

e97766

0 references

copyright license

start time

20 May 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A guide for functional analysis of BRCA1 variants of uncertain significance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

PALB2 is an integral component of the BRCA complex required for homologous recombination repair

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Characterization of BRCA1 and BRCA2 mutations in a large United States sample

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Role for ATM in DNA damage-induced phosphorylation of BRCA1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Two decades after BRCA: setting paradigms in personalized cancer care and prevention

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Missense variants of uncertain significance (VUS) altering the phosphorylation patterns of BRCA1 and BRCA2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Genetic susceptibility to breast cancer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Penetrance estimates for BRCA1 and BRCA2 based on genetic testing in a Clinical Cancer Genetics service setting: risks of breast/ovarian cancer quoted should reflect the cancer burden in the family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Functional assays for BRCA1 and BRCA2.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

BRCA1 phosphorylation: biological consequences

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Classification of BRCA1 missense variants of unknown clinical significance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

A naturally occurring allele of BRCA1 coding for a temperature-sensitive mutant protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Functional assay for BRCA1: mutagenesis of the COOH-terminal region reveals critical residues for transcription activation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Characterization of a breast cancer cell line derived from a germ-line BRCA1 mutation carrier.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Evidence for a transcriptional activation function of BRCA1 C-terminal region

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals

3 June 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0097766

Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0097766

Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0097766

Advanced tools for BRCA1/2 mutational screening: comparison between two methods for large genomic rearrangements (LGRs) detection.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Characteristics of individuals with breast cancer rearrangements in BRCA1 and BRCA2.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4028255

Transcriptional activation by BRCA1

27 November 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0097766

Cell cycle differences in DNA damage-induced BRCA1 phosphorylation affect its subcellular localization

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24845084

12 December 2020

inferred from PubMed ID database lookup

One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations: results of a prospective study in Southern Sweden

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24845084

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24845084

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1371/JOURNAL.PONE.0097766

1 reference

release_4pnp6krykvb5lmeydl45mvhvva

0 references

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4pnp6krykvb5lmeydl45mvhvva

24 November 2022

mapped directly with Wikidata item

3893690

1 reference

1 reference

3893690

PubMed publication ID

24845084

1 reference