(Q37052120)

English

BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.

scientific article published on 25 September 2012

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23961350%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23961350%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1 reference

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Sergio Chialina

7

1 reference

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7 March 2020

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Angela Rosaria Solano

1

1 reference

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7 March 2020

Gitana Maria Aceto

2

1 reference

Europe PubMed Central

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7 March 2020

Dreanina Delettieres

3

1 reference

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7 March 2020

Serena Veschi

4

1 reference

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7 March 2020

Maria Isabel Neuman

5

1 reference

Europe PubMed Central

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7 March 2020

Eduardo Alonso

6

1 reference

Europe PubMed Central

PMC publication ID

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7 March 2020

Reinaldo Daniel Chacón

8

1 reference

Europe PubMed Central

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7 March 2020

Mariani-Costantini Renato

9

1 reference

Europe PubMed Central

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7 March 2020

Ernesto Jorge Podestá

10

1 reference

Europe PubMed Central

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7 March 2020

publication date

25 September 2012

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Europe PubMed Central

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7 March 2020

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23961350%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23961350%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

20

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23961350%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

copyright license

Creative Commons Attribution 2.0 Generic

25 September 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

1 reference

April 2022 Public Data File from Crossref

Management options in triple-negative breast cancer

1 reference

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On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations

1 reference

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29 September 2017

The role of BRCA mutation testing in determining breast cancer therapy

1 reference

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29 September 2017

BRCA mutations in the management of breast cancer: the state of the art

1 reference

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29 September 2017

Integrating common and rare genetic variation in diverse human populations

1 reference

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29 September 2017

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

1 reference

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29 September 2017

Performance of common genetic variants in breast-cancer risk models

1 reference

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29 September 2017

Long-term outcomes of breast cancer in women aged 30 years or younger, based on family history, pathology and BRCA1/BRCA2/TP53 status

1 reference

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29 September 2017

BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1 gene in Sri Lankan breast cancer patients and at risk individuals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Geographic patterns of genome admixture in Latin American Mestizos

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Evidence for common ancestral origin of a recurring BRCA1 genomic rearrangement identified in high-risk Hispanic families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Prevalence of BRCA mutations and founder effect in high-risk Hispanic families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Ashkenazi Jewish genetic disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

BRCA1 and BRCA2 germline mutation spectrum and frequencies in Belgian breast/ovarian cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Familial risks of breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

A BRCA1 mutation in Native North American families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Accounting for human polymorphisms predicted to affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Breast cancer in South America: challenges to improve early detection and medical management of a public health problem

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Reference database of hypervariable genetic markers of Argentina: application for molecular anthropology and forensic casework

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

The founder mutations 185delAG and 5382insC in BRCA1 and 6174delT in BRCA2 appear in 60% of ovarian cancer and 30% of early-onset breast cancer patients among Ashkenazi women

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

Identification of the breast cancer susceptibility gene BRCA2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

29 September 2017

High-risk human papilloma virus infection, tumor pathophenotypes, and BRCA1/2 and TP53 status in juvenile breast cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

27 June 2018

Penetrance and clinical manifestations of non-hotspot germline RET mutation, C630R, in a family with medullary thyroid carcinoma

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

27 June 2018

BRCA1 and BRCA2 germline mutations in 85 Iranian breast cancer patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

4 September 2018

BRCA1 and BRCA2 germline mutations in Uruguayan breast and breast-ovarian cancer families. Identification of novel mutations and unclassified variants.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

4 September 2018

High proportion of BRCA1/2 founder mutations in Hispanic breast/ovarian cancer families from Colombia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

4 September 2018

Incidence of BRCA1 and BRCA2 mutations in 54 Chilean families with breast/ovarian cancer, genotype-phenotype correlations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

4 September 2018

First genotype characterization of Argentinean FAP patients: identification of 14 novel APC mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

4 September 2018

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

4 September 2018

Prevalence of BRCA1 and BRCA2 germline mutations in young breast cancer patients: a population-based study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3725882

4 September 2018

BRCA1Mutations in a Population-Based Sample of Young Women with Breast Cancer

1 reference

https://api.crossref.org/works/10.1186%2F2193-1801-1-20

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1186%2F2193-1801-1-20

21 January 2018

A cautionary note: false homozygosity for BRCA2 6174delT mutation resulting from a single nucleotide polymorphism masking the wt allele

1 reference

https://pubmed.ncbi.nlm.nih.gov/23961350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening: BRCA testing in women younger than 50 with triple-negative breast cancer is cost effective

1 reference

https://pubmed.ncbi.nlm.nih.gov/23961350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

https://pubmed.ncbi.nlm.nih.gov/23961350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutational analysis of BRCA1 and BRCA2 genes in Mexican breast cancer patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/23961350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families

1 reference

https://pubmed.ncbi.nlm.nih.gov/23961350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Family history, BRCA mutations and breast cancer in Vietnamese women

1 reference

https://pubmed.ncbi.nlm.nih.gov/23961350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The genetic attributable risk of breast and ovarian cancer

1 reference

https://pubmed.ncbi.nlm.nih.gov/23961350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding the Criteria forBRCAMutation Testing in Breast Cancer Survivors

1 reference

https://pubmed.ncbi.nlm.nih.gov/23961350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BRCA1 and BRCA2 mutations in a South American population

1 reference

https://pubmed.ncbi.nlm.nih.gov/23961350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

BRCA1 and BRCA2 sequence variants in Chinese breast cancer families

1 reference

https://pubmed.ncbi.nlm.nih.gov/23961350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of BRCA1 and BRCA2 mutations in breast cancer patients from Brazil

1 reference

https://pubmed.ncbi.nlm.nih.gov/23961350

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/2193-1801-1-20

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23961350%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

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PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23961350%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23961350%20AND%20SRC:MED&resulttype=core&format=json

7 March 2020

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