(Q33684029)

24884479

28 July 2017

title

Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients (English)

1 reference

28 July 2017

1 reference

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Giovana Tardin Torrezan

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Ana Cristina Krepischi

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Mauro Rossi

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Dirce Carraro

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

3

Marcia Cp Figueiredo

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

author name string

Bianca Cg Lisboa

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Erika Mm Santos

5

1 reference

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6 June 2020

Maria I Achatz

8

1 reference

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6 June 2020

language of work or name

1 reference

15 May 2014

1 reference

28 July 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

page(s)

55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil

6 June 2020

cites work

1 reference

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An intronic polymorphic deletion in the PTEN gene: implications for molecular diagnostic testing

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Comprehensive molecular portraits of human breast tumours

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

A novel SYBR-based duplex qPCR for the detection of gene dosage: detection of an APC large deletion in a familial adenomatous polyposis patient with an unusual phenotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Germline DNA copy number variation in familial and early-onset breast cancer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Prevalence of the BRCA1 founder mutation c.5266dupin Brazilian individuals at-risk for the hereditary breast and ovarian cancer syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Clinical management of hereditary breast cancer syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Susceptibility to breast cancer: hereditary syndromes and low penetrance genes.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Cost-effectiveness of screening BRCA1/2 mutation carriers with breast magnetic resonance imaging

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Variants in CHEK2 other than 1100delC do not make a major contribution to breast cancer susceptibility

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Mutation analysis of the BRCA1 gene in 23 families with cases of cancer of the breast, ovary, and multiple other sites

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

A single BRCA2 mutation in male and female breast cancer families from Iceland with varied cancer phenotypes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4038072

Highly prevalent TP53 mutation predisposing to many cancers in the Brazilian population: a case for newborn screening?

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-55

Prevalence of BRCA1 and BRCA2 gene mutations in families with medium and high risk of breast and ovarian cancer in Brazil

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-55

Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-55

Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-55

Ten genes for inherited breast cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-55

Founder effect of the BRCA1 5382insC mutation in Brazilian patients with hereditary breast ovary cancer syndrome

21 January 2018

1 reference

12 December 2020

Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history

1 reference

12 December 2020

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population

1 reference

12 December 2020

Rare germline large rearrangements in the BRCA1/2 genes and eight candidate genes in 472 patients with breast cancer predisposition

1 reference

12 December 2020

Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer

1 reference

12 December 2020

Genetic testing in an ethnically diverse cohort of high-risk women: a comparative analysis of BRCA1 and BRCA2 mutations in American families of European and African ancestry

1 reference

12 December 2020

Family history of breast and ovarian cancers and BRCA1 and BRCA2 mutations in a population-based series of early-onset breast cancer

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-15-55

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

6 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

24884479

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24884479%20AND%20SRC:MED&resulttype=core&format=json