Germline mutations in BRCA1, BRCA2, CHEK2 and TP53 in patients at high-risk for HBOC: characterizing a Northeast Brazilian Population (Q28389268)

1

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Camila Abe-Sandes

2

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Taísa Mb Machado-Lopes

3

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Thaís F Bomfim

4

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Rodrigo Santa Cruz Guindalini

5

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Vanessa Catarine Sar Santos

6

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Lorena Meyer

7

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Polyanna C Oliveira

8

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João Cláudio Neiva

9

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Roberto Meyer

10

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Maura Romeo

11

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Maria Betânia Toralles

12

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Ivana Nascimento

13

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Kiyoko Abe-Sandes

14

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language of work or name

English

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publication date

2014

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published in

Human Genome Variation

1 reference

Prevalence of 185delAG and 5382insC mutations in BRCA1, and 6174delT in BRCA2 in women of Ashkenazi Jewish origin in southern Brazil

volume

1

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page(s)

14012

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cites work

1 reference

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

20 March 2017

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20 March 2017

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7 April 2017

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The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews

7 April 2017

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TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families.

7 April 2017

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Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).

29 September 2017

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29 September 2017

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

29 September 2017

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An overview of hereditary breast and ovarian cancer syndrome

29 September 2017

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The R337H mutation in TP53 and breast cancer in Brazil

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

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Prognosis of BRCA-associated breast cancer: a summary of evidence

29 September 2017

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Association of the germline TP53 R337H mutation with breast cancer in southern Brazil

29 September 2017

1 reference

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Ancestry informative markers in Amerindians from Brazilian Amazon.

29 September 2017

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

29 September 2017

1 reference

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CHEK2 is a multiorgan cancer susceptibility gene

29 September 2017

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Skin pigmentation, biogeographical ancestry and admixture mapping

29 September 2017

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Mutation analysis of the CHK2 gene in families with hereditary breast cancer

29 September 2017

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

29 September 2017

1 reference

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Ethnic differences in cancer risk resulting from genetic variation

29 September 2017

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mtDNA analysis of the Galician population: a genetic edge of European variation

29 September 2017

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

29 September 2017

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Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families

29 September 2017

1 reference

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Spread and diversity of human populations in Bahia, Brazil.

29 September 2017

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The role of international migration on the evolution of the Brazilian population (1872 to 1972)

29 September 2017

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Increased incidence of choroid plexus carcinoma due to the germline TP53 R337H mutation in southern Brazil

29 September 2017

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Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect.

2 June 2018

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The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families.

2 June 2018

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Screening for a BRCA2 rearrangement in high-risk breast/ovarian cancer families: evidence for a founder effect and analysis of the associated phenotypes.

21 January 2018

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The c.156_157insAlu BRCA2 rearrangement accounts for more than one-fourth of deleterious BRCA mutations in northern/central Portugal.

21 January 2018

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Assessing individual interethnic admixture and population substructure using a 48-insertion-deletion (INSEL) ancestry-informative marker (AIM) panel.

21 January 2018

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CHEK2 1100delC, IVS2+1G>A and I157T mutations are not present in colorectal cancer cases from Turkish population.

21 January 2018

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

21 January 2018

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Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa

21 January 2018

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Haplotype and quantitative transcript analyses of Portuguese breast/ovarian cancer families with the BRCA1 R71G founder mutation of Galician origin

21 January 2018

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Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups

21 January 2018

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Routine TP53 testing for breast cancer under age 30: ready for prime time?

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FHGV.2014.12

Portuguese c.156_157insAlu BRCA2 founder mutation: gastrointestinal and tongue neoplasias may be part of the phenotype.

21 January 2018

1 reference

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CHEK2 1100DELC germline mutation: a frequency study in hereditary breast and colon cancer Brazilian families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FHGV.2014.12

Ancestry informative markers and complete blood count parameters in Brazilian blood donors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FHGV.2014.12

Assessment of the prevalence of de novo mutations in the BRCA1 and BRCA2 genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FHGV.2014.12

Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4785545

Frequency of germ-line BRCA1 mutations among Spanish families from a Mediterranean area

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27081505

12 December 2020

inferred from PubMed ID database lookup

BRCA1 and BRCA2 mutations among ovarian cancer patients from Colombia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27081505

12 December 2020

inferred from PubMed ID database lookup

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27081505

12 December 2020

inferred from PubMed ID database lookup

GENEPOP (Version 1.2): Population Genetics Software for Exact Tests and Ecumenicism

1 reference

https://api.crossref.org/works/10.1038%2FHGV.2014.12

7 January 2021

inferred from DOI database lookup

Erratum to: Association of the germline TP53 R337H mutation with breast cancer in southern Brazil

1 reference

https://api.crossref.org/works/10.1038%2FHGV.2014.12

7 January 2021

inferred from DOI database lookup

O papel da migração internacional na evolução da população brasileira (1872 a 1972)

1 reference

https://api.crossref.org/works/10.1038%2FHGV.2014.12

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/HGV.2014.12

1 reference

1 reference

1 reference

PubMed publication ID

27081505

1 reference