Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion (Q34301309)

1 August 2017

title

Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion (English)

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1 August 2017

10

Maria Isabel W Achatz

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1 August 2017

4

Manuela Pinheiro

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1 August 2017

Ana Peixoto

5

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Dirce Carraro

Dirce M Carraro

7

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Carla Rosenberg

Carla Rosenberg

11

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Manuel R. Teixeira

Manuel R Teixeira

8

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Patricia Ashton-Prolla

9

Patricia Ashton-Prolla

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author name string

Amanda Gonçalves Silva

1

1 reference

1 August 2017

Ingrid Petroni Ewald

2

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1 August 2017

Marina Sapienza

3

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1 August 2017

Amanda França de Nóbrega

6

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1 August 2017

Ana C V Krepischi

12

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1 August 2017

language of work or name

English

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publication date

12 June 2012

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1 August 2017

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1 August 2017

volume

12

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1 August 2017

issue

1

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13 September 2019

page(s)

237

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

1 August 2017

cites work

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The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected

6 July 2018

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A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes

6 July 2018

1 reference

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Germline copy number variation and cancer risk

6 July 2018

1 reference

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Germline mutations and polymorphisms in the origins of cancers in women

6 July 2018

1 reference

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BRCA2: a cause of Li-Fraumeni-like syndrome

6 July 2018

1 reference

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Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database

6 July 2018

1 reference

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Large genomic deletions inactivate the BRCA2 gene in breast cancer families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3502571

Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families

6 July 2018

1 reference

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Genomic rearrangements in the BRCA1 and BRCA2 genes.

6 July 2018

1 reference

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Evolution of the tumor suppressor BRCA1 locus in primates: implications for cancer predisposition

6 July 2018

1 reference

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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

6 July 2018

1 reference

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Sensitivity and predictive value of criteria for p53 germline mutation screening

6 July 2018

1 reference

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How many more breast cancer predisposition genes are there?

6 July 2018

1 reference

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Germline TP53 alterations in Finnish breast cancer families are rare and occur at conserved mutation-prone sites

6 July 2018

1 reference

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P53 germline mutations in childhood cancers and cancer risk for carrier individuals

6 July 2018

1 reference

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Germline mutations in the TP53 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3502571

Linkage studies in a Li-Fraumeni family with increased expression of p53 protein but no germline mutation in p53.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3502571

Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.

6 July 2018

1 reference

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Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?

6 July 2018

1 reference

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A cancer family syndrome in twenty-four kindreds

6 July 2018

1 reference

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Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas, and other neoplasms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3502571

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-237

Germline mutations of TP53 and BRCA2 genes in breast cancer/sarcoma families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-237

Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-237

Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-237

Bar code screening on combed DNA for large rearrangements of the BRCA1 and BRCA2 genes in French breast cancer families

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-237

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-237

Relative frequency and morphology of cancers in carriers of germline TP53 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-237

Prediction of pathogenic mutations in patients with early-onset breast cancer by family history

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-237

BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2407-12-237

Elevated frequency and functional activity of a specific germ-line p53 intron mutation in familial 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=3502571

Screening for germ line TP53 mutations in breast cancer patients

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3502571

International Agency for Research on Cancer (http://www.iarc.fr/)

28 October 2018

1 reference

12 December 2020

Significant contribution of germline BRCA2 rearrangements in male breast cancer families

1 reference

12 December 2020

Clinical and molecular diagnosis of inherited breast-ovarian cancer

1 reference

12 December 2020

Concise handbook of familial cancer susceptibility syndromes - second edition

1 reference

12 December 2020

Germ-line TP53 mutations in Finnish cancer families exhibiting features of the Li-Fraumeni syndrome and negative for BRCA1 and BRCA2

1 reference

12 December 2020

Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2407-12-237

1 reference

Dimensions Publication ID

1 August 2017

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1 August 2017

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