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BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome

Overview of attention for article published in Genetics and molecular biology, April 2016
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Title
BRCA1 and BRCA2 rearrangements in Brazilian individuals with Hereditary Breast and Ovarian Cancer Syndrome
Published in
Genetics and molecular biology, April 2016
DOI 10.1590/1678-4685-gmb-2014-0350
Pubmed ID
Authors

Ewald, Ingrid Petroni, Cossio, Silvia Liliana, Palmero, Edenir Inez, Pinheiro, Manuela, Nascimento, Ivana Lucia de Oliveira, Machado, Taisa Manuela Bonfim, Sandes, Kiyoko Abe, Toralles, Betânia, Garicochea, Bernardo, Izetti, Patricia, Pereira, Maria Luiza Saraiva, Bock, Hugo, Vargas, Fernando Regla, Moreira, Miguel Ângelo Martins, Peixoto, Ana, Teixeira, Manuel R, Ashton-Prolla, Patricia

Abstract

Approximately 5-10% of breast cancers are caused by germline mutations in high penetrance predisposition genes. Among these, BRCA1 and BRCA2, which are associated with the Hereditary Breast and Ovarian Cancer (HBOC) syndrome, are the most frequently affected genes. Recent studies confirm that gene rearrangements, especially in BRCA1, are responsible for a significant proportion of mutations in certain populations. In this study we determined the prevalence of BRCA rearrangements in 145 unrelated Brazilian individuals at risk for HBOC syndrome who had not been previously tested for BRCA mutations. Using Multiplex Ligation-dependent Probe Amplification (MLPA) and a specific PCR-based protocol to identify a Portuguese founder BRCA2 mutation, we identified two (1,4%) individuals with germline BRCA1 rearrangements (c.547+240_5193+178del and c.4675+467_5075-990del) and three probands with the c.156_157insAlu founder BRCA2 rearrangement. Furthermore, two families with false positive MLPA results were shown to carry a deleterious point mutation at the probe binding site. This study comprises the largest Brazilian series of HBOC families tested for BRCA1 and BRCA2 rearrangements to date and includes patients from three regions of the country. The overall observed rearrangement frequency of 3.44% indicates that rearrangements are relatively uncommon in the admixed population of Brazil.

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Mendeley readers

The data shown below were compiled from readership statistics for 48 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 48 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 8 17%
Researcher 7 15%
Student > Postgraduate 5 10%
Student > Bachelor 4 8%
Student > Doctoral Student 3 6%
Other 6 13%
Unknown 15 31%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 12 25%
Agricultural and Biological Sciences 7 15%
Medicine and Dentistry 4 8%
Nursing and Health Professions 3 6%
Pharmacology, Toxicology and Pharmaceutical Science 1 2%
Other 3 6%
Unknown 18 38%