|Título||BRCA1 and BRCA2 rearrahgements in brazilian individuals with hereditary breast and ovarian cancer syndrome
Ewald, Ingrid Petroni
Cossio, Silvia Liliana
Palmero, Edenir Inêz
Nascimento, Ivana Lucia de Oliveira
Machado, Taisa Manuela Bonfim
Sandes, Kiyoko Abé
Ribeiro, Patrícia Lisbôa Izetti
Pereira, Maria Luiza Saraiva
Vargas, Fernando Regla
Moreira, Miguel Angelo Martins
Teixeira, Manuel R.
Prolla, Patrícia Ashton
|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 forBRCA 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.
|Contido em||Genetics and molecular biology. Ribeirão Preto, SP. Vol. 39, no. 2 (Jun. 2016), p. 223-231
Neoplasias da mama
[en] BRCA gene.
[en] Breast cancer
[en] Gene rearrangements
[en] Hereditary breast and ovarian cancer syndrome
|Tipo||Artigo de periódico
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