Sociedad Española de Anatomía Patológica y División Española de la International Academy of Pathology  XXV Congreso de la Sociedad Española de Anatomía Patológica
y División Española de la International Academy of Pathology
XX Congreso de la Sociedad Española de Citología
I Congreso de la Sociedad Española de Patología Forense
   Sociedad Española de Patología Forense
Zaragoza, 18 a 21 de mayo de 2011


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Comunicación oral nº 63. Tema: Patología mamaria

Mutational analysis of BRCA1 and BRCA2 in Extremadura in breast and ovarian cancer families
S Romero Chala (1), N Fernandez Gonzalez (1), JA Garcia Trujillo (1), EM Martinez Quintana (1), S Gonzalez Santiago (1), JM Mateos Rodriguez (1), C Dueñas Sadornil (1), C Camara Hijon (1), M Duran (2), LF Pereira (1)
(1) Hospital San Pedro de Alcántara, (2) IBGM

Introducción:3 years ago, a Hereditary Cancer Laboratory was developed in Extremadura together with a Unit of Genetic Counselling. Here we show the first prevalence data of BRCA mutations in high risk families in our region.

Material y métodos:We have screened germline mutations in 228 families from Extremadura. The cases were selected because they had a family history of breast and/or ovarian cancer, following the SEOM criteria. The genetic study of BRCA1 y BRCA2 was performed by multiplex PCR with different fluorescent labels followed by heteroduplex analysis by capillary array electrophoresis. Only the fragments which showed an altered pattern were direct sequenced using Big Dye Terminator Sequencing Kit v3.1 without labelled primers.

Resultados:We have found 20 different pathogenic mutations in 21 families. Two out of them had the Galician mutation (c.330A>G), that is a recurrent mutation in the Spanish population. Both had known Galician ancestors. 5 of which mutations had not been previously described in any other population. In 4 of them the predicted effect generates a premature codon stop, and produces a truncated BRCA1 protein. One mutation induced anomalous splincing pattern. Taken together 10 out of 21 families had a BRCA1 mutation and 11 a BRCA2 mutation. We have studied 59 relatives of the affected families and we found 39 carriers of the mutations. Furthermore, we have identified 35 VSI, 12 out of them haven’t been reported until now.

Conclusión:We have found only a 9.2% of pathogenic mutations in BRCA genes in high risk families. The reason of this low proportion regarded other studies could be the wide diffusion of the creation of a Unit of Genetic Counselling and a pull effect . Previously only 3 families were sent to study in other Spanish laboratories. Probably more restricted criteria are needed. The study of the new mutation found could be useful and open the spectrum of BRCA1 mutations.

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Actualizado: 11/06/2011