Chequeo de mutaciones en el gen BRCA1 en mujeres con cáncer de mama familiar y esporádico precoz, de la Comunidad Autónoma Vasca.

Article information

Resumen

El cáncer de mama hereditario supone un 5-10% del total de cánceres de mama. Hace más de dos años iniciamos el estudio del gen BRCA1 en pacientes con cáncer de mama familiar y esporádico precoz en nuestra Comunidad Autónoma.

El objetivo de este estudio es averiguar las mutaciones del gen BRCA1 en nuestra población, así como determinar si la alta incidencia de este cáncer se debe a factores hereditarios.

Pacientes y métodos

149 pacientes con cáncer de mama esporádico precoz (40 años) y familiar (50 años). Se estudiaron los 21 exones codificantes del gen BRCA1, por medio de PCR, CSGE y secuenciación.

Resultados

Se han encontrado nueve mutaciones: dos de estas mutaciones no producen cambio de aminoácido, otra se sitúa en el intron 20, lo que en principio no debería afectar al procesamiento de la proteína, y las otras seis son mutaciones “missence”.

Conclusiones

Estos primeros resultados muestran un 6.04% de mutación porcentaje similar a otros reportados.

Palabras clave:

BRCA1

cáncer de mama

cáncer de ovario

población vasca

CSGE

Summary

Familial breast cancer represents 5 to 10% of the total of breast cancer. Three years ago, we undertook the study of the BRCA1 gene in females with early breast cancer and with familial breast cancer in our Autonomous Community.

The Objetives of this study were first to find out what kind of BRCA1 mutations exist in our population, and second to determine if the high prevalence of this cancer in The Barque Population could be due to these mutations.

Patients and methods

149 patients with early breast cancer (40 years) and with familial cancer (50 years) were studied. The 21 ancoding BRCA1 exons were studied by PCR, CSGE and sequencing.

Results

Nine mutations were found: two of them don't produce an amino acid change, a third one lies in the 20 intron and consequently, it shouldn't aggect the protein processing, and six mutations were missence mutations.

Conclusions

These preliminary results show a 6.04% frequency of mutations in our Community, which is similar to that reported by other authors.

Key words:

BRCA1

Breast cancer

ovarian cancer

Basque population

CSGE

Laburpena

Herentziazko ugatz-minbizia mota honetako minbizi guztien %5-10 da. Duela bi urte baino gehiago BRCA1 genea aztertzen hasi ginen familiako eta noizbehinkako ugatz-minbizi goiztiarra zuten gaixoengan, gure Autonomia Erkidegoan.

Helburua BRCA1 geneak gure herritarren artean zein mutazio dituen jakitea da, baita minbizi mota honen eragin handia herentziazko faktoreei zor zaien ere.

Gaixoak eta metodoak

noizbehinkako ugatz-minbizi goiztiarra duten 149 gaixo (40 urte) eta familiakoa (50 urte). BRCA1 genearen 21 exon kodifikatzaileak aztertu ziren, PCR, CSGE eta sekuentziazio bidez.

Emaitzak

Bederatzi mutazio aurkitu dira: mutazio horietako bik ez dute aminoazido-aldaketarik eragiten; beste bat 20 intronean kokatzen da, lehen batean proteinaren prozesatzean eraginik izan behar ez lukeena, eta beste seiak “missence” mutazioak dira.

Ondorioak

Lehen emaitza horiek %6,04ko mutazioa agertzen dute, beste kasu batzuen antzeko ehunekoa.

Hitz giltzarriak:

BRCA1

ugatz-minbizia

obario-minbizia

euskal herritarrak

CSGE

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