Age-dependent penetrance of different germline mutations in the BRCA1 gene

@article{AlMulla2009AgedependentPO,
  title={Age-dependent penetrance of different germline mutations in the BRCA1 gene},
  author={Fahd R Al-Mulla and J Martin Bland and D Serratt and Jonathan L Miller and Catherine Chu and Gordon T. Taylor},
  journal={Journal of Clinical Pathology},
  year={2009},
  volume={62},
  pages={350 - 356}
}
AIMS BRCA1 gene mutations have been extensively studied in relation to breast and ovarian cancer susceptibility. Various genotype-phenotype correlation attempts have yielded important data pertaining to the consequences of BRCA1 mutations. However, little is known about the effects of recurrent BRCA mutations on expressivity and the age of onset of cancer in a population. This study addresses whether different exon mutations have variable expressivity especially in relation to the age of onset… CONTINUE READING