Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity

@article{Pinto2016ImplementationON,
  title={Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity},
  author={Pedro Pinto and Paula Paulo and Catarina Santos and Patr{\'i}cia de Medeiros Cardassi Rocha and Carla Pinto and Isabel Veiga and Manuela Pinheiro and Ana L{\'u}cia Peixoto and Manuel R. Teixeira},
  journal={Breast Cancer Research and Treatment},
  year={2016},
  volume={159},
  pages={245-256}
}
Molecular diagnosis of hereditary breast and ovarian cancer (HBOC) by standard methodologies has been limited to the BRCA1 and BRCA2 genes. With the recent development of new sequencing methodologies, the speed and efficiency of DNA testing have dramatically improved. The aim of this work was to validate the use of next-generation sequencing (NGS) for the detection of BRCA1/BRCA2 point mutations in a diagnostic setting and to study the role of other genes associated with HBOC in Portuguese… CONTINUE READING