Oops, you're using an old version of your browser so some of the features on this page may not be displaying properly.

MINIMAL Requirements: Google Chrome 24+Mozilla Firefox 20+Internet Explorer 11Opera 15–18Apple Safari 7SeaMonkey 2.15-2.23

Poster display session: Basic science, Endocrine tumours, Gastrointestinal tumours - colorectal & non-colorectal, Head and neck cancer (excluding thyroid), Melanoma and other skin tumours, Neuroendocrine tumours, Thyroid cancer, Tumour biology & pathology

1159 - Molecular characterization and search for founding effects in Canarian families with Hereditary Breast and Ovarian Cancer Syndrome

Date

21 Oct 2018

Session

Poster display session: Basic science, Endocrine tumours, Gastrointestinal tumours - colorectal & non-colorectal, Head and neck cancer (excluding thyroid), Melanoma and other skin tumours, Neuroendocrine tumours, Thyroid cancer, Tumour biology & pathology

Presenters

Elisenda Llabres Valenti

Citation

Annals of Oncology (2018) 29 (suppl_8): viii1-viii13. 10.1093/annonc/mdy268

Authors

E. Llabres Valenti1, A.M. Sanchez de Abajo2, J. Brenes Castro1, A. Ramchandani Vaswani1, A. Gómez de Liaño1, A. Hernández1, M. Cejuela1, J.A. Rodriguez Garcia1, E. González1, E. Vicente1

Author affiliations

  • 1 Medical Oncology, Hospital Universitario Insular de Gran Canaria, 35016 - Las Palmas/ES
  • 2 Biochemistry, Hospital Universitario Insular de Gran Canaria, 35016 - Las Palmas/ES
More

Resources

Abstract 1159

Background

The Hereditary Breast and Ovarian Cancer Syndrome (HBOC) is an autosomal dominant disease caused by germline mutations in BRCA1 (17q21) and BRCA2 (13q12) genes. The identification of BRCA1/2 genes has represented a great advance in the management of families with HBOC allowing carriers to follow up personalized and early detection of tumors at a very early stage.

Methods

Descriptive study of the Canarian families with mutation in BRCA1/2, analyzing clinical, anatomopathological and resulting parameters of the genetic analysis. The screening of point mutations was performed in all exons encoders and adjacent intron sequences by HRM (High Resolution Melting) and subsequent characterization of the patterns altered by sequencing direct. The study of large genomic rearrangements was carried out by MLPA (Multiplex Ligation-dependent Probe Amplification).

Results

Of the 611 families evaluated in the hereditary cancer clinic, 385 have genetic test completed. 55 families have been identified with a pathogenic mutation (14.2%); 36 different mutations (19 in BRCA1 (32 families) and 17 in BRCA2 (23 families). The spectrum of pathogenic mutations identified in the BRCA1 gene suggested strong founder effects on the island of Gran Canaria, where we have detected a recurrent mutation [c.3582-3589del8] (p.His1195PhefsTer21)] that explains more than 70% of families with mutation in BRCA1.

Conclusions

The percentage of pathogenic mutations in Canary HBOC families was 14.2%, similar to that detected in other populations. However, our data showed the presence of a founding mutation which explains more than 70% of our families in Gran Canaria with mutation in BRCA1, which could help us to optimize the algorithms for the study of mutations in these genes.

Clinical trial identification

Legal entity responsible for the study

Elisenda Llabrés Valentí.

Funding

Has not received any funding.

Editorial Acknowledgement

Disclosure

All authors have declared no conflicts of interest.

This site uses cookies. Some of these cookies are essential, while others help us improve your experience by providing insights into how the site is being used.

For more detailed information on the cookies we use, please check our Privacy Policy.

Customise settings