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

2670 - Understanding BRCA1 and BRCA2 mutated breast cancer cases in Romania: first report on founder mutations in Romanians

Date

11 Sep 2017

Session

Poster display session

Presenters

Alexandru Eniu

Citation

Annals of Oncology (2017) 28 (suppl_5): v43-v67. 10.1093/annonc/mdx362

Authors

A. Eniu1, L. Pop2, A. Stoian1, E. Dronca2, R. Matei1, M. Ligtenberg3, H. Ouchene3, A. Onisim1, O. Rotaru1, R. Eniu4, N. Antone1

Author affiliations

  • 1 Department Of Breast Tumors, Cancer Institute Ion Chiricuta, 400015 - Cluj-Napoca/RO
  • 2 Research Center For Functional Genomics, Biomedicine And Translational Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, 400000 - Cluj-Napoca/RO
  • 3 Department Of Human Genetics, Radboud University Medical Centre, 6500 HB - Nijmegen/NL
  • 4 School Of Medicine, Cardiff University, Cardiff/GB
More

Resources

Abstract 2670

Background

First systematic analysis of BRCA 1(B1) or BRCA2(B2) mutations in high-risk Romanian breast cancer patients (pts) aiming at defining founder mutations.

Methods

This prospective study evaluated the germline B1/B2 mutations in 250 high-risk breast cancer pts tested between 02.2015-12.2016 at IOCN. Inclusion criteria selected pts diagnosed with triple negative breast cancer under the age of 50, or having conventional family history criteria. All pts signed an informed consent. B1/B2 testing was performed using an AmpliSeq-based sequencing analysis, on the Ion Torrent Personal Genome Machine at RCFG. Pathogenic mutations were validated using Sanger technology. MLPA was performed for all pts.

Results

Of the 250 pts with breast cancer, 44 (17.6%) carried pathogenic mutations, 29 pts (11.6%) in B1 and 15 (6%)in B2, while 18 patients (7.2%) carried a Variant of Uncertain Significance (VUS). Patient features analysis confirmed the prevalence of younger age, higher grade, hormone receptor negative and Her2 negative status among mutated patients (data not shown). Out of the 16 distinct deleterious mutations identified, 7 (43.75%) occurred in B1 and 9 (56.25%) in B2. The founder mutations identified in B1 gene were: c.5329_5330insC (c.5266dupC) 11 pts (37.93%), c.3607C>T 9 pts (31.03%) and c.181T>G 4 pts (13.79%). Other B1 mutations where c.1687C>T 2 pts (6.89%), and c.4218delG (3.44%), c.212 + 1G>T (3.44%), c.68_69delAG (3.44%) in one patient respectively. For B2 gene, c.9371A>T (46.66%) was identified as founder mutation (7 pts, 46.66%). Other mutations were found each in one patient (6.66%): c.1528G>T, c.4022C>G, c.7007G>A, c.8695C>T, c.9253delA, c.8680C>T, c.8755-1G>A, c.8695C>T. Of the founder mutations identified, two (c.3607C>T and c.9371A>T) have not been previously identified as founder mutations in any Eastern European country.

Conclusions

This prospective study presents the first extensive results of germline B1/B2 mutations in Romanian high-risk breast cancer pts. Our results indicate that at least four recurrent B1/B2 mutations qualify as founder mutations; two being newly identified as carrying a founder effect. ClinicalTrials.gov Identifier: NCT02317120.

Clinical trial identification

NCT02317120

Legal entity responsible for the study

Alexandru Eniu

Funding

AstraZeneca

Disclosure

A. Eniu: Research support: AstraZeneca, Roche, Novartis, Celltrion. All other 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
  • Necessary cookies enable core functionality. The website cannot function properly without these cookies, and you can only disable them by changing your browser preferences.