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Poster Display session 3

3212 - Multigene panel testing results for hereditary breast cancer in 1325 individuals: implications for gene selection and considerations for guidelines.


30 Sep 2019


Poster Display session 3


Translational Research

Tumour Site

Breast Cancer


Georgios Tsaousis


Annals of Oncology (2019) 30 (suppl_5): v25-v54. 10.1093/annonc/mdz239


G.N. Tsaousis1, N. Tsoulos2, E. Papadopoulou2, K. Agiannitopoulos2, G. Pepe2, N. Diamantopoulos3, T.I. Floros4, R. Iosifidou5, C. Markopoulos6, K. Papazisis7, V. Venizelos8, G. Xepapadakis9, E. Banu10, D.T. Eniu11, D.L. Stanculeanu12, A. Ungureanu13, S. Tansan14, M. Tekinel15, S. Yalcin16, G. Nasioulas17

Author affiliations

  • 1 Bioinformatics, Genekor Medical SA, 15344 - Athens, Gerakas/GR
  • 2 Molecular Oncology And Molecular Genetics, Genekor Medical SA, 15344 - Athens, Gerakas/GR
  • 3 Surgery Dept, Theagenio Anticancer Hospital, 546 39 - Thessaloniki/GR
  • 4 Oncology, Naval and Veterans Hospital of Athens, 115 21 - Athens/GR
  • 5 Breast Cancer Surgical Unit, Theagenio Anticancer Hospital, 546 39 - Thessaloniki/GR
  • 6 Breast Unit, Athens Medical Center, Athens, Greece, 115 21 - Athens/GR
  • 7 Oncology Dept, Euromedica General Clinic, 546 45 - Thessaloniki/GR
  • 8 Breast Unit, Metropolitan Hospital, 18547 - Athens/GR
  • 9 Breast Clinic, IASO, General Maternity and Gynecology Clinic, 151 23 - Athens/GR
  • 10 Medical Oncology Department, Spitalul Sfantul Constantin Brasov, 500091 - Brasov/RO
  • 11 Oncologic Surgery And Gynecologic Oncology, Institutul Oncologic Prof. Dr. I. Chiricuta, 400015 - Cluj/RO
  • 12 Medical Oncology, National Institute of Oncology A.Treistioreanu, 022328 - Bucharest/RO
  • 13 Radiotherapy, Amethyst Radiotherapy, 400058 - Cluj-Napoca/RO
  • 14 Oncology, Tansan Oncology, 80200 - Instabul/TR
  • 15 Surgery, Private Practice, 34394 - Fulya Sisli/TR
  • 16 Department Of Medical Oncology, Hacettepe University Faculty of Medicine, 06100 - Ankara/TR
  • 17 Clinical Genetics, Genekor Medical SA, 15344 - Athens, Gerakas/GR


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Abstract 3212


The application of the Next Generation Sequencing (NGS) technology has facilitated multigene panel testing for hereditary breast cancer (BC) in clinical practice. We performed a retrospective analysis of individuals referred for testing in our lab aiming to investigate the contribution of included genes and evaluate current genetic testing guidelines in BC.


In total, 1141 BC patients and 184 unaffected individuals with family history (FH) of BC were referred from physicians for testing using a multigene panel. Genomic DNA was enriched for targeted regions of 33 genes and sequencing was carried out using the Illumina NGS technology. The presence of large genomic rearrangements (LGRs) was investigated computationally and by Multiplex Ligation-dependent Probe Amplification (MLPA).


A pathogenic variant (PV) was identified in 22% (291/1325) of analyzed individuals and in specific in 23.2% of BC patients and 14.1% of unaffected individuals (P = 0.006). Among individuals with PVs, 49.1% were located in the BRCA1/2 genes whereas 8.6%, 22.7% and 19.6% occurred in other high, moderate and low-risk genes respectively. Notably, 21 of the 291 positive individuals (7.2%) carried clinically significant variants in two different genes and 6.5% had a LGR. A retrospective analysis of positive individuals showed that 88.3% of BC patients met the NCCN criteria for further genetic risk evaluation compared to 80.8% of unaffected individuals with FH of BC (P = 0.269). In BRCA-positive cases, NCCN criteria were met in 92.3% of the referrals compared to 81.8% in individuals positive for other genes (P = 0.008).


Extended multigene panel testing in hereditary BC facilitates the detection of nearly twice as many individuals that could benefit from personalized management. In our cohort, the currently used selection criteria for HBOC failed to identify only 12.7% of individuals positive for pathogenic variants, suggesting strong selection strategies from physicians. However, our results indicate that selection criteria perform better for the identification of BRCA-positive BC patients and should be revised to facilitate towards the inclusion of BC patients with PVs in other genes.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

The authors.


Has not received any funding.


All authors have declared no conflicts of interest.

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