Hereditary Breast and Ovarian Cancer in Romania. Genetic Testing and Counselling Challenges in a Eastern European low-middle Income Country

Catana Andreea1,2, Achimas Cadariu Patriciu1,2, Bolba Morar Gabriela1, Ilies Roxana Flavia2, Militaru Sanda Mariela2

1IOCN I.Chiricuta Cluj Romania, Cluj Napoca, Romania. 2UMF Iuliu Hatieganu Cluj, Cluj Napoca, Romania

Abstract

Objectives

Although a member of EU, Romania is among the few countries that has no Governmental screening and diagnostic programme for HBOC (Hereditary Breast and Ovarian Cancer), therefore the identification of women with HBOC and their proper genetic counselling presents an important public health challenge.

Methods

We present a retrospective sudy including 230 patients diagnosed with Breast and Ovarian cancer and HBOC clinical criteria within the Oncogenetics Ambulatory of the Oncology Institute Cluj, between 2017-2019. Of these, 203 were eligible for specific molecular testing but due to financial impediment, only 128 patients had been tested using specific NGS/MLPA BRCA1 and BRCA2 or/and Multigene Panel Testing for Hereditary Cancer Syndromes.

Results

Out of all eligible patients, only 128 underwent molecular testing and 68 patients were found positive for HBOC related pathogenic mutations. Most mutations were found in BRCA1 and BRCA2 genes, but we also identified pathogenic mutations in PALB2, TP53, ATM and CHEK2 genes. All positive tested patients and relatives received proper genetic counselling and followed conservative or invasive prophylactic measures.

Conclusions

HBOC genetic testing has a major impact for both patient and relatives and leads to life saving cancer prevention and risk reduction possibilities, therefore molecular testing options should be available and affordable for all eligible individuals.

Top