GENETIC COUNSELING FOR A PATIENT WITH A BRCA1 MUTATION-ASSOCIATED BREAST CANCER: A CASE STUDY

Scris de Loredana PECA, Florina POP, Raluca-Ioana FARCAȘ on 21 Decembrie 2016. Postat în Număr special - Volumul XX, Nr 4

Authors

Loredana PECA^1,*, Florina POP², Raluca-Ioana FARCAȘ³

¹ Ingenuity Systems, Qiagen, Cluj-Napoca, Romania
² „Prof. Dr. Ion Chiricuţă” Oncology Institute, Cluj-Napoca, Romania
³ Romanian Cancer Society, Cluj-Napoca, Romania

ABSTRACT

Genetic counseling implies a myriad of ethical and psychosocial issues. The article uses a qualitative approach of a descriptive single-case study design. The aim of the study is to offer a glimpse of what a late post-test genetic counseling session for hereditary breast and ovarian cancer involves in a country with no genetic services integrated in the oncology care system and no legal and/or ethical framework for genetic testing and counseling. We report the case of a patient with a family history of breast cancer diagnosed with triple negative breast cancer at 30 years of age, while being pregnant. After pregnancy termination, she tested positive for a BRCA1 gene pathogenic mutation. Testing and result disclosure were performed with no pre-test and post-test genetic counseling. This is an illustrative case study of what a post-test genetic counseling session for hereditary breast and ovarian cancer involves.

KEYWORDS: genetic testing, genetic counseling, hereditary breast and ovarian cancer, Romania, BRCA1/2

PAGES: 259-281

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