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- Title
Predsimptomatsko genetsko testiranje za dedni sindrom raka dojk in/ali jajčnikov.
- Authors
Barbara, Babuder; Simona, Hotujec; Ana, Blatnik; Ksenija, Strojnik; Marta, Banjac; Srdjan, Novaković; Mateja, Krajc
- Abstract
Starting point: Cascade testing is the testing of relatives of the first proven carrier of a pathogenic variant / probable pathogenic variant (PR / VPR) of a particular gene in a family. The success of cancer prevention in a particular family where a PR / VPR is detected depends on the identification of those blood relatives, who are also carriers of the familial variant but have not yet developed cancer. The number of blood relatives from families with hereditary breast and / or ovarian cancer syndrome (HBOC), who decide to undergo presymptomatic counselling and testing for a newly discovered PR / VPR in their family at the Institute of Oncology Ljubljana (OIL), is currently unknown. Aim: The aim of the study was to determine the number of blood relatives who opted for presymptomatic testing when a PR / VPR was detected in BRCA1 and / or BRCA2 genes in the family and to analyse their characteristics. Methods: We analysed data on patients and their family members obtained from the database of the Cancer Genetics Clinic at the OIL, who underwent testing between 1999 and 2020. We used descriptive statistical methods. Results: Among 5158 referred families tested for HBOC, 785 carriers of BRCA1 and BRCA2 were detected, representing 15.2%. In 27% of 785 positive families (212/785) no family members opted for cascade testing to date. In the families where relatives decided to consult our cancer genetics clinic (573 families), 79% of them came within the first twelve months from the disclosure of a positive result to the index case. In these 573 families, a total of 1731 people opted for presymptomatic testing, of which 80.3% were women. The average number of blood relatives, who opted for presymptomatic counseling and testing between 1999 and 2020 is 2.21 per family (index case excluded). If we exclude families in which none of the relatives came for an assessment, an average of 3.02 relatives per family opted for cascade testing. Conclusion: Cascade testing is a good way to identify PR / VPR carriers in the family and in the population. At present, it is practically the only way to identify healthy at-risk individuals and offer them prevention and early detection of cancer, which have been proven to prolong lives. Thus, all blood relatives should be able to choose preventive measures when there is a proven cancer predisposition in the family. In the future, we have to investigate why almost one third of positive families opt out of cascade testing and how we may further improve clinical pathways to increase the genetic testing/counselling uptake.
- Subjects
BREAST tumor prevention; OVARIAN tumors; BRCA genes; GENETIC testing; EARLY detection of cancer; RISK assessment; DESCRIPTIVE statistics; GENETIC counseling; BREAST tumors
- Publication
Onkologija, 2021, Vol 25, Issue 2, p16
- ISSN
1408-1741
- Publication type
Article
- DOI
10.25670/oi2021-013on