In:
Journal of Clinical Oncology, American Society of Clinical Oncology (ASCO), Vol. 41, No. 16_suppl ( 2023-06-01), p. e18636-e18636
Kurzfassung:
e18636 Background: The majority of hereditary breast and ovarian cancers are linked to BRCA1/2 mutations. However, in patients with a suggestive personal or family history, a specific predisposing gene is identified in 〈 30% of cases. Mutation testing is recommended for individual genes in the appropriate clinical setting with a high suspicion index for a specific mutated gene. The risk of contralateral breast cancer increases with the time since the first breast cancer, reaching 20%–30% at ten years of follow-up and 40%–50% at 20 years, depending on the gene involved. Methods: The study assessed the prevalence of BRCA testing among young breast cancer women (age less than 50 years) and explored the factors hindering the performance of the BRCA mutation test. Among the 3400 breast cancers reported from 2017 to 2022, 46.17% (n = 1570) of young breast cancer women were advised for BRCA testing. We administered the questionnaire on factors influencing the BRCA mutation profiling performance to all the young breast cancer women (n = 1532). The data was collected from the electronic medical records and the department of molecular oncology. We performed regression analysis to predict the act of BRCA mutation profile testing. Results: Among them (n = 1570), only 17.70% (n = 278) performed BRCA1/2 genetic testing. In 278 patients who had undergone BRCA testing, pathogenic or likely pathogenic BRCA1/2/HRR mutations were detected in 52 patients (18.7%). 38 (13.7%) with BRCA 1, 14(5%) with BRCA2. Somatic with HRR testing was done in 13(4.6%), Somatic testing in 37(13.3%) and germline testing was done in 228 (82%). BRCA mutation was detected in 18 (34.6%) patients with breast cancer, 32(61.5%) patients with ovarian cancer. The factors influencing not performing the BRCA testing were the higher Cost of the test (83.4%), delay in getting the result (32.4%), unawareness of the importance of the test (52.6%), and not being advised by the physician as a mandatory test to perform (47.6%) and male spouse as a decision maker (31.8%). Conclusions: BRCA mutation profile test is mandatory to know their recurrence risk and treatment decisions for opting for PARP inhibitor. But the Cost of the test is the main barrier to performing this in a low-middle-income country setting. Female gender and related decision-making conflict could be the other reasons not to perform the test.
Materialart:
Online-Ressource
ISSN:
0732-183X
,
1527-7755
DOI:
10.1200/JCO.2023.41.16_suppl.e18636
Sprache:
Englisch
Verlag:
American Society of Clinical Oncology (ASCO)
Publikationsdatum:
2023
ZDB Id:
2005181-5
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