Abstract
BackgroundBreast cancer screening programs seem to be an insufficient tool for women at high genetic risk for breast cancer. These women are not adequately monitored yet. Genetic testing may improve clearly the quality of breast cancer prevention programs. At present, blood samples are favored for obtaining high-quality DNA; however, DNA can also be obtained by collecting saliva. The aim of this study was, on the one hand, to determine whether saliva sampling is a practicable means to obtain sufficient quantity and quality of DNA and, on the other hand, whether it is accepted by patients throughout mammographic diagnostics.Methods67 consecutive women with diagnostic need for mammography with or without a family history for breast cancer were asked for their basic willingness to undergo a genetic testing by saliva sample in addition to standard diagnostics. Saliva samples were analyzed in terms of DNA quantity and quality.Results64 (95.6%) women agreed to provide a saliva sample; 3 of them denied participation. And even 63 out of 64 (98.4%) were interested in their specific results. 45 out of 64 samples contained a DNA concentration above 50 ng/µl, 12 samples were between 25 and 50 ng/µl and only 7 of them were under 25 ng/µl with the standard extraction procedure.ConclusionA high number of patients seem to accept salvia samples as a risk assessment tool in breast diagnostics and are interested in their specific risk situation. At the same time, it could be demonstrated that it is an effective way to provide high-quality DNA for breast cancer gene analysis. However, it remains to be shown whether it would be possible to integrate it with the same acceptance in a nationwide breast cancer screening program.
Highlights
Breast cancer screening programs seem to be an insufficient tool for women at high genetic risk for breast cancer
The mean term starting menopause was 48.3 ± 5.9 years. 4 out of 64 (6.3%) participants currently used hormonal replacement therapies. 8 out of 64 (12.5%) women had a history of former breast biopsy, either core or surgical biopsy. 29 out of 65 (44.6%) interviewed persons stated a family history of breast cancer (BC) or ovarian cancer (OC)
The average number of affected family members was 1.3 ± 0.6, ranging 1–3. 25 women were from families in which only one female member had BC or OC. 5 women came from families with two affected members
Summary
Breast cancer screening programs seem to be an insufficient tool for women at high genetic risk for breast cancer. These women are not adequately monitored yet. Genetic testing may improve clearly the quality of breast cancer prevention programs. It is well known that 20% of hereditary BC is caused by defects in the high penetrance genes BRCA1 [6], BRCA2 [7,8,9], and Poehls et al Eur J Med Res (2018) 23:20. Validated common genetic variations have been summarized in risk prediction models and offer a first possibility to assess the feasibility within early detection and screening programs [23]. First models have been developed to integrate mammographic density, which is an important risk factor for BC [24, 25] and influences sensitivity and specificity of mammography [26, 27], into risk prediction with genetic variants [28]
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