Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer

Stoll, Susanna; Unger, Sheila; Azzarello-Burri, Silvia; Chappuis, Pierre O.; Graffeo, Rossella; Pichert, Gabriella; Röthlisberger, Benno; Taban, F.; Riniker, Salomé

doi:10.4414/smw.2021.w30038

Cited by 7 publications

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“…The indication for test followed national (SAKK) [ 14 ] and international guidelines (NCCN) [ 11 ] and the costs were covered by the medical insurance and complying with the Swiss law.…”

Section: Methodsmentioning

confidence: 99%

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Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study

et al. 2023

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Background and purpose Over the last decade, the implementation of multigene panels for hereditary tumor syndrome has increased at our institution (Inselspital, University Hospital Berne, Switzerland). The aim of this study was to determine the prevalence of variants of unknown significance (VUS) in patients with suspected Lynch syndrome and suspected hereditary breast and ovarian cancer syndrome, the latter in connection with the trend toward ordering larger gene panels. Results Retrospectively collected data from 1057 patients at our institution showed at least one VUS in 126 different cases (11.9%). In patients undergoing genetic testing for BRCA1/2, the prevalence of VUS was 6%. When < 10 additional genes were tested in addition to BRCA1/2, the prevalence increased to 13.8%, and 31.8% for > 10 additional genes, respectively. The gene most frequently affected with a VUS was ATM. 6% of our patients who were tested for Lynch syndrome had a VUS result in either MLH1, MSH2 or MSH6. Conclusions Our data demonstrate that panel testing statistically significantly increases VUS rates due to variants in non-BRCA genes. Good genetic counseling before and after obtaining results is therefore particularly important when conducting multigene panels to minimize patient uncertainty due to VUS results.

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“…The indication for test followed national (SAKK) [ 14 ] and international guidelines (NCCN) [ 11 ] and the costs were covered by the medical insurance and complying with the Swiss law.…”

Section: Methodsmentioning

confidence: 99%

“…In addition to the NCCN guidelines, the following guidelines for genetic testing and counseling are valid in Switzerland and are used in our population: the SAKK Swiss guidelines [ 13 , 14 ] for breast and ovarian cancer and the PREMM5 Model [ 15 ] for Lynch Syndrome.…”

Section: Introductionmentioning

confidence: 99%

Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study

et al. 2023

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“…National Cancer Center Hospital (2021). National cancer center cancer information service site for medical professionals.…”

Section: Acknowledgmentsmentioning

confidence: 99%

Access, autonomy, and affordability: ethical and human rights issues surrounding multigene panel testing for cancer in Japan and Switzerland

Nakasato,

Manz,

Kato

2024

Front. Genet.

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Introduction: Advancements in precision medicine and genomics have led to prospects in a wide range of clinical fields, including oncology. In particular, developments in next-generation sequencing multigene panel tests have led to the possibility of tailoring treatment to the specific genomic markers of a patient’s cancer. However, findings from current literature suggest that the path to implementation and uptake of genomic medicine is not without uncertainties and challenges.Methods: To better understand the current challenges to the implementation of genomic medicine services, we investigated the current state of patient access to genomic medicine in Japan and Switzerland. In this investigation, we focused on equal access, patient autonomy, and healthcare affordability.Results: Results have shown that although multigene panel testing is in principle covered by health insurance in both countries, barriers exist in terms of where the tests are available, comprehensive information for patients, and the affordability of not only the test itself but the overall process from diagnosis to treatment.Discussion: These results suggest a need to continue examining a more diverse range of clinical landscapes for genomic medicine to reveal more nuanced understandings of barriers to implementation and thus better identify best practices for overcoming them.

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“…38 Many international, national and local guidelines for genetic testing for HBOC syndrome are available. 36,37,[39][40][41][42][43][44][45][46][47][48] Significant inter-guideline heterogeneity in relation to thresholds for genetic testing and treatment recommendations exists. For example, despite positive outcomes with olaparib in the OlympiA trial, only five guidelines recommend genetic testing today to help decision-making for targeted therapy with PARPi agents in HER2-negative BC (Table 2).…”

Section: Guidelines and Recommendations For Gbrca1/2 Testing And Trea...mentioning

confidence: 99%

Routine Genetic Testing of Germline Breast Cancer Susceptibility ─ Challenges and Opportunities

2023

healthbook TIMES Onco Hema

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Information on germline BRCA (gBRCA) 1/2 pathogenic or likely pathogenic mutations has predictive value for response to platinating agents and poly(ADPribose) polymerase inhibitors (PARPi) and survival outcomes of breast cancer (BC) patients. In the OlympiA trial, the benefits of adjuvant olaparib for highrisk patients with human epidermal growth factor receptor 2 (HER2)-negative BC and gBRCA mutations were demonstrated. These results highlight that, in addition to establishing BC risk, determining gBRCA1/2 status has a broader role in treatment decision-making, particularly for BC patients who may benefit from PARPi. Notably, olaparib is the only PARPi currently approved in Switzerland for treating early high-risk BC patients with gBRCA1/2 mutations. Rates of germline genetic testing in people with and without cancer are suboptimal in Switzerland and worldwide. Nowadays, despite the favorable OlympiA results, testing criteria for BC remain mostly restricted to patients fulfilling certain high-risk criteria for being mutation carriers, and few studies describe BRCA testing in BC patients with characteristics excluded in the OlympiA trial. Many unsolved questions remain, such as the number of patients who could potentially benefit from PARPi, whether to use treatment decision as a testing criterion for screening, and whether universal genetic testing for all BC patients is warranted. This review provides an overview of the rationale for targeting BRCA1/2. In addition, unmet needs and opportunities for testing BRCA1/2 status are discussed, and differences in the testing criteria in existing guidelines are summarized.

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Update Swiss guideline for counselling and testing for predisposition to breast, ovarian, pancreatic and prostate cancer

Cited by 7 publications

References 0 publications

Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study

Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study

Access, autonomy, and affordability: ethical and human rights issues surrounding multigene panel testing for cancer in Japan and Switzerland

Routine Genetic Testing of Germline Breast Cancer Susceptibility ─ Challenges and Opportunities

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