Background: In 2018, BRACAnalysis® was covered by medical insurance in Japan as a companion diagnostic test for the poly ADP-ribose polymerase inhibitor olaparib. In April 2020, eligibility for BRCA1/2 genetic testing was expanded to the diagnosis of hereditary breast and ovarian cancer syndrome, and medical management including prophylactic surgery and surveillance were covered by public insurance for BRCA1/2 mutation carriers who developed breast or ovarian cancer. The amount of BRCA1/2 genetic testing has been increasing recently, but the number of subjects and the impact of testing for patients' outcomes remain unclear.
Patients And Methods: This study explored the potential number of patients who will be eligible for new insurance coverage for BRCA1/2 genetic testing. We analyzed 868 patients from 938 surgeries between January 2014 and September 2020 from our database.
Results: Overall, 372 patients (43%) were eligible for new insurance coverage for BRCA1/2 genetic testing. The most common category was family history of breast or ovarian cancer within third-degree relatives. We found that 202 patients (23%) had family history of breast or ovarian cancer. In addition, the progression-free survival was significantly lower in triple-negative breast cancer patients aged 60 years or younger compared with the other patients (P = 0.0005).
Conclusion: The genetic medicine for primary breast cancer patients with BRCA1/2 germline mutation is accelerating rapidly in Japan. Therefore, establishing a system for the genetic medicine would be urgent.
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http://dx.doi.org/10.1007/s12282-022-01342-4 | DOI Listing |
Genet Med Open
September 2024
Gender in Medicine, Charité-Universitätsmedizin Berlin, Germany Corporate Member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
Purpose: We developed the online-based counseling tool iKNOW for women with a pathogenic germline variant in to improve risk understanding and quality of life.
Methods: With a randomized controlled trial, we investigated the efficacy of iKNOW with regard to risk understanding (primary endpoint), quality of life, risk perception, and anxiety (secondary endpoints). Self-report questionnaires were administered to = 217 women with a pathogenic variant in before counseling (T0), immediately after (T1), 4 weeks after (T2), and 6 months after (T3).
Future Oncol
December 2024
Department of Medical Oncology, BC Cancer Agency, Vancouver, Canada.
Metastatic prostate cancer remains incurable. Though significant progress has been made in the field, the search for agents that improve outcomes for patients is ongoing. Several clinical trials have explored the benefit of combining PARP inhibitors (PARPi) with androgen receptor pathway inhibitors (ARPIs) for metastatic castrate resistant prostate cancer (mCRPC), especially those cancers with alterations in homologous recombination repair (HRR) genes.
View Article and Find Full Text PDFBMC Cancer
December 2024
Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Background: There is increasing interest in enhancing the response of the PARP inhibitor olaparib, which is currently approved for pancreatic ductal adenocarcinoma (PDAC) patients with defects in DNA damage repair associated with germline BRCA1/2 mutations. Moreover, agents that can mimic these defects in the absence of germline BRCA1/2 mutations are an area of active research in hopes of increasing the number of patients eligible for treatment with PARP inhibitors. The extent to which regorafenib, an FDA-approved tyrosine kinase inhibitor, can be used to enhance the efficacy of PARP inhibitors in PDAC cells without known BRCA1/2 mutations remains to be investigated.
View Article and Find Full Text PDFNPJ Precis Oncol
December 2024
Institute of Systems, Molecular and Integrative Biology, Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, UK.
Understanding the genomic landscape of breast cancer brain metastases (BCBMs) is key to developing targeted treatments. In this study, targetable genomic profiling was performed on 822 BCBMs, 11,988 local breast cancer (BC) biopsies and 15,516 non-central nervous system (N-CNS) metastases (all unpaired samples) collected during the course of routine clinical care by Foundation Medicine Inc (Boston, MA). Clinically relevant genomic alterations were significantly enriched in BCBMs compared to local BCs and N-CNS metastases.
View Article and Find Full Text PDFBreast Cancer Res Treat
December 2024
Centro Nacional de Genética Médica, ANLIS ''Dr Carlos G Malbrán'', Ministerio de Salud de La Nación, Buenos Aires, Argentina.
Purpose: Among women in Argentina, the most common cancer is breast cancer (BC) with 21,631 new cases and 6436 deaths per year. The ovarian cancer (OC) is fifteenth in frequency. The contribution of cancer-related large genomic rearrangements (LGRs) of the BRCA1/BRCA2 genes and the 1100delC allelic variant in the CHEK2 gene has not yet been widely studied in our population.
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