Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer
نویسندگان
چکیده
منابع مشابه
Multigene panel analysis identified germline mutations of DNA repair genes in breast and ovarian cancer
Approximately 5-10% of all breast and/or ovarian cancer cases are considered as inherited. BRCA1 and BRCA2 tumor suppressor genes account for a high penetrance of hereditary cases, but familial cases without mutations in these genes can also occur. Despite their low penetrance, other hereditary cancer-related genes are known to be associated with breast and ovarian cancer risk. However, the ext...
متن کاملMultigene Panel Testing for Hereditary Cancer Risk
Historically, an understanding of a patient and/or their family’s cancer risk and predisposition was based in large part on patient pedigree or family history, histology, and age at diagnosis. However, since the completion of the Human Genome Project, advances in technology have moved from pedigree to single-gene testing to multigene testing and next-generation sequencing. Advanced practitioner...
متن کاملPrevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer
Pathogenic germline BRCA1, BRCA2 (BRCA1/2), and several other gene variants predispose women to primary ovarian, fallopian tube, and peritoneal carcinoma (OC), although variant frequency and relevance information is scarce in Japanese women with OC. Using targeted panel sequencing, we screened 230 unselected Japanese women with OC from our hospital-based cohort for pathogenic germline variants ...
متن کاملClinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.
IMPORTANCE The practice of genetic testing for hereditary breast and/or ovarian cancer (HBOC) is rapidly evolving owing to the recent introduction of multigene panels. While these tests may identify 40% to 50% more individuals with hereditary cancer gene mutations than does testing for BRCA1/2 alone, whether finding such mutations will alter clinical management is unknown. OBJECTIVE To define...
متن کاملOptimizing the identification of risk‐relevant mutations by multigene panel testing in selected hereditary breast/ovarian cancer families
The introduction of multigene panel testing for hereditary breast/ovarian cancer screening has greatly improved efficiency, speed, and costs. However, its clinical utility is still debated, mostly due to the lack of conclusive evidences on the impact of newly discovered genetic variants on cancer risk and lack of evidence-based guidelines for the clinical management of their carriers. In this p...
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ژورنال
عنوان ژورنال: Cancers
سال: 2020
ISSN: 2072-6694
DOI: 10.3390/cancers12040956