Broad Application of Multigene Panel Testing for Breast Cancer Susceptibility—Pandora’s Box Is Opening Wider. 1 Breast Cancer Medicine and Clinical Genetics, Memorial Sloan Kettering Cancer Center, New York, New York. We tested 1105 individuals using a 29-gene next-generation sequencing panel … Genetic testing later in the care process means the results aren’t being used to help make surgery decisions. There were 477 triple-negative breast cancer patients identified; 331 met established criteria for genetic testing and 226 (68.3%) underwent genetic testing (multigene panel, n = 130 and BRCA1/2 testing, n = 96). Results. MGPT allows for timely sequencing of multiple cancer susceptibility genes, is cost effective (1, 2), and leads to incremental genetic findings ().However, challenges remain to using MGPT for cancer risk assessment, including the … CancerNext is a comprehensive 36-gene panel that identifies inherited risks for at least 8 types of cancers. One vial of blood can shed light on a spectrum of predisposition and risk. Numerous genetic mutations are linked to increased risk for breast cancer. Genetic testing can identify these mutations and guide patient management decisions. All of them received risk-appropriate genetic counseling and follow-up. Multigene panel testing for inherited cancer risk assessment is being rapidly integrated as a new approach to genetic testing. Desmond A, Kurian AW, Gabree M, et al. Kapoor NS, Curcio LD, Blakemore CA, et al. All breast cancer patients who develop a second primary cancer should undergo multigene panel testing, according to a paper published in JCO Precision Oncology. Extensive panel testing covering more than 40 genes is being increasingly marketed, but the diagnostic yield and action-ability remains questionable particularly for candidate genes such as TSC2 / PALLD which may not be relevant to patients with suspected hereditary breast cancer. J Natl Cancer Inst 2018; 110:863. ... Sun‐Young Kong, Exon splicing analysis of intronic variants in multigene cancer panel testing for hereditary breast/ovarian cancer, Cancer Science, 10.1111/cas.14600, 111, 10, (3912-3925), (2020). Findings In this cost-effectiveness microsimulation modeling study incorporating data from 11 836 women, unselected BRCA1/BRCA2/PALB2 testing at breast cancer diagnosis was extremely cost-effective … With the increase in uptake of multigene panels, testing for genes outside of BRCA1 and BRCA2 has become more prevalent. Multigene panel testing was about twice as likely as BRCA-only testing to identify disease-associated mutations. A study has found that most women now have multigene testing after a breast cancer diagnosis, but this genetic testing is happening later in the treatment plan than testing for only BRCA1 or BRCA2 mutations. (2015, August 13). The objective in ordering a panel test is to identify a causative mutation by including other candidate genes. But it was also more likely to … Multigene panel sequencing detected ovarian cancer-associated mutations in 11 genes in a large study of nearly 100,000 patients clinically tested for hereditary cancer risk. October 22, 2017. JAMA Oncol 2015; 1:943. With this technology comes the potential to reveal genetic variations that have uncertainty regarding cancer risk and management decisions. Mark Robson, MD 1; Susan Domchek, MD 2. Multigene panel testing for hereditary breast/ovarian cancer risk assessment. Epub 2019 Apr 12. If a gene mutation is found, multigene panel testing may: Give you a better understanding of your cancer risk than single-gene testing. Background. The American Society of Breast Surgeons updated consensus guidelines to recommend multigene panel testing for patients with cancer, including … The JAMA Network Journals. The Invitae Multi-Cancer Panel analyzes 84 genes associated with hereditary cancers across several major organ systems. 1. In clinical practice, panel testing may be ordered for patients who meet clinical guidelines for a single syndrome, such as hereditary breast and ovarian cancer syndrome. Question Is unselected genetic testing of all women with breast cancer cost-effective compared with testing based on clinical criteria or family history?. Hereditary Cancer Syndrome Multigene Panels MOL.TS.182.A v1.0.2020 Introduction Hereditary cancer syndrome multigene panel testing is addressed by this guideline. We use an economic decision model to assess whether the current knowledge on non-BRCA mutation prevalence, cancer … Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing. Gene panels for hereditary breast and ovarian cancer risk assessment are gaining acceptance, even though the clinical utility of these panels is not yet fully defined. Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment. The authors noted that women with breast cancer have a 4%-16% lifetime risk of a second primary cancer. These evaluate up to 43 breast cancer-related genes, compared with limited BRCA 1 and BRCA2 (BRCA1/2) tests. Multigene panel testing looks at multiple genes with one test. Multigene panel testing is becoming more common for patients who are predisposed to Hereditary Breast and Ovarian Cancer Syndrome (HBOC). The Logistics of Multigene Panel Testing in Breast Cancer. multigene panel for 25 genes responsible for breast cancer. Currently, the NCCN guidelines recommend testing of BRCA1 and BRCA2 for females with multiple breast primaries, if her first diagnosis was ≤50 years old. Expansion of routine genetic testing for hereditary breast and ovarian cancer from conventional BRCA testing to a multigene test could improve diagnostic yield and increase the opportunity for cancer prevention in both identified carriers and their relatives. Purpose: The aim of this study was to determine the diagnostic yield of multigene panel testing among patients referred with hereditary breast and ovarian cancer (HBOC). With the advent of next-generation sequencing technologies, multigene panel testing (MGPT) is used increasingly for cancer risk assessment. Thus, instead of single‐gene testing, multigene panel‐based genetic testing is an alternative tool for screening hereditary cancer. Over the past decade, multi-gene panel tests have gained traction in clinical settings. CancerNext is a comprehensive 36-gene panel that identifies inherited risks for at least 8 types of cancers. Meeri Kim. Now, with the introduction of a technology called multigene panel testing, people can learn about not just one but many inherited mutations at once. In a recent Breast Cancer Res Treat. Interest in multigene panel testing was high (84%) and did not considerably differ by cancer status or ethnicity. Women with BRCA1 and BRCA2 mutations may pursue surgery to help prevent breast cancer, for example. Meeri Kim. Multigene panel testing has proved useful as a diagnostic tool for disorders where similar phenotypes can be influenced by multiple genes. [4] 1 Recent advances in next-generation DNA sequencing technology (NGS) have enabled these clinical tests and made them increasingly inexpensive to perform.2, 3 For hereditary cancer syndromes, studies have shown that NGS-based panel … Technical questions remain, however, about the performance and clinical interpretation of gene panels in comparison with traditional tests. CancerNext is a comprehensive 36-gene panel that identifies inherited risks for at least 8 types of cancers. Multigene panel testing for 21 genes in 8753 TNBC patients was performed by a clinical testing laboratory, and testing for 17 genes in 2148 patients was conducted by a Triple Negative Breast Cancer Consortium (TNBCC) of research studies. Allison W. Kurian offers insight on using multigene panel testing to discover breast and ovarian cancer risks that may have otherwise went undetected. Key Points. Multigene panel testing detects pathogenic BRCA1/2 mutations at equivalent rates as limited testing and increases the diagnostic yield. Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms. ScienceDaily. Methods: Patients who met provincial eligibility criteria were tested at the Advanced Molecular Diagnostic Laboratory at Mount Sinai Hospital, Toronto. Author Affiliations Article Information. A universal strategy for multigene panel testing in all patients with CRC is an option versus the current strategy of guideline-based testing using family history and tumor features. Rana HQ, Gelman R, LaDuca H, et al. CURE, Breast Cancer Special Issue 2017, Volume 1, Issue 1. 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