Genetic counseling (GC) and germline (GL) testing rates after adoption of an integrated clinical cancer genetics (CCG) approach to genomics tumor board (GTB).

Klek, Stefan; Heald, Brandie; Milinovich, Alex; Ni, Ying; Abraham, Jame; Grivas, Petros; Mahdi, Haider; Khorana, Alok A.; Bolwell, Brian J.; Sohal, Davendra; Funchain, Pauline

doi:10.1200/jco.2018.36.15_suppl.1511

Cited by 5 publications

(2 citation statements)

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“…Those are limitations of FoundationOne genomic sequencing. It is noteworthy that, ideally, somatic genomic sequencing reports should be reviewed by a trained genetic counselor to discern hints of potential germline mutations that may inform germline testing; however, germline testing cannot be substituted by somatic testing [22].…”

Section: Discussionmentioning

confidence: 99%

Prognostic Value of DNA Damage Response Genomic Alterations in Relapsed/Advanced Urothelial Cancer

et al. 2020

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Background. DNA damage response (DDR) genomic alterations may play an important role in clinical outcomes of patients with urothelial cancer (UC). However, data on the prognostic role of DDR gene alterations in patients with advanced UC remain unclear. Materials and Methods. We retrospectively collected data of three independent patient cohorts with relapsed or advanced UC including 81 and 91 patients from four institutions who underwent FoundationOne genomic sequencing as well as 129 patients selected from The Cancer Genome Atlas bladder cohort. Fisher's exact test was used to determine differences of mutation frequency among the three cohorts. Logistic regression analysis was performed to calculate odds ratio (OR) and 95% confidence interval (CI). Overall survival (OS) was measured from time of initial diagnosis and Cox proportional hazard regression analysis was performed to calculate the hazard ratio (HR) and 95% CI. Results. DDR genomic alterations were present in 76.5% (62/81), 40.7% (37/91), and 51.2% (66/129) of the three cohorts. ATM alterations consistently correlated with significantly shorter OS, whereas other DDR alterations (excluding ATM) were associated with better prognosis. In 152 patients treated with platinum pooled from the three cohorts, the prognostic value of alterations in ATM as compared with other predefined DDR genes was substantially different (ATM: adjusted HR [HR], 2.03; 95% CI, 1.03-4; p = .04; other DDR: adjusted HR, 0.49; 95% CI, 0.31-0.8; p = .003). Conclusions. Genomic alterations in ATM and other DDR genes may have opposite prognostic value in relapsed and/or advanced UC. ATM may have a complex role in UC progression. The Oncologist 2020;25:680-688 Implications for Practice: Somatic mutations of DNA damage response (DDR) genes are frequently found in urothelial cancer and appear to play an important role in tumorigenesis, progression, treatment response, and outcomes. In a set of DDR genes, ATM alterations were associated with worse survival, while other alterations were associated with better survival in advanced urothelial cancer. The results of this study suggest a complex role of ATM in tumor progression and call for further studies to determine the underlying mechanisms and biomarker clinical utility.

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Section: Discussionmentioning

confidence: 99%

Prognostic Value of DNA Damage Response Genomic Alterations in Relapsed/Advanced Urothelial Cancer

et al. 2020

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“…The role of mutant-allele fraction and bi-allelic status in predicting therapeutic response remains elusive. Expert review of somatic tumor testing can identify targets for approved therapies, biomarker-based trials, and trigger dedicated germline mutation testing [ 183 ], with germline mutations reported in up to 24% of patients with UC [ 184 , 185 ]. Importantly, somatic mutation testing is no substitute for germline testing.…”

Section: Biomarker Analysis and Utilizationmentioning

confidence: 99%

Emerging biomarkers in urothelial carcinoma: Challenges and opportunities

Andreatos

Iyer

Grivas

2020

Cancer Treatment and Research Communications

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Advanced urothelial carcinoma (UC) is a very important cause of cancer-related morbidity and mortality with, until recently, only a few available therapeutic options. The treatment landscape has dramatically changed in recent years with the introduction of immune checkpoint inhibitors and the development of novel targeted agents, such as erdafitinib, and antibody-drug conjugates, such as enfortumab vedotin. Cost-effective utilization of this rapidly expanding therapeutic armamentarium can be further optimized via the identification and validation of reliable prognostic and predictive biomarkers that inform prognostication and patient selection. In this review, we aim to summarize examples of recent developments in the rapidly expanding field of emerging biomarkers in UC, outlining challenges and opportunities.

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Role of Targeted Therapies in Management of Metastatic Urothelial Cancer in the Era of Immunotherapy

Grivas

2019

Curr. Treat. Options in Oncol.

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Genetic counseling (GC) and germline (GL) testing rates after adoption of an integrated clinical cancer genetics (CCG) approach to genomics tumor board (GTB).

Cited by 5 publications

References 0 publications

Prognostic Value of DNA Damage Response Genomic Alterations in Relapsed/Advanced Urothelial Cancer

Prognostic Value of DNA Damage Response Genomic Alterations in Relapsed/Advanced Urothelial Cancer

Emerging biomarkers in urothelial carcinoma: Challenges and opportunities

Role of Targeted Therapies in Management of Metastatic Urothelial Cancer in the Era of Immunotherapy

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