Genetic Testing in Kidney Cancer Patients: Who, When, and How?

Lui, Sandy T.; Shuch, Brian

doi:10.1016/j.euf.2019.09.005

Cited by 10 publications

(11 citation statements)

References 13 publications

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“…A wide range of PGV prevalence has been reported in literatures, ranging from 3% to 17%, but most of them were limited to patients with selected risk factors, including age of onset, familial tumor history or disease stage et al. ( 9 – 11 , 27 ). Although our results are consistent with Wu’s study, their study was restricted to patients with early onset disease ( 11 ).…”

Section: Discussionmentioning

confidence: 99%

Germline Mutation Landscape and Associated Clinical Characteristics in Chinese Patients With Renal Cell Carcinoma

Kong

Yang

Wen³

et al. 2021

Front. Oncol.

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BackgroundRenal cell carcinoma (RCC) is a disease of genomic alterations, of which the complete panorama helps in facilitating molecular-guided therapy. Germline mutation profiles and associated somatic and clinical characteristics remains unexplored in Chinese RCC patients.MethodsWe retrospectively profiled the germline and somatic mutations of 322 unselected RCC patients using a panel consisting of 808 cancer-related genes. We categorized patients into three groups based on germline mutation status and compared the somatic mutation spectrum among different groups.ResultsApproximately one out of ten (9.9%) RCC patients were identified to carry pathogenic/likely pathogenic (P/LP) germline variants (PGVs), of which 3.7% were variants in syndromic RCC-associated genes and 6.2% were other cancer-predisposition genes. The most common PGV was found in VHL (2.2%), followed by FH, TSC2, ATM, BRCA1, NBN, and BLM (0.6% each). Young patients (≤46 years) were more likely to harbor PGVs. Variants in syndromic RCC-associated genes were predominant identified in young patients, while variants in other cancer-predisposition genes were found in patients >46 years more frequently. Furthermore, 39.3% (11/28) of patients carrying PGVs were detected to have somatic “second hit” events. Germline and somatic sequencing, including microsatellite instability (MSI) status analysis, provided potentially actionable therapeutic targets in 17.1% of patients in the whole cohort.ConclusionsOur results revealed that approximately 10% of RCC patients carried clinically significant germline mutations. Current guidelines recommendation for genetic testing seemed not sensitive enough to identify patients with hereditary RCC susceptibility. It is rational to promote genetic testing in RCC population.

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Section: Discussionmentioning

confidence: 99%

Germline Mutation Landscape and Associated Clinical Characteristics in Chinese Patients With Renal Cell Carcinoma

Kong

Yang

Wen³

et al. 2021

Front. Oncol.

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“…Until recently, genetic testing involved clinical assessment followed by sequential, single gene Sanger sequencing of suspect genes [ 152 , 153 , 154 , 155 , 156 ]. The advent of NGS brought high throughput germline multigene panel [ 157 , 158 , 159 , 160 , 161 ], whole exome [ 162 , 163 , 164 , 165 , 166 , 167 ] and whole genome assessment [ 168 , 169 , 170 , 171 , 172 ] to clinical cancer genetics. These platforms provide tremendous benefit to cancer genetics patients both in community oncology practices and at academic cancer centers; these advantages include increased diagnostic yield, increased speed of testing, optimized testing workflows, decreased expense and the discovery of new cancer-causing genes [ 173 , 174 , 175 , 176 , 177 ].…”

Section: The Community Oncology/academic Cancer Center Alliance Inmentioning

confidence: 99%

The Community Oncology and Academic Medical Center Alliance in the Age of Precision Medicine: Cancer Genetics and Genomics Considerations

Melas

Subbiah

Saadat

et al. 2020

JCM

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Recent public policy, governmental regulatory and economic trends have motivated the establishment and deepening of community health and academic medical center alliances. Accordingly, community oncology practices now deliver a significant portion of their oncology care in association with academic cancer centers. In the age of precision medicine, this alliance has acquired critical importance; novel advances in nucleic acid sequencing, the generation and analysis of immense data sets, the changing clinical landscape of hereditary cancer predisposition and ongoing discovery of novel, targeted therapies challenge community-based oncologists to deliver molecularly-informed health care. The active engagement of community oncology practices with academic partners helps with meeting these challenges; community/academic alliances result in improved cancer patient care and provider efficacy. Here, we review the community oncology and academic medical center alliance. We examine how practitioners may leverage academic center precision medicine-based cancer genetics and genomics programs to advance their patients’ needs. We highlight a number of project initiatives at the City of Hope Comprehensive Cancer Center that seek to optimize community oncology and academic cancer center precision medicine interactions.

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“…If it is a syndrome in which kidney cancer presents during adulthood, a discussion about screening can take place when the patient turns 18. However, if the syndrome is associated with childhood kidney cancer, screening during childhood should be considered [98]. At this time, the optimal screening modality for kidney cancer has not been determined, but urine dipstick, biomarkers, renal ultrasound, and abdominal CT scans have been used with various levels of success [99].…”

Section: Genetic Testing and Renal Cancermentioning

confidence: 99%

Cancer Genetics and Therapeutic Opportunities in Urologic Practice

Adashek

Leonard

Roszik

et al. 2020

Cancers

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This article aims to summarize the current literature on genetic alterations related to tumors of the genitourinary tract. Novel associations have recently been reported between specific DNA alterations and genitourinary malignancies. The most common cause of chromosome 3p loss in clear cell renal cell carcinoma is a chromothripsis event, which concurrently generates a chromosome 5q gain. Specific patterns of clear cell renal cell carcinoma metastatic evolution have been uncovered. The first therapy targeting a specific molecular alteration has now been approved for urothelial carcinoma. Germline mutations in DNA damage repair genes and the transcription factor HOXB13 are associated with prostate cancer and may be targeted therapeutically. The genetic associations noted across different genitourinary cancers can inform potential screening approaches and guide novel targeted treatment strategies.

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Genetic Testing in Kidney Cancer Patients: Who, When, and How?

Cited by 10 publications

References 13 publications

Germline Mutation Landscape and Associated Clinical Characteristics in Chinese Patients With Renal Cell Carcinoma

Germline Mutation Landscape and Associated Clinical Characteristics in Chinese Patients With Renal Cell Carcinoma

The Community Oncology and Academic Medical Center Alliance in the Age of Precision Medicine: Cancer Genetics and Genomics Considerations

Cancer Genetics and Therapeutic Opportunities in Urologic Practice

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