Genomic landscape of advanced prostate cancer patients with BRCA1 versus BRCA2 mutations as detected by comprehensive genomic profiling of cell-free DNA

Swami, Umang; Reisinger, Raquel; Nussenzveig, Roberto; Hernández, Edgar Javier; Jo, Yeonjung; Sayegh, Nicolas; Wesołowski, Sergiusz; Kiedrowski, Lesli A.; Barata, Pedro C.; Lemmon, Gordon; Bilen, Mehmet Asım; Heath, Elisabeth I.; Nandagopal, Lakshminarayan; Babiker, Hani M.; Pal, Sumanta K.; Lilly, Michael B.; Haaland, Benjamin; Yandell, Mark; Sartor, Oliver; Agarwal, Neeraj

doi:10.3389/fonc.2022.966534

Cited by 2 publications

(1 citation statement)

References 13 publications

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“…CtDNA can detect homologous recombination repair (HRR) defects such as BRCA2 , which has garnered attention for its enriched response to PARP inhibitors [ 5 , 68 ]. Germline DNA repair defects, including BRCA2 , ATM , CHEK2 , BRCA1 , RAD51D , and PALB2 , have been identified in 11.8% of patients with metastatic prostate cancer and 2.7% of patients with localized disease [ 69 ].…”

Section: Clinical Significancementioning

confidence: 99%

Circulating Tumor DNA in Genitourinary Cancers: Detection, Prognostics, and Therapeutic Implications

Gerke,

Jansen,

Bilen

2024

Cancers

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CtDNA is emerging as a non-invasive clinical detection method for several cancers, including genitourinary (GU) cancers such as prostate cancer, bladder cancer, and renal cell carcinoma (RCC). CtDNA assays have shown promise in early detection of GU cancers, providing prognostic information, assessing real-time treatment response, and detecting residual disease and relapse. The ease of obtaining a “liquid biopsy” from blood or urine in GU cancers enhances its potential to be used as a biomarker. Interrogating these “liquid biopsies” for ctDNA can then be used to detect common cancer mutations, novel genomic alterations, or epigenetic modifications. CtDNA has undergone investigation in numerous clinical trials, which could address clinical needs in GU cancers, for instance, earlier detection in RCC, therapeutic response prediction in castration-resistant prostate cancer, and monitoring for recurrence in bladder cancers. The utilization of liquid biopsy for ctDNA analysis provides a promising method of advancing precision medicine within the field of GU cancers.

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Section: Clinical Significancementioning

confidence: 99%

Circulating Tumor DNA in Genitourinary Cancers: Detection, Prognostics, and Therapeutic Implications

Gerke,

Jansen,

Bilen

2024

Cancers

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Frequency of Germline and Somatic BRCA1 and BRCA2 Mutations in Prostate Cancer: An Updated Systematic Review and Meta-Analysis

Valsecchi

Dionisio

Panepinto

et al. 2023

Cancers

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In prostate cancer (PC), the presence of BRCA somatic and/or germline mutation provides prognostic and predictive information. Meta-analysis aims to estimate the frequency of BRCA mutations in patients with PC (PCp). In November 2022, we reviewed literature searching for all articles testing the proportion of BRCA mutations in PCp, without explicit enrichment for familiar risk. The frequency of germline and somatic BRCA1 and/or BRCA2 mutations was described in three stage disease populations (any/metastatic/metastatic castration-resistant PC, mCRPC). Out of 2253 identified articles, 40 were eligible. Here, 0.73% and 1.20% of any stage PCp, 0.94% and 1.10% of metastatic PCp, and 1.21% and 1.10% of mCRPC patients carried germline and somatic BRCA1 mutation, respectively; 3.25% and 6.29% of any stage PCp, 4.51% and 10.26% of metastatic PCp, and 3.90% and 10.52% of mCRPC patients carried germline and somatic BRCA2 mutation, respectively; and 4.47% and 7.18% of any stage PCp, 5.84% and 10.94% of metastatic PCp, and 5.26% and 11.26% of mCRPC patients carried germline and somatic BRCA1/2 mutation, respectively. Somatic mutations are more common than germline and BRCA2 are more common than BRCA1 mutations; the frequency of mutations is higher in the metastatic setting. Despite that BRCA testing in PC is now standard in clinical practice, several open questions remain.

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Genomic landscape of advanced prostate cancer patients with BRCA1 versus BRCA2 mutations as detected by comprehensive genomic profiling of cell-free DNA

Cited by 2 publications

References 13 publications

Circulating Tumor DNA in Genitourinary Cancers: Detection, Prognostics, and Therapeutic Implications

Circulating Tumor DNA in Genitourinary Cancers: Detection, Prognostics, and Therapeutic Implications

Frequency of Germline and Somatic BRCA1 and BRCA2 Mutations in Prostate Cancer: An Updated Systematic Review and Meta-Analysis

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