FLABRA, Frontline Approach for
            <i>BRCA</i>
            Testing in an Ovarian Cancer Population: A Latin America Epidemiologic Study

Giornelli, Gonzalo; Gallardo, Dolores; Hegg, Roberto; Abuin, G. Gomez; Vega, Máximo de la; Lim-Law, Maria; Cáceres, Valeria; Trujillo, Lina María; Estevez-Diz, Maria Del Pilar; Pacheco, Cristian; Sganga, Leonardo; Goncalves, Susana

doi:10.2217/fon-2020-1152

Cited by 6 publications

(2 citation statements)

References 26 publications

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“…In general, in 13–23% of the diagnostic histological samples from HGSOC patients, a pathogenic BRCA1 or BRCA2 gene variant can be found [ 43 , 44 ]. In the AGO TR 1 study, 6.3% of the included ovarian cancer patients had somatic BRCA1/2 gene mutations [ 45 ], while the FLABRA study showed a higher than estimated rate of tumor BRCA mutations in ovarian cancer patients in a Latin American population of 28%, without specifying whether it was at the germline or somatic level [ 46 ].…”

Section: Ovarian Cancermentioning

confidence: 99%

Predictive Value and Therapeutic Significance of Somatic BRCA Mutation in Solid Tumors

Szentmartoni,

Mühl,

Csanda

et al. 2024

Biomedicines

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Ten percent of patients with breast cancer, and probably somewhat more in patients with ovarian cancer, have inherited germline DNA mutations in the breast and ovarian cancer genes BRCA1 and BRCA2. In the remaining cases, the disease is caused by acquired somatic genetic and epigenetic alterations. Targeted therapeutic agents, such as poly ADP-ribose polymerases (PARP) inhibitors (PARPi), have emerged in treating cancers associated with germline BRCA mutations since 2014. The first PARPi was FDA-approved initially for ovarian cancer patients with germline BRCA mutations. Deleterious variants in the BRCA1/BRCA2 genes and homologous recombination deficiency status have been strong predictors of response to PARPi in a few solid tumors since then. However, the relevance of somatic BRCA mutations is less clear. Somatic BRCA-mutated tumors might also respond to this new class of therapeutics. Although the related literature is often controversial, recently published case reports and/or randomized studies demonstrated the effectiveness of PARPi in treating patients with somatic BRCA mutations. The aim of this review is to summarize the predictive role of somatic BRCA mutations and to provide further assistance for clinicians with the identification of patients who could potentially benefit from PARPi.

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Section: Ovarian Cancermentioning

confidence: 99%

Predictive Value and Therapeutic Significance of Somatic BRCA Mutation in Solid Tumors

Szentmartoni,

Mühl,

Csanda

et al. 2024

Biomedicines

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“…The full listing of the identified documents relevant to Clinical Question 4 is provided in Data Supplement 1 (Table S1), and data from the 14 identified studies is presented in Data Supplement 1 (Table S2). 3,[64][65][66][67][68][69][70][71][72][73][74][75][76][77][78][79][80][81][82] The guidance in the identified documents was diverse and frequently specific to the cancer type addressed by the document. One reviewer (H.M.) summarized the recommendations in the guidelines, which were considered by the full panel, who then directed the further systematic review of primary studies noted in the Methods.…”

Section: Development Of Recommendationsmentioning

confidence: 99%

Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline

Tung,

Ricker,

Messersmith

et al. 2024

JCO

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ASCO Guidelines provide recommendations with comprehensive review and analyses of the relevant literature for each recommendation, following the guideline development process as outlined in the ASCO Guidelines Methodology Manual . ASCO Guidelines follow the ASCO Conflict of Interest Policy for Clinical Practice Guidelines . Clinical Practice Guidelines and other guidance (“Guidance”) provided by ASCO is not a comprehensive or definitive guide to treatment options. It is intended for voluntary use by providers and should be used in conjunction with independent professional judgment. Guidance may not be applicable to all patients, interventions, diseases, or stages of diseases. Guidance is based on review and analysis of relevant literature and is not intended as a statement of the standard of care. ASCO does not endorse third-party drugs, devices, services, or therapies and assumes no responsibility for any harm arising from or related to the use of this information. See complete disclaimer in Appendix 1 and Appendix 2 ( online only) for more. PURPOSE To guide use of multigene panels for germline genetic testing for patients with cancer. METHODS An ASCO Expert Panel convened to develop recommendations on the basis of a systematic review of guidelines, consensus statements, and studies of germline and somatic genetic testing. RESULTS Fifty-two guidelines and consensus statements met eligibility criteria for the primary search; 14 studies were identified for Clinical Question 4. RECOMMENDATIONS Patients should have a family history taken and recorded that includes details of cancers in first- and second-degree relatives and the patient's ethnicity. When more than one gene is relevant based on personal and/or family history, multigene panel testing should be offered. When considering what genes to include in the panel, the minimal panel should include the more strongly recommended genes from Table 1 and may include those less strongly recommended. A broader panel may be ordered when the potential benefits are clearly identified, and the potential harms from uncertain results should be mitigated. Patients who meet criteria for germline genetic testing should be offered germline testing regardless of results from tumor testing. Patients who would not normally be offered germline genetic testing based on personal and/or family history criteria but who have a pathogenic or likely pathogenic variant identified by tumor testing in a gene listed in Table 2 under the outlined circumstances should be offered germline testing. Additional information is available at www.asco.org/molecular-testing-and-biomarkers-guidelines .

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Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries

Bednar,

Nitecki Wilke,

Jorgensen

et al. 2024

J Community Genet

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FLABRA, Frontline Approach for BRCA Testing in an Ovarian Cancer Population: A Latin America Epidemiologic Study

Cited by 6 publications

References 26 publications

Predictive Value and Therapeutic Significance of Somatic BRCA Mutation in Solid Tumors

Predictive Value and Therapeutic Significance of Somatic BRCA Mutation in Solid Tumors

Selection of Germline Genetic Testing Panels in Patients With Cancer: ASCO Guideline

Feasibility of an environmental scan–based approach to collecting information about factors impacting cancer genetics services in Latin American countries

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