BRCA1&amp;2 tumoral and germline status for ovarian cancer patients in first line setting within the PAOLA-01 trial

Callens, Céline; Vaur, Dominique; Soubeyran, Isabelle; Rouleau, Étienne; Just, P.-A.; Guillerm, Erell; Golmard, Lisa; Goardon, Nicolas; Sévenet, Nicolas; Cabaret, Odile; Harter, Philipp; Martín, A. González; Pignata, Sandro; Colombo, Nicoletta; Marth, Christian; Vergote, Ignace; Mäenpää, Johanna; Pujade-Lauraine, Éric

doi:10.1093/annonc/mdx372.005

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“…In our study, 11% of tumor samples had insufficient DNA load. In the PAOLA 1 study, only 4.6% of tumor samples were non-informative due to low cellularity and the level of discordance between somatic and germline BRCA testing (gBRCA mut /sBRCA wt ) was only 0.4% [23]. Knowing the BRCA mutational status is a need right from the beginning of treatment for all ovarian cancer patients.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2021

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Aim: FLABRA (NCT02984423) evaluated prevalence of BRCA mutations, genetic counseling and management approaches in patients with ovarian cancer in Latin America. Patients & methods: Patients with ovarian cancer from six Latin American countries were enrolled. Tumor samples were tested for BRCA mutations. In cases with BRCA mutations ( BRCA mut), blood samples were analyzed to determine germline versus somatic mutations. Medical records were reviewed for counseling approach and treatment plan. Results: From 472 patients enrolled, 406 samples yielded conclusive results: 282 were BRCA wild-type ( BRCA wt), 115 were BRCA mut and nine were variants of uncertain significance. In total, 110/115 were tested for germline mutations (77 germline and 33 somatic). Conclusion: Tumor testing to identify mutations in BRCA1/2 in ovarian cancer can help optimize treatment choices, meaning fewer patients require germline testing and genetic counseling, a scant resource in Latin America. Clinical trial registration: NCT02984423 (https://ClinicalTrials.gov)

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Section: Discussionmentioning

confidence: 99%