FLABRA, frontline approach for BRCA testing in an ovarian cancer population: a Latin America epidemiologic study

被引:4
作者
Giornelli, Gonzalo [1 ]
Gallardo, Dolores [2 ]
Hegg, Roberto [3 ]
Abuin, Gonzalo Gomez [4 ]
La Vega, Maximo De [5 ]
Lim-Law, Maria [6 ]
Caceres, Valeria [7 ]
Trujillo, Lina [8 ]
Pilar Estevez-Diz, Maria del [9 ]
Pacheco, Cristian
Sganga, Leonardo [10 ,11 ]
Goncalves, Susana [11 ]
机构
[1] Inst Alexander Fleming, Dept Oncol, Buenos Aires, DF, Argentina
[2] Hosp Nacl Cancerol, Dept Med Oncol, Mexico City, DF, Mexico
[3] Hosp Perola Byington, Sao Paulo, Brazil
[4] Hosp Aleman, Dept Oncol, Buenos Aires, DF, Argentina
[5] CEMIC Ctr Educ Med & Invest Clin, Dept Internal Med, Buenos Aires, DF, Argentina
[6] Hosp Santa Fe, Ctr Oncol Panama, Panama City, Panama
[7] Inst Oncol Angel H Roffo, Dept Clin Oncol, Buenos Aires, DF, Argentina
[8] Inst Nacl Cancerol, Clin Ginecol, Bogota, Colombia
[9] Univ Sao Paulo, Fac Med, Inst Canc Estado Sao Paulo, Sao Paulo, Brazil
[10] Oncosalud, Lima, Peru
[11] AstraZeneca, Buenos Aires, DF, Argentina
关键词
BRCA; Latin America; mutation testing; ovarian cancer; MAINTENANCE THERAPY; TREATMENT RESPONSE; DOUBLE-BLIND; MUTATIONS; PREVALENCE; BREAST; GENES; CARCINOMA; VARIANTS; WOMEN;
D O I
10.2217/fon-2020-1152
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
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.
引用
收藏
页码:1601 / 1609
页数:9
相关论文
共 24 条
  • [1] Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations
    Alemar, Barbara
    Herzog, Josef
    Oliveira Netto, Cristina Brinckmann
    Artigalas, Osvaldo
    Schwartz, Ida Vanessa D.
    Bittar, Camila Matzenbacher
    Ashton-Prolla, Patricia
    Weitzel, Jeffrey N.
    [J]. CANCER GENETICS, 2016, 209 (09) : 417 - 422
  • [2] BRCA Mutation Frequency and Patterns of Treatment Response in BRCA Mutation-Positive Women With Ovarian Cancer: A Report From the Australian Ovarian Cancer Study Group
    Alsop, Kathryn
    Fereday, Sian
    Meldrum, Cliff
    deFazio, Anna
    Emmanuel, Catherine
    George, Joshy
    Dobrovic, Alexander
    Birrer, Michael J.
    Webb, Penelope M.
    Stewart, Colin
    Friedlander, Michael
    Fox, Stephen
    Bowtell, David
    Mitchell, Gillian
    [J]. JOURNAL OF CLINICAL ONCOLOGY, 2012, 30 (21) : 2654 - 2663
  • [3] Founder and Recurrent Mutations in BRCA1 and BRCA2 Genes in Latin American Countries: State of the Art and Literature Review
    Andres Ossa, Carlos
    Torres, Diana
    [J]. ONCOLOGIST, 2016, 21 (07) : 832 - 839
  • [4] Integrated genomic analyses of ovarian carcinoma
    Bell, D.
    Berchuck, A.
    Birrer, M.
    Chien, J.
    Cramer, D. W.
    Dao, F.
    Dhir, R.
    DiSaia, P.
    Gabra, H.
    Glenn, P.
    Godwin, A. K.
    Gross, J.
    Hartmann, L.
    Huang, M.
    Huntsman, D. G.
    Iacocca, M.
    Imielinski, M.
    Kalloger, S.
    Karlan, B. Y.
    Levine, D. A.
    Mills, G. B.
    Morrison, C.
    Mutch, D.
    Olvera, N.
    Orsulic, S.
    Park, K.
    Petrelli, N.
    Rabeno, B.
    Rader, J. S.
    Sikic, B. I.
    Smith-McCune, K.
    Sood, A. K.
    Bowtell, D.
    Penny, R.
    Testa, J. R.
    Chang, K.
    Dinh, H. H.
    Drummond, J. A.
    Fowler, G.
    Gunaratne, P.
    Hawes, A. C.
    Kovar, C. L.
    Lewis, L. R.
    Morgan, M. B.
    Newsham, I. F.
    Santibanez, J.
    Reid, J. G.
    Trevino, L. R.
    Wu, Y. -Q.
    Wang, M.
    [J]. NATURE, 2011, 474 (7353) : 609 - 615
  • [5] CALLENS C, 2017, ANN ONCOL, V28, P330
  • [6] BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population
    Cardoso, Florencia C.
    Goncalves, Susana
    Mele, Pablo G.
    Liria, Natalia C.
    Sganga, Leonardo
    Diaz Perez, Ignacio
    Podesta, Ernesto J.
    Solano, Angela R.
    [J]. HUMAN GENOMICS, 2018, 12
  • [7] Rucaparib maintenance treatment for recurrent ovarian carcinoma after response to platinum therapy (ARIEL3): a randomised, double-blind, placebo-controlled, phase 3 trial
    Coleman, Robert L.
    Oza, Amit M.
    Lorusso, Domenico
    Aghajanian, Carol
    Oaknin, Ana
    Dean, Andrew
    Colombo, Nicoletta
    Weberpals, Johanne, I
    Clamp, Andrew
    Scambia, Giovanni
    Leary, Alexandra
    Holloway, Robert W.
    Amenedo Gancedo, Margarita
    Fong, Peter C.
    Goh, Jeffrey C.
    O'Malley, David M.
    Armstrong, Deborah K.
    Garcia-Donas, Jesus
    Swisher, Elizabeth M.
    Floquet, Anne
    Konecny, Gottfried E.
    McNeish, lain A.
    Scott, Clare L.
    Cameron, Terri
    Maloney, Lara
    Isaacson, Jeff
    Goble, Sandra
    Grace, Caroline
    Harding, Thomas C.
    Raponi, Mitch
    Sun, James
    Lin, Kevin K.
    Giordano, Heidi
    Ledermann, Jonathan A.
    [J]. LANCET, 2017, 390 (10106) : 1949 - 1961
  • [8] Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil
    Cotrim, Deborah Porto
    Goncalves Ribeiro, Adriana Regina
    Paixao, Daniele
    de Queiroz Soares, Diogo Cordeiro
    Jbili, Rima
    Pandolfi, Natasha Carvalho
    Cezana, Camila
    Mauro, Carine de Cassia
    Mantoan, Henrique
    Bovolim, Graziele
    de Brot, Louise
    Torrezan, Giovana Tardin
    Carraro, Dirce Maria
    Baiocchi, Glauco
    da Cruz Formiga, Maria Nirvana
    da Costa, Alexandre A. B. A.
    [J]. BMC CANCER, 2019, 19 (1)
  • [9] The spectrum of BRCA1 and BRCA2 alleles in Latin America and the Caribbean: a clinical perspective
    Dutil, Julie
    Golubeva, Volha A.
    Pacheco-Torres, Alba L.
    Diaz-Zabala, Hector J.
    Matta, Jaime L.
    Monteiro, Alvaro N.
    [J]. BREAST CANCER RESEARCH AND TREATMENT, 2015, 154 (03) : 441 - 453
  • [10] Niraparib in Patients with Newly Diagnosed Advanced Ovarian Cancer
    Gonzalez-Martin, A.
    Pothuri, B.
    Vergote, I.
    DePont Christensen, R.
    Graybill, W.
    Mirza, M. R.
    McCormick, C.
    Lorusso, D.
    Hoskins, P.
    Freyer, G.
    Baumann, K.
    Jardon, K.
    Redondo, A.
    Moore, R. G.
    Vulsteke, C.
    O'Cearbhaill, R. E.
    Lund, B.
    Backes, F.
    Barretina-Ginesta, P.
    Haggerty, A. F.
    Rubio-Perez, M. J.
    Shahin, M. S.
    Mangili, G.
    Bradley, W. H.
    Bruchim, I.
    Sun, K.
    Malinowska, I. A.
    Li, Y.
    Gupta, D.
    Monk, B. J.
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2019, 381 (25) : 2391 - 2402