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Page 1
Open-Source Bioinformatic Pipeline to Improve PMS2 Genetic Testing Using Short-Read NGS Data.
Munté E, Feliubadaló L, Del Valle J, González S, Ramos-Muntada M, Balmaña J, Ramon Y Cajal T, Tuset N, Llort G, Cadiñanos J, Brunet J, Capellá G, Lázaro C, Pineda M. Munté E, et al. Among authors: balmana j. J Mol Diagn. 2024 Aug;26(8):727-738. doi: 10.1016/j.jmoldx.2024.05.005. Epub 2024 Jun 6. J Mol Diagn. 2024. PMID: 38851388 Free article.
Large-scale genome-wide association study of 398,238 women unveils seven novel loci associated with high-grade serous epithelial ovarian cancer risk.
Barnes DR, Tyrer JP, Dennis J, Leslie G, Bolla MK, Lush M, Aeilts AM, Aittomäki K, Andrieu N, Andrulis IL, Anton-Culver H, Arason A, Arun BK, Balmaña J, Bandera EV, Barkardottir RB, Berger LPV, de Gonzalez AB, Berthet P, Białkowska K, Bjørge L, Blanco AM, Blok MJ, Bobolis KA, Bogdanova NV, Brenton JD, Butz H, Buys SS, Caligo MA, Campbell I, Castillo C, Claes KBM; GEMO Study Collaborators; EMBRACE Collaborators; Colonna SV, Cook LS, Daly MB, Dansonka-Mieszkowska A, de la Hoya M, deFazio A, DePersia A, Ding YC, Domchek SM, Dörk T, Einbeigi Z, Engel C, Evans DG, Foretova L, Fortner RT, Fostira F, Foti MC, Friedman E, Frone MN, Ganz PA, Gentry-Maharaj A, Glendon G, Godwin AK, González-Neira A, Greene MH, Gronwald J, Guerrieri-Gonzaga A, Hamann U, Hansen TVO, Harris HR, Hauke J, Heitz F, Hogervorst FBL, Hooning MJ, Hopper JL, Huff CD, Huntsman DG, Imyanitov EN; kConFab Investigators; Izatt L, Jakubowska A, James PA, Janavicius R, John EM, Kar S, Karlan BY, Kennedy CJ, Kiemeney LALM, Konstantopoulou I, Kupryjanczyk J, Laitman Y, Lavie O, Lawrenson K, Lester J, Lesueur F, Lopez-Pleguezuelos C, Mai PL, Manoukian S, May T, McNeish IA, Menon U, Milne RL, Modugno F, Mongiovi JM, Monta… See abstract for full author list ➔ Barnes DR, et al. Among authors: balmana j. medRxiv [Preprint]. 2024 Mar 4:2024.02.29.24303243. doi: 10.1101/2024.02.29.24303243. medRxiv. 2024. PMID: 38496424 Free PMC article. Preprint.
Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Pal T, Schon KR, Astiazaran-Symonds E, Balmaña J, Foulkes WD, James P, Klugman S, Livinski AA, Mak JS, Ngeow J, Voian N, Wick MJ, Hanson H, Stewart DR, Tischkowitz M; ACMG Professional Practice and Guidelines Committee. Electronic address: [email protected]. Pal T, et al. Among authors: balmana j. Genet Med. 2024 Dec 4:101243. doi: 10.1016/j.gim.2024.101243. Online ahead of print. Genet Med. 2024. PMID: 39636577
Response to Stern.
Hanson H, Astiazaran-Symonds E, Amendola LM, Balmaña J, Foulkes WD, James P, Klugman S, Ngeow J, Schmutzler R, Voian N, Wick MJ, Pal T, Tischkowitz M, Stewart DR. Hanson H, et al. Among authors: balmana j. Genet Med. 2024 Feb;26(2):101030. doi: 10.1016/j.gim.2023.101030. Epub 2023 Dec 29. Genet Med. 2024. PMID: 38156990 No abstract available.
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.
Herencia-Ropero A, Llop-Guevara A, Staniszewska AD, Domènech-Vivó J, García-Galea E, Moles-Fernández A, Pedretti F, Domènech H, Rodríguez O, Guzmán M, Arenas EJ, Verdaguer H, Calero-Nieto FJ, Talbot S, Tobalina L, Leo E, Lau A, Nuciforo P, Dienstmann R, Macarulla T, Arribas J, Díez O, Gutiérrez-Enríquez S, Forment JV, O'Connor MJ, Albertella M, Balmaña J, Serra V. Herencia-Ropero A, et al. Among authors: balmana j. Genome Med. 2024 Aug 26;16(1):107. doi: 10.1186/s13073-024-01370-z. Genome Med. 2024. PMID: 39187844 Free PMC article.
Olaparib plus trastuzumab in HER2-positive advanced breast cancer patients with germline BRCA1/2 mutations: The OPHELIA phase 2 study.
Alés-Martínez JE, Balmaña J, Sánchez-Rovira P, Salvador Bofill FJ, García Sáenz JÁ, Pimentel I, Morales S, Fernández-Abad M, Lahuerta Martínez A, Ferrer N, Zamora P, Bermejo B, Díaz-Redondo T, López-Ceballos MH, Galán M, Pérez-Escuredo J, Calabuig L, Sampayo M, Pérez-Garcia JM, Cortés J, Llombart-Cussac A. Alés-Martínez JE, et al. Among authors: balmana j. Breast. 2024 Oct;77:103780. doi: 10.1016/j.breast.2024.103780. Epub 2024 Aug 2. Breast. 2024. PMID: 39116683 Free PMC article. Clinical Trial.
ESMO Recommendations on clinical reporting of genomic test results for solid cancers.
van de Haar J, Roepman P, Andre F, Balmaña J, Castro E, Chakravarty D, Curigliano G, Czarnecka AM, Dienstmann R, Horak P, Italiano A, Marchiò C, Monkhorst K, Pritchard CC, Reardon B, Russnes HEG, Sirohi B, Sosinsky A, Spanic T, Turnbull C, Van Allen E, Westphalen CB, Tamborero D, Mateo J. van de Haar J, et al. Among authors: balmana j. Ann Oncol. 2024 Nov;35(11):954-967. doi: 10.1016/j.annonc.2024.06.018. Epub 2024 Jul 9. Ann Oncol. 2024. PMID: 39112111 Free article.
233 results