A Large Case-Control Study Performed in Spanish Population Suggests That RECQL5 Is the Only RECQ Helicase Involved in Breast Cancer Susceptibility.
Marchena-Perea EM, Salazar-Hidalgo ME, Gómez-Sanz A, Arranz-Ledo M, Barroso A, Fernández V, Tejera-Pérez H, Pita G, Núñez-Torres R, Pombo L, Morales-Chamorro R, Cano-Cano JM, del Carmen Soriano M, Garre P, Durán M, Currás-Freixes M, de la Hoya M, Osorio A.
Alterations in Homologous Recombination-Related Genes and Distinct Platinum Response in Metastatic Triple-Negative Breast Cancers: A Subgroup Analysis of the ProfiLER-01 Trial.
Bonnet E, Haddad V, Quesada S, Baffert KA, Lardy-Cléaud A, Treilleux I, Pissaloux D, Attignon V, Wang Q, Buisson A, Heudel PE, Bachelot T, Dufresne A, Eberst L, Toussaint P, Bonadona V, Lasset C, Viari A, Sohier E, Paindavoine S, Combaret V, Pérol D, Ray-Coquard I, Blay JY, Trédan O.
Integration of Universal Germline Genetic Testing for All New Breast Cancer Patients.
Culver JO, Freiberg Y, Ricker C, Comeaux JG, Chang EY, Banerjee V, Sturgeon D, Solomon I, Kagey J, Dobre MG, Carey J, Carr A, Cho S, Lu J, Kang IM, Patel K, Terando A, Ye JC, Li M, Lerman C, Spicer D, Nelson M.
Ann Surg Oncol. 2022 Sep 26. doi: 10.1245/s10434-022-12595-w. Epub ahead of print.
Targeted molecular profiling of epithelial ovarian cancer from Italian BRCA wild-type patients with a BRCA and PARP pathways gene panel.
Salvati A, Carnevali I, Alexandrova E, Facchi S, Ronchi S, Libera L, Sahnane N, Memoli D, Lamberti J, Amabile S, Pepe S, Tarallo R, Sessa F, Weisz A, Tibiletti MG, Rizzo F.
Detection of BRCA1 Pathogenic Variant in a 24-Year-Old Endometrial Cancer Patient: Risks of Several Hereditary Tumor Syndromes Assessed Using Germline Multigene Panel Testing.
Wang X, Kaneko K, Arakawa H, Habano E, Omi M, Nakashima E, Kawachi H, Tonooka A, Omatsu K, Nomura H, Yunokawa M, Kanao H, Takahashi S, Nakajima T, Ueki A.
Case Rep Oncol. 2022 Aug 31;15(2):792-797. doi: 10.1159/000525941.
Survival outcomes of metastatic breast cancer patients by germline BRCA1/2 status in a large multicenter real-world database.
Mailliez A, D’Hondt V, Lusque A, Caron O, Cabel L, Goncalves A, Debled M, Gladieff L, Ferrero JM, Petit T, Mouret-Reynier MA, Eymard JC, Levy C, Uwer L, Leheurteur M, Desmoulins I, Bachelot T, Frenel JS, De la Motte Rouge T, Simon G, Jacot W, Delaloge S.
Int J Cancer. 2022 Sep 26. doi: 10.1002/ijc.34304. Epub ahead of print.
Enhancing the BOADICEA cancer risk prediction model to incorporate new data on RAD51C, RAD51D, BARD1 updates to tumour pathology and cancer incidence.
Lee A, Mavaddat N, Cunningham A, Carver T, Ficorella L, Archer S, Walter FM, Tischkowitz M, Roberts J, Usher-Smith J, Simard J, Schmidt MK, Devilee P, Zadnik V, Jürgens H, Mouret-Fourme E, De Pauw A, Rookus M, Mooij TM, Pharoah PPD, Easton DF, Antoniou AC.
J Med Genet. 2022 Sep 26:jmg-2022-108471. doi: 10.1136/jmg-2022-108471. Epub ahead of print.
Prospective validation of the BOADICEA multifactorial breast cancer risk prediction model in a large prospective cohort study.
Yang X, Eriksson M, Czene K, Lee A, Leslie G, Lush M, Wang J, Dennis J, Dorling L, Carvalho S, Mavaddat N, Simard J, Schmidt MK, Easton DF, Hall P, Antoniou AC.
J Med Genet. 2022 Sep 26:jmg-2022-108806. doi: 10.1136/jmg-2022-108806. Epub ahead of print.
Germline Variants in 32 Cancer-Related Genes among 700 Chinese Breast Cancer Patients by Next-Generation Sequencing: A Clinic-Based, Observational Study.
Yang L, Xie F, Liu C, Zhao J, Hu T, Wu J, Zhao X, Wang S.
Int J Mol Sci. 2022 Sep 24;23(19):11266. doi: 10.3390/ijms231911266.
Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases.
Lakeman IMM, Rodríguez-Girondo MDM, Lee A, Celosse N, Braspenning ME, van Engelen K, van de Beek I, van der Hout AH, Gómez García EB, Mensenkamp AR, Ausems MGEM, Hooning MJ, Adank MA, Hollestelle A, Schmidt MK, van Asperen CJ, Devilee P.
J Med Genet. 2022 Sep 22:jmedgenet-2022-108502. doi: 10.1136/jmg-2022-108502. Epub ahead of print.
Características clínicas de pacientes con Cáncer de Mama y / o Cáncer de Ovario con mutaciones en los genes BRCA1 y BRCA2 en Córdoba, Argentina. [Clinical characteristics of patients with Breast and / or Ovarian Cancer with mutations in the BRCA1 and BRCA2 genes in Córdoba, Argentina.]
Martin CA, Suárez Villasmil L, Sembaj A, Gomez Balangione F, Zunino S, Montes CDC, Borello A, Del Castillo A, Zeballos M, Rossi NT.
Rev Fac Cien Med Univ Nac Cordoba. 2022 Sep 16;79(3):228-234. Spanish. doi: 10.31053/1853.0605.v79.n3.34533.
Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes.
Splicing Analysis of 16 PALB2 ClinVar Variants by Minigene Assays: Identification of Six Likely Pathogenic Variants.
Valenzuela-Palomo A, Sanoguera-Miralles L, Bueno-Martínez E, Esteban-Sánchez A, Llinares-Burguet I, García-Álvarez A, Pérez-Segura P, Gómez-Barrero S, de la Hoya M, Velasco-Sampedro EA.
Gene-based Confirmatory Germline Testing Following Tumor-only Sequencing of Prostate Cancer.
Truong H, Breen K, Nandakumar S, Sjoberg DD, Kemel Y, Mehta N, Lenis AT, Reisz PA, Carruthers J, Benfante N, Joseph V, Khurram A, Gopalan A, Fine SW, Reuter VE, Vickers AJ, Birsoy O, Liu Y, Walsh M, Latham A, Mandelker D, Stadler ZK, Pietzak E, Ehdaie B, Touijer KA, Laudone VP, Slovin SF, Autio KA, Danila DC, Rathkopf DE, Eastham JA, Chen Y, Morris MJ, Offit K, Solit DB, Scher HI, Abida W, Robson ME, Carlo MI.