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Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
O'Mahony DG, Ramus SJ, Southey MC, Meagher NS, Hadjisavvas A, John EM, Hamann U, Imyanitov EN, Andrulis IL, Sharma P, Daly MB, Hake CR, Weitzel JN, Jakubowska A, Godwin AK, Arason A, Bane A, Simard J, Soucy P, Caligo MA, Mai PL, Claes KBM, Teixeira MR, Chung WK, Lazaro C, Hulick PJ, Toland AE, Pedersen IS; HEBON Investigators; Neuhausen SL, Vega A, de la Hoya M, Nevanlinna H, Dhawan M, Zampiga V, Danesi R, Varesco L, Gismondi V, Vellone VG, James PA, Janavicius R, Nikitina-Zake L, Nielsen FC, van Overeem Hansen T, Pejovic T, Borg A, Rantala J, Offit K, Montagna M, Nathanson KL, Domchek SM, Osorio A, García MJ, Karlan BY; GEMO Study Collaborators; De Fazio A, Bowtell D; AOCS Group; McGuffog L, Leslie G, Parsons MT, Dörk T, Speith LM, Dos Santos ES, da Costa AABA, Radice P, Peterlongo P, Papi L, Engel C, Hahnen E, Schmutzler RK, Wappenschmidt B, Easton DF, Tischkowitz M, Singer CF, Tan YY, Whittemore AS, Sieh W, Brenton JD, Yannoukakos D, Fostira F, Konstantopoulou I, Soukupova J, Vocka M; CZECANCA Consortium; Chenevix-Trench G, Pharoah PDP, Antoniou AC, Goldgar DE, Spurdle AB, Michailidou K; Consortium of Investigators of Modifiers of BRCA1/2; Evidence-based Network for the … See abstract for full author list ➔ O'Mahony DG, et al. Among authors: de la hoya m. Br J Cancer. 2023 Jun;128(12):2283-2294. doi: 10.1038/s41416-023-02263-5. Epub 2023 Apr 19. Br J Cancer. 2023. PMID: 37076566 Free PMC article.
The variant E233G of the RAD51D gene could be a low-penetrance allele in high-risk breast cancer families without BRCA1/2 mutations.
Rodríguez-López R, Osorio A, Ribas G, Pollán M, Sánchez-Pulido L, de la Hoya M, Ruibal A, Zamora P, Arias JI, Salazar R, Vega A, Martínez JI, Esteban-Cardeñosa E, Alonso C, Letón R, Urioste Azcorra M, Miner C, Armengod ME, Carracedo A, González-Sarmiento R, Caldés T, Díez O, Benítez J. Rodríguez-López R, et al. Among authors: de la hoya m. Int J Cancer. 2004 Jul 20;110(6):845-9. doi: 10.1002/ijc.20169. Int J Cancer. 2004. PMID: 15170666 Free article.
Mutant BRCA1 alleles transmission: different approaches and different biases.
de la Hoya M, Meijers-Heijboer H, Fernández JM, Díez O, Osorio A, Alonso C, van Leeuwen I, Díaz-Rubio E, Cornelisse C, Benítez J, Devilee P, Caldés T. de la Hoya M, et al. Int J Cancer. 2005 Jan 1;113(1):166-7. doi: 10.1002/ijc.20541. Int J Cancer. 2005. PMID: 15386425 Free article.
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