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Page 1
Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.
Fortuno C, Cops EJ, Davidson AL, Hadler J, Innella G, McKenzie ME, Parsons M, Campbell AM, Dubowsky A, Fargas V, Field MJ, Mar Fan HG, Nichols CB, Poplawski NK, Warwick L, Williams R, Beshay V, Edwards C, Johns A, McPhillips M, Kumar VS, Scott R, Williams M, Scott H, James PA, Spurdle AB. Fortuno C, et al. Eur J Hum Genet. 2024 Dec;32(12):1632-1639. doi: 10.1038/s41431-024-01705-9. Epub 2024 Oct 14. Eur J Hum Genet. 2024. PMID: 39402389 Free PMC article.
Atypical cancer risk profile in carriers of Italian founder BRCA1 variant p.His1673del: Implications for classification and clinical management.
Innella G, Fortuno C, Caleca L, Feng BJ, Carroll C, Parsons MT, Miccoli S, Montagna M, Calistri D, Cortesi L, Pasini B, Manoukian S, Giachino D, Matricardi L, Foti MC, Zampiga V, Piombino C, Barbieri E, Lutati FV, Azzolini J, Danesi R, Arcangeli V, Caputo SM, Boutry-Kryza N, Goussot V, Hiraki S, Richardson M; Hereditary Breast/Ovarian Cancer IOV network (HBOC IOVnet); Ferrari S, Radice P, Spurdle AB, Turchetti D. Innella G, et al. Among authors: fortuno c. Cancer Med. 2024 Aug;13(16):e70114. doi: 10.1002/cam4.70114. Cancer Med. 2024. PMID: 39194334 Free PMC article.
Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.
Parsons MT, de la Hoya M, Richardson ME, Tudini E, Anderson M, Berkofsky-Fessler W, Caputo SM, Chan RC, Cline MS, Feng BJ, Fortuno C, Gomez-Garcia E, Hadler J, Hiraki S, Holdren M, Houdayer C, Hruska K, James P, Karam R, Leong HS, Martins A, Mensenkamp AR, Monteiro AN, Nathan V, O'Connor R, Pedersen IS, Pesaran T, Radice P, Schmidt G, Southey M, Tavtigian S, Thompson BA, Toland AE, Turnbull C, Vogel MJ, Weyandt J, Wiggins GAR, Zec L, Couch FJ, Walker LC, Vreeswijk MPG, Goldgar DE, Spurdle AB. Parsons MT, et al. Among authors: fortuno c. Am J Hum Genet. 2024 Sep 5;111(9):2044-2058. doi: 10.1016/j.ajhg.2024.07.013. Epub 2024 Aug 13. Am J Hum Genet. 2024. PMID: 39142283
Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.
Davidson AL, Michailidou K, Parsons MT, Fortuno C, Bolla MK, Wang Q, Dennis J, Naven M, Abubakar M, Ahearn TU, Alonso MR, Andrulis IL, Antoniou AC, Auvinen P, Behrens S, Bermisheva MA, Bogdanova NV, Bojesen SE, Brüning T, Byers HJ, Camp NJ, Campbell A, Castelao JE, Cessna MH, Chang-Claude J, Chanock SJ, Chenevix-Trench G; NBCS Collaborators; Collée JM, Czene K, Dörk T, Eriksson M, Evans DG, Fasching PA, Figueroa JD, Flyger H, Gago-Dominguez M, García-Closas M, Glendon G, González-Neira A, Grassmann F, Gronwald J, Guénel P, Hadjisavvas A, Haeberle L, Hall P, Hamann U, Hartman M, Ho PJ, Hooning MJ, Hoppe R, Howell A; kConFab Investigators; Jakubowska A, Khusnutdinova EK, Kristensen VN, Li J, Lim J, Lindblom A, Liu J, Lophatananon A, Mannermaa A, Mavroudis DA, Mensenkamp AR, Milne RL, Muir KR, Newman WG, Obi N, Panayiotidis MI, Park SK, Park-Simon TW, Peterlongo P, Radice P, Rashid MU, Rhenius V, Saloustros E, Sawyer EJ, Schmidt MK, Seibold P, Shah M, Southey MC, Teo SH, Tomlinson I, Torres D, Truong T, van de Beek I, van der Hout AH, Wendt CC, Dunning AM, Pharoah PDP, Devilee P, Easton DF, James PA, Spurdle AB. Davidson AL, et al. Among authors: fortuno c. Am J Hum Genet. 2024 Sep 5;111(9):2059-2069. doi: 10.1016/j.ajhg.2024.07.004. Epub 2024 Aug 2. Am J Hum Genet. 2024. PMID: 39096911
Reply to S. Li et al.
Fortuno C, Spurdle AB, James PA. Fortuno C, et al. JCO Precis Oncol. 2024 May;8:e2400270. doi: 10.1200/PO.24.00270. JCO Precis Oncol. 2024. PMID: 38820502 No abstract available.
TP53-associated early breast cancer: new observations from a large cohort.
Sandoval RL, Bottosso M, Tianyu L, Polidorio N, Bychkovsky BL, Verret B, Gennari A, Cahill S, Achatz MI, Caron O, Imbert-Bouteille M, Noguès C, Mawell KN, Fortuno C, Spurdle AB, Tayob N, Andre F, Garber JE. Sandoval RL, et al. Among authors: fortuno c. J Natl Cancer Inst. 2024 Aug 1;116(8):1246-1254. doi: 10.1093/jnci/djae074. J Natl Cancer Inst. 2024. PMID: 38569880
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
Fortuno C, Feng BJ, Carroll C, Innella G, Kohlmann W, Lázaro C, Brunet J, Feliubadaló L, Iglesias S, Menéndez M, Teulé A, Ballinger ML, Thomas DM, Campbell A, Field M, Harris M, Kirk J, Pachter N, Poplawski N, Susman R, Tucker K, Wallis M, Williams R, Cops E, Goldgar D; kConFab Investigators; James PA, Spurdle AB. Fortuno C, et al. JCO Precis Oncol. 2024 Feb;8:e2300453. doi: 10.1200/PO.23.00453. JCO Precis Oncol. 2024. PMID: 38412388
46 results