A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis-Reference-Cited by-同舟云学术

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A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis

Published:2024-05-19 Issue: Volume: Page:
ISSN:1389-9600
Container-title:Familial Cancer
language:en
Short-container-title:Familial Cancer

Author:

Mouren Adrien,Chansavang Albain,Hamzaoui Nadim,Srikaran Arunya,Laurent-Puig Pierre,Marisa Laetitia,De Percin Sixtine,Lupo Audrey,Larousserie Frédérique,Blons Hélène,L’Haridon Anais,Burnichon Nelly,Pasmant Eric,Tlemsani Camille

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s10689-024-00393-0.pdf

Reference24 articles.

1. Maxwell KN, Domchek SM, Nathanson KL, Robson ME (2016) Population frequency of germline BRCA1/2 mutations. J Clin Oncol 34:4183–4185

2. Li S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, Nielsen HR, Lee A, Yang X, McGuffog L, Parsons MT, Andrulis IL, Arnold N, Belotti M, Borg Å, Buecher B, Buys SS, Caputo SM, Chung WK, Colas C, Colonna SV, Cook J, Daly MB, de la Hoya M, de Pauw A, Delhomelle H, Eason J, Engel C, Evans DG, Faust U, Fehm TN, Fostira F, Fountzilas G, Frone M, Garcia-Barberan V, Garre P, Gauthier-Villars M, Gehrig A, Glendon G, Goldgar DE, Golmard L, Greene MH, Hahnen E, Hamann U, Hanson H, Hassan T, Hentschel J, Horvath J, Izatt L, Janavicius R, Jiao Y, John EM, Karlan BY, Kim S-W, Konstantopoulou I, Kwong A, Laugé A, Lee JW, Lesueur F, Mebirouk N, Meindl A, Mouret-Fourme E, Musgrave H, Ngeow Yuen Yie J, Niederacher D, Park SK, Pedersen IS, Ramser J, Ramus SJ, Rantala J, Rashid MU, Reichl F, Ritter J, Rump A, Santamariña M, Saule C, Schmidt G, Schmutzler RK, Senter L, Shariff S, Singer CF, Southey MC, Stoppa-Lyonnet D, Sutter C, Tan Y, Teo SH, Terry MB, Thomassen M, Tischkowitz M, Toland AE, Torres D, Vega A, Wagner SA, Wang-Gohrke S, Wappenschmidt B, Weber BHF, Yannoukakos D, Spurdle AB, Easton DF, Chenevix-Trench G, Ottini L, Antoniou AC (2022) Cancer risks associated with BRCA1 and BRCA2 pathogenic variants. J Clin Oncol 40(14):1529–1541

3. Tlemsani C, Pasmant E, Boudou-Rouquette P, Bellesoeur A, Even J, Larousserie F, Reyes C, Gentien D, Alexandre J, Vidaud M, Anract P, Leroy K, Goldwasser F (2018) BRCA2 loss-of-function and high sensitivity to cisplatin-based chemotherapy in a patient with a pleomorphic soft tissue sarcoma: effect of genomic medicine. Am J Med Sci 356:404–407

4. Ballinger ML, Goode DL, Ray-Coquard I, James PA, Mitchell G, Niedermayr E, Puri A, Schiffman JD, Dite GS, Cipponi A, Maki RG, Brohl AS, Myklebost O, Stratford EW, Lorenz S, Ahn S-M, Ahn J-H, Kim JE, Shanley S, Beshay V, Randall RL, Judson I, Seddon B, Campbell IG, Young M-A, Sarin R, Blay J-Y, O’Donoghue SI, Thomas DM, International Sarcoma Kindred Study (2016) Monogenic and polygenic determinants of sarcoma risk: an international genetic study. Lancet Oncol 17:1261–71

5. Golmard L, Delnatte C, Laugé A, Moncoutier V, Lefol C, Abidallah K, Tenreiro H, Copigny F, Giraudeau M, Guy C, Barbaroux C, Amorim G, Briaux A, Guibert V, Tarabeux J, Caputo S, Collet A, Gesta P, Ingster O, Stern M-H, Rouleau E, de Pauw A, Gauthier-Villars M, Buecher B, Bézieau S, Stoppa-Lyonnet D, Houdayer C (2016) Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations. Oncogene 35:1324–1327

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