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Molecular tumor testing in patients with Lynch-like syndrome reveals a de novo mosaic variant of a mismatch repair gene transmitted to offspring.
Guillerm E, Svrcek M, Bardier-Dupas A, Basset N, Coulet F, Colas C. Guillerm E, et al. Among authors: colas c. Eur J Hum Genet. 2020 Jul 16. doi: 10.1038/s41431-020-0689-6. Online ahead of print. Eur J Hum Genet. 2020. PMID: 32678338
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.
Barnes DR, Rookus MA, McGuffog L, Leslie G, Mooij TM, Dennis J, Mavaddat N, Adlard J, Ahmed M, Aittomäki K, Andrieu N, Andrulis IL, Arnold N, Arun BK, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Benitez J, Berthet P, Białkowska K, Blanco AM, Blok MJ, Bonanni B, Boonen SE, Borg Å, Bozsik A, Bradbury AR, Brennan P, Brewer C, Brunet J, Buys SS, Caldés T, Caligo MA, Campbell I, Christensen LL, Chung WK, Claes KBM, Colas C; GEMO Study Collaborators; EMBRACE Collaborators, Collonge-Rame MA, Cook J, Daly MB, Davidson R, de la Hoya M, de Putter R, Delnatte C, Devilee P, Diez O, Ding YC, Domchek SM, Dorfling CM, Dumont M, Eeles R, Ejlertsen B, Engel C, Evans DG, Faivre L, Foretova L, Fostira F, Friedlander M, Friedman E, Frost D, Ganz PA, Garber J, Gehrig A, Gerdes AM, Gesta P, Giraud S, Glendon G, Godwin AK, Goldgar DE, González-Neira A, Greene MH, Gschwantler-Kaulich D, Hahnen E, Hamann U, Hanson H, Hentschel J, Hogervorst FBL, Hooning MJ, Horvath J, Hu C, Hulick PJ, Imyanitov EN; kConFab Investigators; HEBON Investigators; GENEPSO Investigators, Isaacs C, Izatt L, Izquierdo A, Jakubowska A, James PA, Janavicius R, John EM, Joseph V, Karlan BY, Kast K, Koudijs M, Kruse TA, Kwong A, Laitman Y, Lasset C, Lazaro C, Lester J, Lesueur F, Liljegren A, Loud JT, Lubiński J, Mai PL, Manoukian S, Mari V, Mebirouk N, Meijers-Heijboer HEJ, Meindl A, Mensenkamp AR, Miller A, Montagna M, Mouret-Fourme E, Mukherjee S, Mulligan AM, Nathanson KL, Neuhausen SL, Nevanlinna H, Niederacher D, Nielsen FC, Nikitina-Zake L, Noguès C, Olah E, Olopade OI, Ong KR, O'Shaughnessy-Kirwan A, Osorio A, Ott CE, Papi L, Park SK, Parsons MT, Pedersen IS, Peissel B, Peixoto A, Peterlongo P, Pfeiler G, Phillips KA, Prajzendanc K, Pujana MA, Radice P, Ramser J, Ramus SJ, Rantala J, Rennert G, Risch HA, Robson M, Rønlund K, Salani R, Schuster H, Senter L, Shah PD, Sharma P, Side LE, Singer CF, Slavin TP, Soucy P, Southey MC, Spurdle AB, Steinemann D, Steinsnyder Z, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teo SH, Thull DL, Tischkowitz M, Tognazzo S, Toland AE, Trainer AH, Tung N, van Engelen K, van Rensburg EJ, Vega A, Vierstraete J, Wagner G, Walker L, Wang-Gohrke S, Wappenschmidt B, Weitzel JN, Yadav S, Yang X, Yannoukakos D, Zimbalatti D, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC; Consortium of Investigators of Modifiers of BRCA and BRCA2. Barnes DR, et al. Among authors: colas c. Genet Med. 2020 Jul 15. doi: 10.1038/s41436-020-0862-x. Online ahead of print. Genet Med. 2020. PMID: 32665703
Constitutional mismatch repair deficiency-associated brain tumors: report from the European C4CMMRD consortium.
Guerrini-Rousseau L, Varlet P, Colas C, Andreiuolo F, Bourdeaut F, Dahan K, Devalck C, Faure-Conter C, Genuardi M, Goldberg Y, Kuhlen M, Moalla S, Opocher E, Perez-Alonso V, Sehested A, Slavc I, Unger S, Wimmer K, Grill J, Brugières L. Guerrini-Rousseau L, et al. Among authors: colas c. Neurooncol Adv. 2019 Dec 2;1(1):vdz033. doi: 10.1093/noajnl/vdz033. eCollection 2019 May-Dec. Neurooncol Adv. 2019. PMID: 32642664 Free PMC article.
Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system.
Tubeuf H, Caputo SM, Sullivan T, Rondeaux J, Krieger S, Caux-Moncoutier V, Hauchard J, Castelain G, Fiévet A, Meulemans L, Révillion F, Léone M, Boutry-Kryza N, Delnatte C, Guillaud-Bataille M, Cleveland L, Reid S, Southon E, Soukarieh O, Drouet A, Di Giacomo D, Vezain M, Bonnet-Dorion F, Bourdon V, Larbre H, Muller D, Pujol P, Vaz F, Audebert-Bellanger S, Colas C, Venat-Bouvet L, Solano AR, Stoppa-Lyonnet D, Houdayer C, Frebourg T, Gaildrat P, Sharan SK, Martins A. Tubeuf H, et al. Among authors: colas c. Cancer Res. 2020 Jul 8:canres.0895.2020. doi: 10.1158/0008-5472.CAN-20-0895. Online ahead of print. Cancer Res. 2020. PMID: 32641407
Report of the fifth meeting of the European Consortium 'Care for CMMRD' (C4CMMRD), Leiden, The Netherlands, July 6th 2019.
Suerink M, Wimmer K, Brugieres L, Colas C, Gallon R, Ripperger T, Benusiglio PR, Bleiker EMA, Ghorbanoghli Z, Goldberg Y, Hardwick JCH, Kloor M, le Mentec M, Muleris M, Pineda M, Ruiz-Ponte C, Vasen HFA. Suerink M, et al. Among authors: colas c. Fam Cancer. 2020 Jul 2. doi: 10.1007/s10689-020-00194-1. Online ahead of print. Fam Cancer. 2020. PMID: 32613597 Review. No abstract available.
Co-occurrence of germline BRCA1 and CDH1 pathogenic variants.
Villy MC, Mouret-Fourme E, Golmard L, Becette V, Callet N, Marx G, Colas C, Lamarque D, Rouleau E, Stoppa-Lyonnet D. Villy MC, et al. Among authors: colas c. J Med Genet. 2020 Jun 23:jmedgenet-2020-106972. doi: 10.1136/jmedgenet-2020-106972. Online ahead of print. J Med Genet. 2020. PMID: 32576655
Cancer Surveillance Guideline for individuals with PTEN hamartoma tumour syndrome.
Tischkowitz M, Colas C, Pouwels S, Hoogerbrugge N; PHTS Guideline Development Group; European Reference Network GENTURIS. Tischkowitz M, et al. Among authors: colas c. Eur J Hum Genet. 2020 Jun 12. doi: 10.1038/s41431-020-0651-7. Online ahead of print. Eur J Hum Genet. 2020. PMID: 32533092
COVID-19 in breast cancer patients: a cohort at the Institut Curie hospitals in the Paris area.
Vuagnat P, Frelaut M, Ramtohul T, Basse C, Diakite S, Noret A, Bellesoeur A, Servois V, Hequet D, Laas E, Kirova Y, Cabel L, Pierga JY; Institut Curie Breast Cancer and COVID Group, Bozec L, Paoletti X, Cottu P, Bidard FC. Vuagnat P, et al. Breast Cancer Res. 2020 May 28;22(1):55. doi: 10.1186/s13058-020-01293-8. Breast Cancer Res. 2020. PMID: 32460829 Free PMC article.
Guidelines for the Li-Fraumeni and heritable TP53-related cancer syndromes.
Frebourg T, Bajalica Lagercrantz S, Oliveira C, Magenheim R, Evans DG; European Reference Network GENTURIS. Frebourg T, et al. Eur J Hum Genet. 2020 May 26. doi: 10.1038/s41431-020-0638-4. Online ahead of print. Eur J Hum Genet. 2020. PMID: 32457520
Validation of the ARIA items to assess allergic rhinitis control (ARIA-C).
Valero A, Del Cuvillo A, Navarro AM, Colás C, Sastre J, Mullol J. Valero A, et al. Among authors: colas c. Allergy. 2020 May 25. doi: 10.1111/all.14418. Online ahead of print. Allergy. 2020. PMID: 32452064 No abstract available.
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