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  1. Perea J, Alvaro E, Rodríguez Y, Gravalos C, Sánchez-Tomé E, Rivera B, Colina F, Carbonell P, González-Sarmiento R, Hidalgo M, Urioste M. Approach to early-onset colorectal cancer: clinicopathological, familial, molecular and immunohistochemical characteristics. World J Gastroenterol. 2010 Aug 7;16(29):3697-703. doi: 10.3748/wjg.v16.i29.3697. PubMed PMID: 20677343; PubMed Central PMCID: PMC2915431.
  2. Rivera B, González S, Sánchez-Tomé E, Blanco I, Mercadillo F, Letón R, Benítez J, Robledo M, Capellá G, Urioste M. Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study. Ann Oncol. 2011 Apr;22(4):903-9. doi: 10.1093/annonc/mdq465. Epub 2010 Oct 5. PubMed PMID: 20924072.
  3. Perea J, Rueda D, Canal A, Rodríguez Y, Álvaro E, Osorio I, Alegre C, Rivera B, Martínez J, Benítez J, Urioste M. Age at onset should be a major criterion for subclassification of colorectal cancer. J Mol Diagn. 2014 Jan;16(1):116-26. doi: 10.1016/j.jmoldx.2013.07.010. Epub 2013 Oct 30. PubMed PMID: 24184227.
  4. Rivera B, Perea J, Sánchez E, Villapún M, Sánchez-Tomé E, Mercadillo F, Robledo M, Benítez J, Urioste M. A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia. Eur J Hum Genet. 2014 Mar;22(3):423-6. doi: 10.1038/ejhg.2013.146. Epub 2013 Jul 10. PubMed PMID: 23838596; PubMed Central PMCID: PMC3925274.
  5. Witkowski L, Carrot-Zhang J, Albrecht S, Fahiminiya S, Hamel N, Tomiak E, Grynspan D, Saloustros E, Nadaf J, Rivera B, Gilpin C, Castellsagué E, Silva-Smith R, Plourde F, Wu M, Saskin A, Arseneault M, Karabakhtsian RG, Reilly EA, Ueland FR, Margiolaki A, Pavlakis K, Castellino SM, Lamovec J, Mackay HJ, Roth LM, Ulbright TM, Bender TA, Georgoulias V, Longy M, Berchuck A, Tischkowitz M, Nagel I, Siebert R, Stewart CJ, Arseneau J, McCluggage WG, Clarke BA, Riazalhosseini Y, Hasselblatt M, Majewski J, Foulkes WD. Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type. Nat Genet. 2014 May;46(5):438-43. doi: 10.1038/ng.2931. Epub 2014 Mar 23. PubMed PMID: 24658002.
  6. Sánchez-Tomé E, Rivera B, Perea J, Pita G, Rueda D, Mercadillo F, Canal A, Gonzalez-Neira A, Benitez J, Urioste M. Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X. J Gastroenterol. 2015 Jun;50(6):657-66. doi: 10.1007/s00535-014-1009-0. Epub 2014 Nov 9. PubMed PMID: 25381643.
  7. Cybulski C, Carrot-Zhang J, Kluźniak W, Rivera B, Kashyap A, Wokołorczyk D, Giroux S, Nadaf J, Hamel N, Zhang S, Huzarski T, Gronwald J, Byrski T, Szwiec M, Jakubowska A, Rudnicka H, Lener M, Masojć B, Tonin PN, Rousseau F, Górski B, Dębniak T, Majewski J, Lubiński J, Foulkes WD, Narod SA, Akbari MR. Germline RECQL mutations are associated with breast cancer susceptibility. Nat Genet. 2015 Jun;47(6):643-6. doi: 10.1038/ng.3284. Epub 2015 Apr 27. PubMed PMID: 25915596.
  8. Calvete O, Martinez P, Garcia-Pavia P, Benitez-Buelga C, Paumard-Hernández B, Fernandez V, Dominguez F, Salas C, Romero-Laorden N, Garcia-Donas J, Carrillo J, Perona R, Triviño JC, Andrés R, Cano JM, Rivera B, Alonso-Pulpon L, Setien F, Esteller M, Rodriguez-Perales S, Bougeard G, Frebourg T, Urioste M, Blasco MA, Benítez J. A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families. Nat Commun. 2015 Sep 25;6:8383. doi: 10.1038/ncomms9383. PubMed PMID: 26403419; PubMed Central PMCID: PMC4598567.
  9. Rivera B, Castellsagué E, Bah I, van Kempen LC, Foulkes WD. Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors. N Engl J Med. 2015 Nov 12;373(20):1985-6. doi: 10.1056/NEJMc1506878. PubMed PMID: 26559593.
  10. de Kock L, Wang YC, Revil T, Badescu D, Rivera B, Sabbaghian N, Wu M, Weber E, Sandoval C, Hopman SM, Merks JH, van Hagen JM, Bouts AH, Plager DA, Ramasubramanian A, Forsmark L, Doyle KL, Toler T, Callahan J, Engelenberg C, Bouron-Dal Soglio D, Priest JR, Ragoussis J, Foulkes WD. High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome. J Med Genet. 2016 Jan;53(1):43-52. doi: 10.1136/jmedgenet-2015-103428. Epub 2015 Oct 16. PubMed PMID: 26475046.
  11. Rivera B, Gayden T, Carrot-Zhang J, Nadaf J, Boshari T, Faury D, Zeinieh M, Blanc R, Burk DL, Fahiminiya S, Bareke E, Schüller U, Monoranu CM, Sträter R, Kerl K, Niederstadt T, Kurlemann G, Ellezam B, Michalak Z, Thom M, Lockhart PJ, Leventer RJ, Ohm M, MacGregor D, Jones D, Karamchandani J, Greenwood CM, Berghuis AM, Bens S, Siebert R, Zakrzewska M, Liberski PP, Zakrzewski K, Sisodiya SM, Paulus W, Albrecht S, Hasselblatt M, Jabado N, Foulkes WD, Majewski J. Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors. Acta Neuropathol. 2016 Jun;131(6):847-63. doi: 10.1007/s00401-016-1549-x. Epub 2016 Feb 26. PubMed PMID: 26920151; PubMed Central PMCID: PMC5039033.
  12. Castellsagué E, Rivera B, Foulkes WD. Colorectal Adenomas. N Engl J Med. 2016 Jul 28;375(4):389. doi: 10.1056/NEJMc1604867. PubMed PMID: 27464216.
  13. de Kock L, Rivera B, Revil T, Thorner P, Goudie C, Bouron-Dal Soglio D, Choong CS, Priest JR, van Diest PJ, Tanboon J, Wagner A, Ragoussis J, Choong PF, Foulkes WD. Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma. Br J Cancer. 2017 Jun 6;116(12):1621-1626. doi: 10.1038/bjc.2017.147. Epub 2017 May 18. PubMed PMID: 28524158; PubMed Central PMCID: PMC5518865.
  14. Rivera B, Di Iorio M, Frankum J, Nadaf J, Fahiminiya S, Arcand SL, Burk DL, Grapton D, Tomiak E, Hastings V, Hamel N, Wagener R, Aleynikova O, Giroux S, Hamdan FF, Dionne-Laporte A, Zogopoulos G, Rousseau F, Berghuis AM, Provencher D, Rouleau GA, Michaud JL, Mes-Masson AM, Majewski J, Bens S, Siebert R, Narod SA, Akbari MR, Lord CJ, Tonin PN, Orthwein A, Foulkes WD. Functionally Null RAD51D Missense Mutation Associates Strongly with Ovarian Carcinoma. Cancer Res. 2017 Aug 15;77(16):4517-4529. doi: 10.1158/0008-5472.CAN-17-0190. Epub 2017 Jun 23. PubMed PMID: 28646019.
  15. McCluggage WG, Irving JA, Chong AS, Clarke BA, Young RH, Foulkes WD, Rivera B. Ovarian Microcystic Stromal Tumors Are Characterized by Alterations in the Beta-Catenin-APC Pathway and May be an Extracolonic Manifestation of Familial Adenomatous Polyposis. Am J Surg Pathol. 2018 Jan;42(1):137-139. doi: 10.1097/PAS.0000000000000981. PubMed PMID: 29076875.
  16. Rivera B, Polak P, Foulkes WD. Monogenic Diseases of DNA Repair. N Engl J Med. 2018 Feb 1;378(5):491. doi: 10.1056/NEJMc1716072. PubMed PMID: 29394477.
  17. de Kock L, Geoffrion D, Rivera B, Wagener R, Sabbaghian N, Bens S, Ellezam B, Bouron-Dal Soglio D, Ordóñez J, Sacharow S, Polo Nieto JF, Guillerman RP, Vujanic GM, Priest JR, Siebert R, Foulkes WD. Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion. Genes Chromosomes Cancer. 2018 May;57(5):223-230. doi: 10.1002/gcc.22523. Epub 2018 Feb 10. PubMed PMID: 29315962.
  18. Chong AS, Fahiminiya S, Strother D, Priest J, Albrecht S, Rivera B, Foulkes WD. Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?. Pediatr Blood Cancer. 2018 Oct;65(10):e27294. doi: 10.1002/pbc.27294. Epub 2018 Jun 26. PubMed PMID: 29943907.
  19. Valera ET, McConechy MK, Gayden T, Rivera B, Jones DTW, Wittmann A, Han H, Bareke E, Nikbakht H, Mikael L, Queiroz RG, Suazo VK, Phi JH, Kim SK, Park SH, Fukaya R, Yum MS, Ko TS, de Oliveira RS, Machado HR, Brassesco MS, do Santos AC, Simão GN, Ramalho LNZ, Neder L, Scrideli CA, Tone LG, Majewski J, Jabado N. Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas. Acta Neuropathol. 2018 Oct;136(4):657-660. doi: 10.1007/s00401-018-1898-8. Epub 2018 Aug 24. PubMed PMID: 30143858; PubMed Central PMCID: PMC6132939.
  20. Rivera B. Not so benign. Elife. 2018 Oct 26;7. doi: 10.7554/eLife.42181. PubMed PMID: 30362943; PubMed Central PMCID: PMC6203431.
  21. Gomes CC, Gayden T, Bajic A, Harraz OF, Pratt J, Nikbakht H, Bareke E, Diniz MG, Castro WH, St-Onge P, Sinnett D, Han H, Rivera B, Mikael LG, De Jay N, Kleinman CL, Valera ET, Bassenden AV, Berghuis AM, Majewski J, Nelson MT, Gomez RS, Jabado N. TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw. Nat Commun. 2018 Nov 1;9(1):4572. doi: 10.1038/s41467-018-06690-4. PubMed PMID: 30385747; PubMed Central PMCID: PMC6212533.
  22. Rivera B, Fahiminiya S, Rabinowicz S, Watters AK, Leventer R, Levental M, Foulkes WD. SMO Syndrome: A Unifying Molecular Diagnosis That Suggests Therapeutic Opportunities. JCO precision oncology. 2018 December; doi: 10.1200/PO.18.00146.
  23. Castellsagué E, Li R, Aligue R, González S, Sanz J, Martin E, Velasco À, Capellá G, Stewart CJR, Vidal A, Majewski J, Rivera B, Polak P, Matias-Guiu X, Brunet J, Foulkes WD. Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures. Hum Mutat. 2019 Jan;40(1):36-41. doi: 10.1002/humu.23676. Epub 2018 Nov 20. PubMed PMID: 30362666.
  24. McCluggage WG, Chong AS, Attygalle AD, Clarke BA, Chapman W, Rivera B, Foulkes WD. Expanding the morphological spectrum of ovarian microcystic stromal tumour. Histopathology. 2019 Feb;74(3):443-451. doi: 10.1111/his.13755. Epub 2018 Dec 5. PubMed PMID: 30325056.
  25. Grolleman JE, de Voer RM, Elsayed FA, Nielsen M, Weren RDA, Palles C, Ligtenberg MJL, Vos JR, Ten Broeke SW, de Miranda NFCC, Kuiper RA, Kamping EJ, Jansen EAM, Vink-Börger ME, Popp I, Lang A, Spier I, Hüneburg R, James PA, Li N, Staninova M, Lindsay H, Cockburn D, Spasic-Boskovic O, Clendenning M, Sweet K, Capellá G, Sjursen W, Høberg-Vetti H, Jongmans MC, Neveling K, Geurts van Kessel A, Morreau H, Hes FJ, Sijmons RH, Schackert HK, Ruiz-Ponte C, Dymerska D, Lubinski J, Rivera B, Foulkes WD, Tomlinson IP, Valle L, Buchanan DD, Kenwrick S, Adlard J, Dimovski AJ, Campbell IG, Aretz S, Schindler D, van Wezel T, Hoogerbrugge N, Kuiper RP. Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype. Cancer Cell. 2019 Feb 11;35(2):256-266.e5. doi: 10.1016/j.ccell.2018.12.011. PubMed PMID: 30753826.
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