My Bibliography

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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.

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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):903-909. doi: 10.1093/annonc/mdq465. Epub 2010 Oct 5. PubMed PMID: 20924072.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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Rivera B. Not so benign. Elife. 2018 Oct 26;7. doi: 10.7554/eLife.42181. PubMed PMID: 30362943; PubMed Central PMCID: PMC6203431.

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Rivera B, Fahiminiya S, Rabinowicz S, Watters AK, Leventer R, Levental M, Khanna M, Foulkes WD. SMO Syndrome: A Unifying Molecular Diagnosis That Suggests Therapeutic Opportunities. JCO Precis Oncol. 2018 Nov;2:1-6. doi: 10.1200/PO.18.00146. PubMed PMID: 35135164.

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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.

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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.

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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.

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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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Li A, Geyer FC, Blecua P, Lee JY, Selenica P, Brown DN, Pareja F, Lee SSK, Kumar R, Rivera B, Bi R, Piscuoglio S, Wen HY, Lozada JR, Gularte-Mérida R, Cavallone L, Rezoug Z, Nguyen-Dumont T, Peterlongo P, Tondini C, Terkelsen T, Rønlund K, Boonen SE, Mannerma A, Winqvist R, Janatova M, Rajadurai P, Xia B, Norton L, Robson ME, Ng PS, Looi LM, Southey MC, Weigelt B, Soo-Hwang T, Tischkowitz M, Foulkes WD, Reis-Filho JS. Homologous recombination DNA repair defects in PALB2-associated breast cancers. NPJ Breast Cancer. 2019;5:23. doi: 10.1038/s41523-019-0115-9. eCollection 2019. PubMed PMID: 31428676; PubMed Central PMCID: PMC6687719.

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Glentis S, Dimopoulos AC, Rouskas K, Ntritsos G, Evangelou E, Narod SA, Mes-Masson AM, Foulkes WD, Rivera B, Tonin PN, Ragoussis J, Dimas AS. Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer. Front Genet. 2019;10:1005. doi: 10.3389/fgene.2019.01005. eCollection 2019. PubMed PMID: 31681433; PubMed Central PMCID: PMC6813924.

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Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis. J Clin Invest. 2020 Mar 2;130(3):1479-1490. doi: 10.1172/JCI130206. PubMed PMID: 31805011; PubMed Central PMCID: PMC7269565.

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de Kock L, Rivera B, Foulkes WD. Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8. Acta Neuropathol. 2020 Jun;139(6):1115-1118. doi: 10.1007/s00401-020-02139-5. Epub 2020 Mar 2. PubMed PMID: 32124011.

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Chernock RD, Rivera B, Borrelli N, Hill DA, Fahiminiya S, Shah T, Chong AS, Aqil B, Mehrad M, Giordano TJ, Sheridan R, Rutter MM, Dehner LP, Foulkes WD, Nikiforov YE. Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations. Mod Pathol. 2020 Jul;33(7):1264-1274. doi: 10.1038/s41379-020-0458-7. Epub 2020 Jan 14. PubMed PMID: 31937902; PubMed Central PMCID: PMC7329587.

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Yang X, Song H, Leslie G, Engel C, Hahnen E, Auber B, Horváth J, Kast K, Niederacher D, Turnbull C, Houlston R, Hanson H, Loveday C, Dolinsky JS, LaDuca H, Ramus SJ, Menon U, Rosenthal AN, Jacobs I, Gayther SA, Dicks E, Nevanlinna H, Aittomäki K, Pelttari LM, Ehrencrona H, Borg Å, Kvist A, Rivera B, Hansen TVO, Djursby M, Lee A, Dennis J, Bowtell DD, Traficante N, Diez O, Balmaña J, Gruber SB, Chenevix-Trench G, Investigators K, Jensen A, Kjær SK, Høgdall E, Castéra L, Garber J, Janavicius R, Osorio A, Golmard L, Vega A, Couch FJ, Robson M, Gronwald J, Domchek SM, Culver JO, de la Hoya M, Easton DF, Foulkes WD, Tischkowitz M, Meindl A, Schmutzler RK, Pharoah PDP, Antoniou AC. Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D. J Natl Cancer Inst. 2020 Dec 14;112(12):1242-1250. doi: 10.1093/jnci/djaa030. PubMed PMID: 32107557; PubMed Central PMCID: PMC7735771.

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Elkholi IE, Di Iorio M, Fahiminiya S, Arcand SL, Han H, Nogué C, Behl S, Hamel N, Giroux S, de Ladurantaye M, Aleynikova O, Gotlieb WH, Côté JF, Rousseau F, Tonin PN, Provencher D, MesMasson AM, Akbari MR, Rivera B, Foulkes WD. Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer. Sci Rep. 2021 Jan 28;11(1):2409. doi: 10.1038/s41598-021-81106-w. PubMed PMID: 33510186; PubMed Central PMCID: PMC7844268.

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Chong AS, Nikiforov YE, Condello V, Wald AI, Nikiforova MN, Foulkes WD, Rivera B. Prevalence and Spectrum of DICER1 Mutations in Adult-onset Thyroid Nodules with Indeterminate Cytology. J Clin Endocrinol Metab. 2021 Mar 25;106(4):968-977. doi: 10.1210/clinem/dgab025. PubMed PMID: 33460435.

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Thomas C, Soschinski P, Zwaig M, Oikonomopoulos S, Okonechnikov K, Pajtler KW, Sill M, Schweizer L, Koch A, Neumann J, Schüller U, Sahm F, Rauschenbach L, Keyvani K, Proescholdt M, Riemenschneider MJ, Segewiß J, Ruckert C, Grauer O, Monoranu CM, Lamszus K, Patrizi A, Kordes U, Siebert R, Kool M, Ragoussis J, Foulkes WD, Paulus W, Rivera B, Hasselblatt M. The genetic landscape of choroid plexus tumors in children and adults. Neuro Oncol. 2021 Apr 12;23(4):650-660. doi: 10.1093/neuonc/noaa267. PubMed PMID: 33249490; PubMed Central PMCID: PMC8041331.

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Nadaf J, de Kock L, Chong AS, Korbonits M, Thorner P, Benlimame N, Fu L, Peet A, Warner J, Ploner O, Shuangshoti S, Albrecht S, Hamel N, Priest JR, Rivera B, Ragoussis J, Foulkes WD. Molecular characterization of DICER1-mutated pituitary blastoma. Acta Neuropathol. 2021 Jun;141(6):929-944. doi: 10.1007/s00401-021-02283-6. Epub 2021 Mar 1. PubMed PMID: 33644822.

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Bazinet A, Heath J, Chong AS, Simo-Cheyou ER, Worme S, Rivera Polo B, Foulkes WD, Caplan S, Johnson NA, Orthwein A, Mercier FE. Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant. Cold Spring Harb Mol Case Stud. 2021 Jun;7(3). doi: 10.1101/mcs.a006090. Print 2021 Jun. PubMed PMID: 33986034; PubMed Central PMCID: PMC8208041.

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Matis TS, Zayed N, Labraki B, de Ladurantaye M, Matis TA, Camacho Valenzuela J, Hamel N, Atayan A, Rivera B, Tabach Y, Tonin PN, Orthwein A, Mes-Masson AM, El Haffaf Z, Foulkes WD, Polak P. Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families. NPJ Breast Cancer. 2021 Aug 25;7(1):109. doi: 10.1038/s41523-021-00315-8. PubMed PMID: 34433815; PubMed Central PMCID: PMC8387362.

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Evans DG, Messiaen LM, Foulkes WD, Irving REA, Murray AJ, Perez-Becerril C, Rivera B, McDonald-McGinn DM, Stevenson DA, Smith MJ. Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma. Genet Med. 2021 Sep;23(9):1779-1782. doi: 10.1038/s41436-021-01175-0. Epub 2021 Apr 20. PubMed PMID: 33879870; PubMed Central PMCID: PMC8460436.

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Elkholi IE, Foulkes WD, Rivera B. MRN Complex and Cancer Risk: Old Bottles, New Wine. Clin Cancer Res. 2021 Oct 15;27(20):5465-5471. doi: 10.1158/1078-0432.CCR-21-1509. Epub 2021 Jul 14. PubMed PMID: 34261697.

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Rofes P, González S, Navarro M, Moreno-Cabrera JM, Solanes A, Darder E, Carrasco E, Iglesias S, Salinas M, Gómez C, Velasco À, Tuset N, Varela M, Llort G, Ramon Y Cajal T, Grau È, Dueñas N, de la Ossa Merlano N, Matías-Guiu X, Rivera B, Balmaña J, Pineda M, Brunet J, Capellá G, Del Valle J, Lázaro C. Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis. J Mol Diagn. 2021 Nov;23(11):1452-1459. doi: 10.1016/j.jmoldx.2021.07.024. Epub 2021 Aug 25. PubMed PMID: 34454113.

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Nogué C, Chong AS, Grau E, Han H, Dorca E, Roca C, Mosquera JL, Lázaro C, Foulkes WD, Brunet J, Rivera B. DGCR8 and the six hit, three-step model of schwannomatosis. Acta Neuropathol. 2022 Jan;143(1):115-117. doi: 10.1007/s00401-021-02387-z. Epub 2021 Nov 25. PubMed PMID: 34821987.

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Boni J, Idani A, Roca C, Feliubadaló L, Tomiak E, Weber E, Foulkes WD, Orthwein A, El Haffaf Z, Lazaro C, Rivera B. A decade of RAD51C and RAD51D germline variants in cancer. Hum Mutat. 2022 Mar;43(3):285-298. doi: 10.1002/humu.24319. Epub 2021 Dec 30. Review. PubMed PMID: 34923718.

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Chong AS, Apellaniz-Ruiz M, de Kock L, Bouron-Dal Soglio D, Doyle WR, Priest JR, Rivera B, Foulkes WD. Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1. J Med Genet. 2022 Jul;59(7):723-726. doi: 10.1136/jmedgenet-2021-107887. Epub 2021 Sep 20. PubMed PMID: 34544839.

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Chen OJ, Castellsagué E, Moustafa-Kamal M, Nadaf J, Rivera B, Fahiminiya S, Wang Y, Gamache I, Pacifico C, Jiang L, Carrot-Zhang J, Witkowski L, Berghuis AM, Schönberger S, Schneider D, Hillmer M, Bens S, Siebert R, Stewart CJR, Zhang Z, Chao WCH, Greenwood CMT, Barford D, Tischkowitz M, Majewski J, Foulkes WD, Teodoro JG. Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer. Cancer Res. 2022 Oct 4;82(19):3499-3515. doi: 10.1158/0008-5472.CAN-21-3956. PubMed PMID: 35913887.

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Simo Cheyou E, Boni J, Boulais J, Pinedo-Carpio E, Malina A, Sherill-Rofe D, Luo VM, Goncalves C, Bagci H, Maters A, Cuella-Martin R, Tabach Y, Del Rincon S, Côté JF, Rivera B, Orthwein A. Systematic proximal mapping of the classical RAD51 paralogs unravel functionally and clinically relevant interactors for genome stability. PLoS Genet. 2022 Nov;18(11):e1010495. doi: 10.1371/journal.pgen.1010495. eCollection 2022 Nov. PubMed PMID: 36374936; PubMed Central PMCID: PMC9718398.

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Tchrakian N, Oliva E, Chong AS, Rivera-Polo B, Bennett JA, Nucci MR, Sah S, Schoolmeester JK, van der Griend RA, Foulkes WD, Clarke BA, Young RH, McCluggage WG. Ovarian Signet-ring Stromal Tumor: A Morphologic, Immunohistochemical, and Molecular Study of 7 Cases With Discussion of the Differential Diagnosis. Am J Surg Pathol. 2022 Dec 1;46(12):1599-1610. doi: 10.1097/PAS.0000000000001954. Epub 2022 Aug 29. PubMed PMID: 36040033.

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Amuzu S, Fu L, Demko N, Rivera B, Domecq C, de Kock L, Hamel N, Gilbert L, Polak P, Ragoussis J, Foulkes WD. Long-term tumour dormancy in a BRCA1 heterozygote. J Med Genet. 2023 Jan;60(1):33-35. doi: 10.1136/jmedgenet-2021-108269. Epub 2022 Jan 17. PubMed PMID: 35039446.

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Chan-Pak-Choon F, Roca C, Chong AS, Nogué C, Dahlum S, Austin R, Mar Fan H, van Spaendonck-Zwarts KY, Lambie NK, Robertson T, Siebert R, Rivera B, Foulkes WD. SMARCA4-associated schwannomatosis. Acta Neuropathol. 2023 Apr;145(4):505-507. doi: 10.1007/s00401-023-02546-4. Epub 2023 Feb 14. PubMed PMID: 36786840.

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McCluggage WG, Rivera B, Chong AS, Clarke BA, Schultz KAP, Dehner LP, Tchrakian N, Apellaniz-Ruiz M, Gilks CB, Kommoss F, Stewart CJR, Foulkes WD. Well-differentiated Sertoli-Leydig Cell Tumors (SLCTs) Are Not Associated With DICER1 Pathogenic Variants and Represent a Different Tumor Type to Moderately and Poorly Differentiated SLCTs. Am J Surg Pathol. 2023 Apr 1;47(4):490-496. doi: 10.1097/PAS.0000000000002010. Epub 2022 Dec 30. PubMed PMID: 36583307.

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Pelletier D, Rivera B, Fabian MR, Foulkes WD. miRNA biogenesis and inherited disorders: clinico-molecular insights. Trends Genet. 2023 May;39(5):401-414. doi: 10.1016/j.tig.2023.01.009. Epub 2023 Feb 28. Review. PubMed PMID: 36863945.