2023

• miRNA biogenesis and inherited disorders: clinico-molecular insights

  Trends in Genetics

  Pelletier , .; Rivera , .; Fabian , R.; Foulkes , D.

• 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

  American Journal of Surgical Pathology

  McCluggage , W.; Rivera , .; Chong , .; Clarke , A.; Schultz , P.; Dehner , P.; Tchrakian , .; Apellaniz-Ruiz , .; Gilks , C.; Kommoss , .; Stewart , J R.; Foulkes , D.

• SMARCA4-associated schwannomatosis

  Acta Neuropathologica

  Chan-Pak-Choon , .; Roca , .; Chong , .; Nogué , .; Dahlum , .; Austin , .; Fan , .; Spaendonck-Zwarts , Y.; Lambie , K.; Robertson , .; Siebert , .; Rivera , .; Foulkes , D.

2022

• Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1

  Journal of medical genetics

  Chong , .; Apellaniz-Ruiz , .; Kock , .; Soglio , .; Doyle , R.; Priest , R.; Rivera , .; Foulkes , D.

• Long-term tumour dormancy in a BRCA1 heterozygote

  Journal of Medical Genetics

  Amuzu , .; Fu , .; Demko , .; Rivera , .; Domecq , .; Kock , .; Hamel , .; Gilbert , .; Polak , .; Ragoussis , .; Foulkes , D.

• DGCR8 and the six hit, three-step model of schwannomatosis

  Acta Neuropathologica

  Nogué , .; Chong , .; Grau , .; Han , .; Dorca , .; Roca , .; Mosquera , .; Lázaro , .; Foulkes , D.; Brunet , .; Rivera , .

• Systematic proximal mapping of the classical RAD51 paralogs unravel functionally and clinically relevant interactors for genome stability

  PLoS Genetics

  Cheyou , .; Boni , .; Boulais , .; Pinedo-Carpio , .; Malina , .; Sherill-Rofe , .; Luo , M.; Goncalves , .; Bagci , .; Maters , .; Cuella-Martin , .; Tabach , .; Rincon , .; Côté , .; Rivera , .; Orthwein , .

• Ovarian Signet-ring Stromal Tumor: A Morphologic, Immunohistochemical, and Molecular Study of 7 Cases With Discussion of the Differential Diagnosis

  American Journal of Surgical Pathology

  Tchrakian , .; Oliva , .; Chong , .; Rivera-Polo , .; Bennett , A.; Nucci , R.; Sah , .; Schoolmeester , J.; Griend , A.; Foulkes , D.; Clarke , A.; Young , H.; McCluggage , W.

• Germline Missense Variants in CDC20 Result in Aberrant Mitotic Progression and Familial Cancer

  Cancer Research

  Chen , J.; Castellsagué , .; Moustafa-Kamal , .; Nadaf , .; Rivera , .; Fahiminiya , .; Wang , .; Gamache , .; Pacifico , .; Jiang , .; Carrot-Zhang , .; Witkowski , .; Berghuis , M.; Schönberger , .; Schneider , .; Hillmer , .; Bens , .; Siebert , .; Stewart , J R.; Zhang , .; Chao , C H.; Greenwood , M T.; Barford , .; Tischkowitz , .; Majewski , .; Foulkes , D.; Teodoro , G.

• A decade of RAD51C and RAD51D germline variants in cancer

  Human Mutation

  Boni , .; Idani , .; Roca , .; Feliubadaló , .; Tomiak , .; Weber , .; Foulkes , D.; Orthwein , .; Haffaf , .; Lazaro , .; Rivera , .

2021

• Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma

  Genetics in Medicine

  Evans , D.; Messiaen , M.; Foulkes , D.; Irving , E A.; Murray , J.; Perez-Becerril , .; Rivera , .; McDonald-McGinn , M.; Stevenson , A.; Smith , J.

• Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer

  Scientific Reports

  Elkholi , E.; Iorio , .; Fahiminiya , .; Arcand , L.; Han , .; Nogué , .; Behl , .; Hamel , .; Giroux , .; Ladurantaye , .; Aleynikova , .; Gotlieb , H.; Côté , .; Rousseau , .; Tonin , N.; Provencher , .; MesMasson , .; Akbari , R.; Rivera , .; Foulkes , D.

• The genetic landscape of choroid plexus tumors in children and adults

  Neuro-Oncology

  Thomas , .; Soschinski , .; Zwaig , .; Oikonomopoulos , .; Okonechnikov , .; Pajtler , W.; Sill , .; Schweizer , .; Koch , .; Neumann , .; Schüller , .; Sahm , .; Rauschenbach , .; Keyvani , .; Proescholdt , .; Riemenschneider , J.; Segewiß , .; Ruckert , .; Grauer , .; Monoranu , .; Lamszus , .; Patrizi , .; Kordes , .; Siebert , .; Kool , .; Ragoussis , .; Paulus , .; Rivera , .; Hasselblatt , .

• Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer–Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis

  Journal of Molecular Diagnostics

  Rofes , .; González , .; Navarro , .; Moreno-Cabrera , .; Solanes , .; Darder , .; Carrasco , .; Iglesias , .; Salinas , .; Gómez , .; Velasco , .; Tuset , .; Varela , .; Llort , .; Cajal , .; Grau , .; Dueñas , .; Merlano , .; Matías-Guiu , .; Rivera , .; Balmaña , .; Pineda , .; Brunet , .; Capellá , .; Valle , .; Lázaro , .

• Molecular characterization of DICER1-mutated pituitary blastoma

  Acta Neuropathologica

  Nadaf , .; Kock , .; Chong , .; Korbonits , .; Thorner , .; Benlimame , .; Fu , .; Peet , .; Warner , .; Ploner , .; Shuangshoti , .; Albrecht , .; Hamel , .; Priest , R.; Rivera , .; Ragoussis , .; Foulkes , D.

• Common clonal origin of chronic myelomonocytic leukemia and B-cell acute lymphoblastic leukemia in a patient with a germline CHEK2 variant

  Cold Spring Harbor Molecular Case Studies

  Bazinet , .; Heath , .; Chong , .; Simo-Cheyou , R.; Worme , .; Polo , .; Foulkes , D.; Caplan , .; Johnson , A.; Orthwein , .; Mercier , E.

• Prevalence and spectrum of DICER1 mutations in adult-onset thyroid nodules with indeterminate cytology

  Journal of Clinical Endocrinology and Metabolism

  Chong , .; Nikiforov , E.; Condello , .; Wald , I.; Nikiforova , N.; Foulkes , D.; Rivera , .

• MRN Complex and Cancer Risk: Old Bottles, New Wine

  Clinical Cancer Research

  Elkholi , E.; Foulkes , D.; Rivera , .

• Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families

  npj Breast Cancer

  Matis , S.; Zayed , .; Labraki , .; Ladurantaye , .; Matis , A.; Valenzuela , .; Hamel , .; Atayan , .; Rivera , .; Tabach , .; Tonin , N.; Orthwein , .; Mes-Masson , .; Haffaf , .; Foulkes , D.; Polak , .

2020

• Poorly differentiated thyroid carcinoma of childhood and adolescence: a distinct entity characterized by DICER1 mutations

  Modern Pathology

  Chernock , D.; Rivera , .; Borrelli , .; Hill , D.; Fahiminiya , .; Shah , .; Chong , .; Aqil , .; Mehrad , .; Giordano , J.; Sheridan , .; Rutter , M.; Dehner , P.; Foulkes , D.; Nikiforov , E.

• Ovarian and Breast Cancer Risks Associated with Pathogenic Variants in RAD51C and RAD51D

  Journal of the National Cancer Institute

  Yang , .; Song , .; Leslie , .; Engel , .; Hahnen , .; Auber , .; Horváth , .; Kast , .; Niederacher , .; Turnbull , .; Houlston , .; Hanson , .; Loveday , .; Dolinsky , S.; Laduca , .; Ramus , J.; Menon , .; Rosenthal , N.; Jacobs , .; Gayther , A.; DIcks , .; Nevanlinna , .; Aittomäki , .; Pelttari , M.; Ehrencrona , .; Borg , .; Kvist , .; Rivera , .; Hansen , V O.; Djursby , .; Lee , .; Dennis , .; Bowtell , D.; Traficante , .; DIez , .; Balmaña , .; Gruber , B.; Chenevix-Trench , .; Investigators , .; Jensen , .; Kjær , K.; Høgdall , .; Castéra , .; Garber , .; Janavicius , .; Osorio , .; Golmard , .; Vega , .; Couch , J.; Robson , .; Gronwald , .; Domchek , M.; Culver , O.; Hoya , .; Easton , F.; Foulkes , D.; Tischkowitz , .; Meindl , .; Schmutzler , K.; Pharoah , D P.; Antoniou , C.

• DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

  Journal of Clinical Investigation

  Rivera , .; Nadaf , .; Fahiminiya , .; Apellaniz-Ruiz , .; Saskin , .; Chong , .; Sharma , .; Wagener , .; Revil , .; Condello , .; Harra , .; Hamel , .; Sabbaghian , .; Muchantef , .; Thomas , .; Kock , .; Hébert-Blouin , .; Bassenden , V.; Rabenstein , .; Mete , .; Paschke , .; Pusztaszeri , P.; Paulus , .; Berghuis , .; Ragoussis , .; Nikiforov , E.; Siebert , .; Albrecht , .; Turcotte , .; Hasselblatt , .; Fabian , R.; Foulkes , D.

• Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8

  Acta Neuropathologica

  Kock , .; Rivera , .; Foulkes , D.

2019

• Novel POLE pathogenic germline variant in a family with multiple primary tumors results in distinct mutational signatures

  Human Mutation

  Castellsagué , .; Li , .; Aligue , .; González , .; Sanz , .; Martin , .; Velasco , .; Capellá , .; Stewart , J R.; Vidal , .; Majewski , .; Rivera , .; Polak , .; Matias-Guiu , .; Brunet , .; Foulkes , D.

• Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype

  Cancer Cell

  Grolleman , E.; Voer , M.; Elsayed , A.; Nielsen , .; Weren , D A.; Palles , .; Ligtenberg , J L.; Vos , R.; Broeke , W.; Miranda , F C C.; Kuiper , A.; Kamping , J.; Jansen , A M.; Vink-Börger , M.; Popp , .; Lang , .; Spier , .; Hüneburg , .; James , A.; Li , .; Staninova , .; Lindsay , .; Cockburn , .; Spasic-Boskovic , .; Clendenning , .; Sweet , .; Capellá , .; Sjursen , .; Høberg-Vetti , .; Jongmans , C.; Neveling , .; Kessel , .; Morreau , .; Hes , J.; Sijmons , H.; Schackert , K.; Ruiz-Ponte , .; Dymerska , .; Lubinski , .; Rivera , .; Foulkes , D.; Tomlinson , P.; Valle , .; Buchanan , D.; Kenwrick , .; Adlard , .; Dimovski , J.; Campbell , G.; Aretz , .; Schindler , .; Wezel , .; Hoogerbrugge , .; Kuiper , P.

• Expanding the morphological spectrum of ovarian microcystic stromal tumour

  Histopathology

  McCluggage , W.; Chong , .; Attygalle , D.; Clarke , A.; Chapman , .; Rivera , .; Foulkes , D.

• Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer

  Frontiers in Genetics

  Glentis , .; Dimopoulos , C.; Rouskas , .; Ntritsos , .; Evangelou , .; Narod , A.; Mes-Masson , .; Foulkes , D.; Rivera , .; Tonin , N.; Ragoussis , .; Dimas , S.

• Homologous recombination DNA repair defects in PALB2-associated breast cancers

  npj Breast Cancer

  Li , .; Geyer , C.; Blecua , .; Lee , .; Selenica , .; Brown , N.; Pareja , .; Lee , S K.; Kumar , .; Rivera , .; Bi , .; Piscuoglio , .; Wen , Y.; Lozada , R.; Gularte-Mérida , .; Cavallone , .; Aghmesheh , .; Amor , .; Andrews , .; Antill , .; Balleine , .; Beesley , .; Blackburn , .; Bogwitz , .; Brown , .; Burgess , .; Burke , .; Butow , .; Caldon , .; Campbell , .; Christian , .; Clarke , .; Cohen , .; Crook , .; Cui , .; Cummings , .; Dawson , .; Fazio , .; Delatycki , .; Dobrovic , .; Dudding , .; Duijf , .; Edkins , .; Edwards , .; Farshid , .; Fellows , .; Field , .; Flanagan , .; Fong , .; Forbes , .; Forrest , .; Fox , .; French , .; Friedlander , .; Ortega , .; Gattas , .; Giles , .; Gill , .; Gleeson , .; Greening , .; Haan , .; Harris , .; Hayward , .; Hickie , .; Hopper , .; Hunt , .; James , .; Jenkins , .; Kefford , .; Kentwell , .; Kirk , .; Kollias , .; Lakhani , .; Lindeman , .; Lipton , .; Lobb , .; Lok , .; Macrea , .; Mann , .; Marsh , .; McLachlan , .; Meiser , .; Milne , .; Nightingale , .; O’Connell , .; Pachter , .; Patterson , .; Phillips , .; Saleh , .; Salisbury , .; Saunders , .; Saunus , .; Scott , .; Scott , .; Sexton , .; Shelling , .; Simpson , .; Spigelman , .; Spurdle , .; Stone , .; Taylor , .; Thorne , .; Trainer , .; Trench , .; Tucker , .; Visvader , .; Walker , .; Wallis , .; Williams , .; Winship , .; Wu , .; Young , .; Rezoug , .; Nguyen-Dumont , .; Peterlongo , .; Tondini , .; Terkelsen , .; Rønlund , .; Boonen , E.; Mannerma , .; Winqvist , .; Janatova , .; Rajadurai , .; Xia , .; Norton , .; Robson , E.; Ng , .; Looi , .; Southey , C.; Weigelt , .; Soo-Hwang , .; Tischkowitz , .; Foulkes , D.; Reis-Filho , S.

2018

• Monogenic Diseases of DNA Repair

  New England Journal of Medicine

  , .

• Ovarian Microcystic Stromal Tumors Are Characterized by Alterations in the Beta-Catenin-APC Pathway and May be an Extracolonic Manifestation of Familial Adenomatous Polyposis

  American Journal of Surgical Pathology

  McCluggage , W.; Irving , A.; Chong , .; Clarke , A.; Young , H.; Foulkes , D.; Rivera , .

• SMO Syndrome: A Unifying Molecular Diagnosis That Suggests Therapeutic Opportunities

  JCO Precision Oncology

  Rivera , .; Fahiminiya , .; Rabinowicz , .; Watters , A.; Leventer , .; Levental , .; Khanna , .; Foulkes , D.

• Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?

  Pediatric Blood and Cancer

  Chong , .; Fahiminiya , .; Strother , .; Priest , .; Albrecht , .; Rivera , .; Foulkes , D.

• TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw

  Nature Communications

  Gomes , .; Gayden , .; Bajic , .; Harraz , F.; Pratt , .; Nikbakht , .; Bareke , .; Diniz , .; Castro , .; St-Onge , .; Sinnett , .; Han , .; Rivera , .; Mikael , G.; Jay , .; Kleinman , L.; Valera , .; Bassenden , V.; Berghuis , M.; Majewski , .; Nelson , T.; Gomez , .; Jabado , .

• Methylome analysis and whole-exome sequencing reveal that brain tumors associated with encephalocraniocutaneous lipomatosis are midline pilocytic astrocytomas

  Acta Neuropathologica

  Valera , .; McConechy , K.; Gayden , .; Rivera , .; Jones , T W.; Wittmann , .; Han , .; Bareke , .; Nikbakht , .; Mikael , .; Queiroz , .; Suazo , .; Phi , .; Kim , .; Park , .; Fukaya , .; Yum , .; Ko , .; Oliveira , .; Machado , .; Brassesco , .; Santos , .; Simão , .; Ramalho , .; Neder , .; Scrideli , .; Tone , .; Majewski , .; Jabado , .

• Not so benign

  eLife

  Rivera , .

• Multiple DICER1-related tumors in a child with a large interstitial 14q32 deletion

  Genes Chromosomes and Cancer

  Kock , .; Geoffrion , .; Rivera , .; Wagener , .; Sabbaghian , .; Bens , .; Ellezam , .; Soglio , .; Ordóñez , .; Sacharow , .; Nieto , .; Guillerman , R.; Vujanic , M.; Priest , R.; Siebert , .; Foulkes , D.

2017

• Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma

  British Journal of Cancer

  Kock , .; Rivera , .; Revil , .; Thorner , .; Goudie , .; Soglio , .; Choong , S.; Priest , R.; Diest , J.; Tanboon , .; Wagner , .; Ragoussis , .; Choong , F M.; Foulkes , D.

• Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma

  Cancer Research

  Rivera , .; Iorio , .; Frankum , .; Nadaf , .; Fahiminiya , .; Arcand , L.; Burk , L.; Grapton , .; Tomiak , .; Hastings , .; Hamel , .; Wagener , .; Aleynikova , .; Giroux , .; Hamdan , F.; Dionne-Laporte , .; Zogopoulos , .; Rousseau , .; Berghuis , M.; Provencher , .; Rouleau , A.; Michaud , L.; Mes-Masson , .; Majewski , .; Bens , .; Siebert , .; Narod , A.; Akbari , R.; Lord , J.; Tonin , N.; Orthwein , .; Foulkes , D.

2016

• High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome

  Journal of Medical Genetics

  Kock , .; Wang , .; Revil , .; Badescu , .; Rivera , .; Sabbaghian , .; Wu , .; Weber , .; Sandoval , .; Hopman , M J.; Merks , H M.; Hagen , M.; Bouts , H M.; Plager , A.; Ramasubramanian , .; Forsmark , .; Doyle , L.; Toler , .; Callahan , .; Engelenberg , .; Soglio , .; Priest , R.; Ragoussis , .; Foulkes , D.

• Colorectal Adenomas

  New England Journal of Medicine

  , .

• Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

  Acta Neuropathologica

  Rivera , .; Gayden , .; Carrot-Zhang , .; Nadaf , .; Boshari , .; Faury , .; Zeinieh , .; Blanc , .; Burk , L.; Fahiminiya , .; Bareke , .; Schüller , .; Monoranu , M.; Sträter , .; Kerl , .; Niederstadt , .; Kurlemann , .; Ellezam , .; Michalak , .; Thom , .; Lockhart , J.; Leventer , J.; Ohm , .; MacGregor , .; Jones , .; Karamchandani , .; Greenwood , M T.; Berghuis , M.; Bens , .; Siebert , .; Zakrzewska , .; Liberski , P.; Zakrzewski , .; Sisodiya , M.; Paulus , .; Albrecht , .; Hasselblatt , .; Jabado , .; Foulkes , D.; Majewski , .

2015

• Germline RECQL mutations are associated with breast cancer susceptibility

  Nature Genetics

  Cybulski , .; Carrot-Zhang , .; Klulniak , .; Rivera , .; Kashyap , .; Wokolorczyk , .; Giroux , .; Nadaf , .; Hamel , .; Zhang , .; Huzarski , .; Gronwald , .; Byrski , .; Szwiec , .; Jakubowska , .; Rudnicka , .; Lener , .; Masojc , .; Tonin , N.; Rousseau , .; Górski , .; Dębniak , .; Majewski , .; Lubinski , .; Foulkes , D.; Narod , A.; Akbari , R.

• Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

  New England Journal of Medicine

  Rivera , .; Castellsagué , .; Bah , .; Kempen , C.; Foulkes , D.

• A mutation in the POT1 gene is responsible for cardiac angiosarcoma in TP53-negative Li-Fraumeni-like families

  Nature Communications

  Calvete , .; Martinez , .; Garcia-Pavia , .; Benitez-Buelga , .; Paumard-Hernández , .; Fernandez , .; Dominguez , .; Salas , .; Romero-Laorden , .; Garcia-Donas , .; Carrillo , .; Perona , .; Trivinõ , .; Andrés , .; Cano , .; Rivera , .; Alonso-Pulpon , .; Setien , .; Esteller , .; Rodriguez-Perales , .; Bougeard , .; Frebourg , .; Urioste , .; Blasco , A.; Benítez , .

• Genome-wide linkage analysis and tumoral characterization reveal heterogeneity in familial colorectal cancer type X

  Journal of Gastroenterology

  Sánchez-Tomé , E.; Rivera , B.; Perea , J.; Pita , G.; Rueda , D.; Mercadillo , F.; Canal , A.; Gonzalez-Neira , A.; Benitez , J.; Urioste , M.

2014

• A novel AXIN2 germline variant associated with attenuated FAP without signs of oligondontia or ectodermal dysplasia

  European Journal of Human Genetics

  Rivera , B.; Perea , J.; Sánchez , E.; Villapún , M.; Sánchez-Tomé , E.; Mercadillo , F.; Robledo , M.; Benítez , J.; Urioste , M.

• Age at onset should be a major criterion for subclassification of colorectal cancer

  Journal of Molecular Diagnostics

  Perea , .; Rueda , .; Canal , .; Rodríguez , .; Álvaro , .; Osorio , .; Alegre , .; Rivera , .; Martínez , .; Benítez , .; Urioste , .

• Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type

  Nature Genetics

  Witkowski , .; Carrot-Zhang , .; Albrecht , .; Fahiminiya , .; Hamel , .; Tomiak , .; Grynspan , .; Saloustros , .; Nadaf , .; Rivera , .; Gilpin , .; Castellsagué , .; Silva-Smith , .; Plourde , .; Wu , .; Saskin , .; Arseneault , .; Karabakhtsian , G.; Reilly , A.; Ueland , R.; Margiolaki , .; Pavlakis , .; Castellino , M.; Lamovec , .; Mackay , J.; Roth , M.; Ulbright , M.; Bender , A.; Georgoulias , .; Longy , .; Berchuck , .; Tischkowitz , .; Nagel , .; Siebert , .; Stewart , J R.; Arseneau , .; McCluggage , W.; Clarke , A.; Riazalhosseini , .; Hasselblatt , .; Majewski , .; Foulkes , D.

2011

• Clinical and genetic characterization of classical forms of familial adenomatous polyposis: A Spanish population study

  Annals of Oncology

  Rivera , B.; González , S.; Sánchez-Tomé , E.; Blanco , I.; Mercadillo , F.; Letón , R.; Benítez , J.; Robledo , M.; Capellá , G.; Urioste , M.

2010

• Approach to early-onset colorectal cancer: Clinicopathological, familial, molecular and immunohistochemical characteristics

  World Journal of Gastroenterology

  Perea , .; Alvaro , .; Rodríguez , .; Gravalos , .; Sánchez-Tomé , .; Rivera , .; Colina , .; Carbonell , .; González-Sarmiento , .; Hidalgo , .; Urioste , .

• My Bibliography - NCBI

  , .