miRNA biogenesis and inherited disorders: clinico-molecular insights

Trends in Genetics

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

SMARCA4-associated schwannomatosis

Acta Neuropathologica

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 B.; Chong A.; Clarke, A; Schultz, P; Dehner, P; Tchrakian N.; Apellaniz-Ruiz M.; Gilks, C; Kommoss F.; Stewart, J R; Foulkes, D

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

Journal of medical genetics

Chong A.; Apellaniz-Ruiz M.; Kock L.; Soglio D.; Doyle, R; Priest, R; Rivera B.; Foulkes, D

Long-term tumour dormancy in a BRCA1 heterozygote

Journal of Medical Genetics

Amuzu S.; Fu L.; Demko N.; Rivera B.; Domecq C.; Kock L.; Hamel N.; Gilbert L.; Polak P.; Ragoussis J.; Foulkes, D

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

Acta Neuropathologica

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

PLoS Genetics

Cheyou E.; Boni J.; Boulais J.; Pinedo-Carpio E.; Malina A.; Sherill-Rofe D.; Luo, M; Goncalves C.; Bagci H.; Maters A.; Cuella-Martin R.; Tabach Y.; Rincon S.; Côté J.; Rivera B.; Orthwein A.

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 N.; Oliva E.; Chong A.; Rivera-Polo B.; Bennett, A; Nucci, R; Sah S.; 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 E.; Moustafa-Kamal M.; Nadaf J.; Rivera B.; Fahiminiya S.; Wang Y.; Gamache I.; Pacifico C.; Jiang L.; Carrot-Zhang J.; Witkowski L.; Berghuis, M; Schönberger S.; Schneider D.; Hillmer M.; Bens S.; Siebert R.; Stewart, J R; Zhang Z.; Chao, C H; Greenwood, M T; Barford D.; Tischkowitz M.; Majewski J.; Foulkes, D; Teodoro, G

A decade of RAD51C and RAD51D germline variants in cancer

Human Mutation

Boni J.; Idani A.; Roca C.; Feliubadaló L.; Tomiak E.; Weber E.; Foulkes, D; Orthwein A.; Haffaf Z.; Lazaro C.; Rivera B.

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

npj Breast Cancer

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

MRN Complex and Cancer Risk: Old Bottles, New Wine

Clinical Cancer Research

Elkholi, E; Foulkes, D; Rivera B.

Molecular characterization of DICER1-mutated pituitary blastoma

Acta Neuropathologica

Nadaf J.; Kock L.; Chong A.; Korbonits M.; Thorner P.; Benlimame N.; Fu L.; Peet A.; Warner J.; Ploner O.; Shuangshoti S.; Albrecht S.; Hamel N.; Priest, R; Rivera B.; Ragoussis J.; Foulkes, D

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

Journal of Clinical Endocrinology and Metabolism

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

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

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 C.; Rivera B.; McDonald-McGinn, M; Stevenson, A; Smith, J

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 P.; González S.; Navarro M.; Moreno-Cabrera J.; Solanes A.; Darder E.; Carrasco E.; Iglesias S.; Salinas M.; Gómez C.; Velasco À.; Tuset N.; Varela M.; Llort G.; Cajal T.; Grau È.; Dueñas N.; Merlano N.; Matías-Guiu X.; Rivera B.; Balmaña J.; Pineda M.; Brunet J.; Capellá G.; Valle J.; Lázaro C.

The genetic landscape of choroid plexus tumors in children and adults

Neuro-Oncology

Thomas C.; Soschinski P.; Zwaig M.; Oikonomopoulos S.; Okonechnikov K.; Pajtler, W; Sill M.; Schweizer L.; Koch A.; Neumann J.; Schüller U.; Sahm F.; Rauschenbach L.; Keyvani K.; Proescholdt M.; Riemenschneider, J; Segewiß J.; Ruckert C.; Grauer O.; Monoranu C.; Lamszus K.; Patrizi A.; Kordes U.; Siebert R.; Kool M.; Ragoussis J.; Paulus W.; Rivera B.; Hasselblatt M.

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

Scientific Reports

Elkholi, E; Iorio M.; Fahiminiya S.; Arcand, L; Han H.; Nogué C.; Behl S.; Hamel N.; Giroux S.; Ladurantaye M.; Aleynikova O.; Gotlieb, H; Côté J.; Rousseau F.; Tonin, N; Provencher D.; MesMasson A.; Akbari, R; Rivera B.; Foulkes, D

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

Modern Pathology

Chernock, D; Rivera B.; Borrelli N.; Hill, D; Fahiminiya S.; Shah T.; Chong A.; Aqil B.; Mehrad M.; Giordano, J; Sheridan R.; 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 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, S; Laduca H.; Ramus, J; Menon U.; Rosenthal, N; Jacobs I.; Gayther, A; DIcks E.; Nevanlinna H.; Aittomäki K.; Pelttari, M; Ehrencrona H.; Borg Å.; Kvist A.; Rivera B.; Hansen, V O; Djursby M.; Lee A.; Dennis J.; Bowtell, D; Traficante N.; DIez O.; Balmaña J.; Gruber, B; Chenevix-Trench G.; Investigators K.; Jensen A.; Kjær, K; Høgdall E.; Castéra L.; Garber J.; Janavicius R.; Osorio A.; Golmard L.; Vega A.; Couch, J; Robson M.; Gronwald J.; Domchek, M; Culver, O; Hoya M.; Easton, F; Foulkes, D; Tischkowitz M.; Meindl A.; Schmutzler, K; Pharoah, D P; Antoniou, C

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

Journal of Clinical Investigation

Rivera B.; Nadaf J.; Fahiminiya S.; Apellaniz-Ruiz M.; Saskin A.; Chong A.; Sharma S.; Wagener R.; Revil T.; Condello V.; Harra Z.; Hamel N.; Sabbaghian N.; Muchantef K.; Thomas C.; Kock L.; Hébert-Blouin M.; Bassenden, V; Rabenstein H.; Mete O.; Paschke R.; Pusztaszeri, P; Paulus W.; Berghuis A.; Ragoussis J.; Nikiforov, E; Siebert R.; Albrecht S.; Turcotte R.; Hasselblatt M.; Fabian, R; Foulkes, D

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

Acta Neuropathologica

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 S.; Dimopoulos, C; Rouskas K.; Ntritsos G.; Evangelou E.; Narod, A; Mes-Masson A.; Foulkes, D; Rivera B.; Tonin, N; Ragoussis J.; Dimas, S

Homologous recombination DNA repair defects in PALB2-associated breast cancers

npj Breast Cancer

Li A.; Geyer, C; Blecua P.; Lee J.; Selenica P.; Brown, N; Pareja F.; Lee, S K; Kumar R.; Rivera B.; Bi R.; Piscuoglio S.; Wen, Y; Lozada, R; Gularte-Mérida R.; Cavallone L.; Aghmesheh M.; Amor D.; Andrews L.; Antill Y.; Balleine R.; Beesley J.; Blackburn A.; Bogwitz M.; Brown M.; Burgess M.; Burke J.; Butow P.; Caldon L.; Campbell I.; Christian A.; Clarke C.; Cohen P.; Crook A.; Cui J.; Cummings M.; Dawson S.; Fazio A.; Delatycki M.; Dobrovic A.; Dudding T.; Duijf P.; Edkins E.; Edwards S.; Farshid G.; Fellows A.; Field M.; Flanagan J.; Fong P.; Forbes J.; Forrest L.; Fox S.; French J.; Friedlander M.; Ortega D.; Gattas M.; Giles G.; Gill G.; Gleeson M.; Greening S.; Haan E.; Harris M.; Hayward N.; Hickie I.; Hopper J.; Hunt C.; James P.; Jenkins M.; Kefford R.; Kentwell M.; Kirk J.; Kollias J.; Lakhani S.; Lindeman G.; Lipton L.; Lobb L.; Lok S.; Macrea F.; Mann G.; Marsh D.; McLachlan S.; Meiser B.; Milne R.; Nightingale S.; O’Connell S.; Pachter N.; Patterson B.; Phillips K.; Saleh M.; Salisbury E.; Saunders C.; Saunus J.; Scott C.; Scott R.; Sexton A.; Shelling A.; Simpson P.; Spigelman A.; Spurdle M.; Stone J.; Taylor J.; Thorne H.; Trainer A.; Trench G.; Tucker K.; Visvader J.; Walker L.; Wallis M.; Williams R.; Winship I.; Wu K.; Young M.; Rezoug Z.; Nguyen-Dumont T.; Peterlongo P.; Tondini C.; Terkelsen T.; Rønlund K.; Boonen, E; Mannerma A.; Winqvist R.; Janatova M.; Rajadurai P.; Xia B.; Norton L.; Robson, E; Ng P.; Looi L.; Southey, C; Weigelt B.; Soo-Hwang T.; Tischkowitz M.; Foulkes, D; Reis-Filho, S

Expanding the morphological spectrum of ovarian microcystic stromal tumour

Histopathology

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

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

Cancer Cell

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

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

Human Mutation

Castellsagué E.; Li R.; Aligue R.; González S.; Sanz J.; Martin E.; Velasco À.; Capellá G.; Stewart, J R; Vidal A.; Majewski J.; Rivera B.; Polak P.; Matias-Guiu X.; Brunet J.; Foulkes, D

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 A.; Clarke, A; Young, H; Foulkes, D; Rivera B.

SMO Syndrome: A Unifying Molecular Diagnosis That Suggests Therapeutic Opportunities

JCO Precision Oncology

Rivera B.; Fahiminiya S.; Rabinowicz S.; Watters, A; Leventer R.; Levental M.; Khanna M.; Foulkes, D

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

Pediatric Blood and Cancer

Chong A.; Fahiminiya S.; Strother D.; Priest J.; Albrecht S.; Rivera B.; Foulkes, D

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

Nature Communications

Gomes C.; Gayden T.; Bajic A.; Harraz, F; Pratt J.; Nikbakht H.; Bareke E.; Diniz M.; Castro W.; St-Onge P.; Sinnett D.; Han H.; Rivera B.; Mikael, G; Jay N.; Kleinman, L; Valera E.; Bassenden, V; Berghuis, M; Majewski J.; Nelson, T; Gomez R.; Jabado N.

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

Acta Neuropathologica

Valera E.; McConechy, K; Gayden T.; Rivera B.; Jones, T W; Wittmann A.; Han H.; Bareke E.; Nikbakht H.; Mikael L.; Queiroz R.; Suazo V.; Phi J.; Kim S.; Park S.; Fukaya R.; Yum M.; Ko T.; Oliveira R.; Machado H.; Brassesco M.; Santos A.; Simão G.; Ramalho L.; Neder L.; Scrideli C.; Tone L.; Majewski J.; Jabado N.

Not so benign

eLife

Rivera B.

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

Genes Chromosomes and Cancer

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

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

British Journal of Cancer

Kock L.; Rivera B.; Revil T.; Thorner P.; Goudie C.; Soglio D.; Choong, S; Priest, R; Diest, J; Tanboon J.; Wagner A.; Ragoussis J.; Choong, F M; Foulkes, D

Functionally null RAD51D missense mutation associates strongly with ovarian carcinoma

Cancer Research

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

Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors

Acta Neuropathologica

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

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

Journal of Medical Genetics

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

Germline RECQL mutations are associated with breast cancer susceptibility

Nature Genetics

Cybulski C.; Carrot-Zhang J.; Klulniak W.; Rivera B.; Kashyap A.; Wokolorczyk D.; Giroux S.; Nadaf J.; Hamel N.; Zhang S.; Huzarski T.; Gronwald J.; Byrski T.; Szwiec M.; Jakubowska A.; Rudnicka H.; Lener M.; Masojc B.; Tonin, N; Rousseau F.; Górski B.; Dębniak T.; Majewski J.; Lubinski J.; Foulkes, D; Narod, A; Akbari, R

Biallelic NTHL1 Mutations in a Woman with Multiple Primary Tumors

New England Journal of Medicine

Rivera B.; Castellsagué E.; Bah I.; 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 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.; Trivinõ J.; Andrés R.; Cano J.; Rivera B.; Alonso-Pulpon L.; Setien F.; Esteller M.; Rodriguez-Perales S.; Bougeard G.; Frebourg T.; Urioste M.; Blasco, A; Benítez J.

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

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 J.; Rueda D.; Canal A.; Rodríguez Y.; Álvaro E.; Osorio I.; Alegre C.; Rivera B.; Martínez J.; Benítez J.; Urioste M.

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

Nature Genetics

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, G; Reilly, A; Ueland, R; Margiolaki A.; Pavlakis K.; Castellino, M; Lamovec J.; Mackay, J; Roth, M; Ulbright, M; Bender, A; Georgoulias V.; Longy M.; Berchuck A.; Tischkowitz M.; Nagel I.; Siebert R.; Stewart, J R; Arseneau J.; McCluggage, W; Clarke, A; Riazalhosseini Y.; Hasselblatt M.; Majewski J.; Foulkes, D

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

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

World Journal of Gastroenterology

Perea J.; Alvaro E.; Rodríguez Y.; Gravalos C.; Sánchez-Tomé E.; Rivera B.; Colina F.; Carbonell P.; González-Sarmiento R.; Hidalgo M.; Urioste M.