Massimo Bogliolo

2023

A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.

Persico, I., Fontana, G., Faleschini, M., Zanchetta, M. E., Ammeti, D., Cappelli, E., Corsolini, F., Mosa, C., Guarina, A., Bogliolo, M., Surrallés, J., Dufour, C., Farruggia, P., Savoia, A. & Bottega, R., 2023, In: Frontiers in Genetics. 14, 10 p., 1209138.

Research output: Contribution to journal › Article › Research › peer-review

1 Citation (Scopus)

2022

CDK5RAP3, a New BRCA2 Partner That Regulates DNA Repair, Is Associated with Breast Cancer Survival

Minguillón Pedreño, J., Bogliolo, M., Surrallés i Calonge, J., Rovirosa Mulet, L., Bustamante-Madrid, P., Camps-Fajol, C., de Garibay, G. R., Shimelis, H., Montanuy Escribano, H., Pujol, R., Hernandez, G., Castillo, P., Soucy, P., Martrat, G., Gómez Moruno, A., Cuadras, D., García, M. J., Gayarre, J., Lázaro Garcia, C. & Benitez, J. & 2 others, Couch, F. J. & Pujana, M. Á., 2022, In: Cancers. 14, 2

Research output: Contribution to journal › Article › Research › peer-review

Open Access

2021

Clinical consequences of BRCA2 hypomorphism

Castells-Roca, L., Gutiérrez-Enríquez, S., Bonache, S., Bogliolo, M., Carrasco, E., Aza-Carmona, M., Montalban, G., Muñoz-Subirana, N., Pujol, R., Cruz Zambrano, C., Llop-Guevara, A., Ramírez de Haro, M. J., Saura, C., Lasa, A., Serra, V., Diez, O., Balmaña Gelpí, J. & Surrallés i Calonge, J., 2021, In: npj Breast Cancer. 7, 1

Research output: Contribution to journal › Article › Research › peer-review

Open Access

3 Citations (Scopus)

FANCA Gene Mutations in North African Fanconi Anemia Patients

Ben, H. A. A., Messaoud, O., Elouej, S., Talmoudi, F., Ayed, W., Mellouli, F., Ouederni, M., Hadiji, S., De, S.-G. A., Delague, V., Lévy, N., Bogliolo, M., Surralles Calonge, J., Abdelhak, S. & Amouri, A., Feb 2021, In: Frontiers in Genetics. 12, 12 p., 610050.

Research output: Contribution to journal › Article › Research › peer-review

Open Access

5 Citations (Scopus)

Hematopoietic Stem Cell Collection for the Gene Therapy of Fanconi Anemia Patients

Navarro, S., Sevilla, J., Rio, P., Sanchez, R., Zubicaray, J., Galvez, E., Merino, E., Sebastian, E., Azqueta, C., Casado, J. A., Segovia, J. C., Alberquilla, O., Bogliolo, M., Roman-Rodriguez, F. J., Gimenez, Y., Larcher, L., Salgado, R., Pujol, R. M., Haldun, R. & Castillo, A. & 10 others, Soulier, J., Querol, S., Fernandez, J., Shcwartz, J., Garcia de Andoin, N., Lopez, R., Catala, A., Surralles, J., Diaz de Heredia, C. & Bueren, J. A., 27 Apr 2021, In: Molecular Therapy. 29, 4, p. 342-342 1 p.

Research output: Contribution to journal › Article › Research › peer-review

Improved collection of hematopoietic stem cells and progenitors from Fanconi anemia patients for gene therapy purposes

Sevilla, J., Navarro Ordóñez, S., Río, P., Sánchez-Domínguez, R., Zubicaray, J., Gálvez, E., Merino, E., Sebastián, E., Azqueta, C., Casado, J. A., Segovia, J. C., Alberquilla, O., Bogliolo, M., Román-Rodríguez, F. J., Giménez, Y., Larcher, L., Salgado Sánchez, R. N., Pujol, R. M., Hladun, R. & Castillo, A. & 10 others, Soulier, J., Querol, S., Fernández, J., Schwartz, J., García de Andoín, N., López, R., Català, A., Surrallés i Calonge, J., Díaz de Heredia, C. & Bueren, J., 2021, In: Molecular Therapy - Methods and Clinical Development. 22, p. 66-75 10 p.

Research output: Contribution to journal › Article › Research › peer-review

Open Access

9 Citations (Scopus)

Natural gene therapy by reverse mosaicism leads to improved hematology in Fanconi anemia patients.

Ramírez, M., Pujol, R., Trujillo-Quintero, J., Minguillón, J., Bogliolo, M., Río, P., Navarro, S., Casado, J., Badell, I., Carrasco, E., Balmaña, J., Català, A. & Surrallés, J., May 2021, In: American Journal of Hematology. 96, 8, p. 989-999 11 p.

Research output: Contribution to journal › Article › Research › peer-review

12 Citations (Scopus)

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias : Experience of the Spanish Network on Bone Marrow Failure Syndromes

Gálvez, E., Vallespín, E., Arias-Salgado, E. G., Sánchez-Valdepeñas, C., Giménez, Y., Navarro Ordóñez, S., Río, P., Bogliolo, M., Pujol, R., Peiró, M., Nevado, J., Zubicaray, J., Sebastián, E., Català, A., Beléndez, C., Díaz de Heredia, C., Galera, A., Badell Serra, I., Madero, L. & Perona, R. & 5 others, Sastre, L., Surrallés i Calonge, J., Bueren, J., Lapunzina, P. & Sevilla, J., 2021, In: HemaSphere. 5

Research output: Contribution to journal › Article › Research › peer-review

Open Access

14 Citations (Scopus)

2019

Broad applicability of NHEJ-mediated gene editing to correct mutations in a variety of Fanconi Anemia genes

Ugalde, L., Roman-Rodriguez, F. J., Alvarez, L., Diez, B., Ramirez, M. J., Bogliolo, M., Hanenberg, H., Rodriguez-Perales, S., Torres-Ruiz, R., Surralles, J., Bueren, J. A. & Rio, P., 1 Nov 2019, In: Human Gene Therapy. 30, 11, p. A13-A13 1 p.

Research output: Contribution to journal › Article › Research › peer-review

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia

Krausz, C., Riera-Escamilla, A., Chianese, C., Moreno-Mendoza, D., Ars, E., Rajmil, O., Pujol, R., Bogliolo, M., Blanco, I., Rodríguez, I., Badell, I., Ruiz-Castañé, E. & Surrallés, J., 1 Jan 2019, In: Genetics in Medicine. 21, 1, p. 189-194 6 p.

Research output: Contribution to journal › Article › Research

39 Citations (Scopus)

Functional comparison of XPF missense mutations associated to multiple DNA repair disorders.

Marín, M., Ramírez, M. J., Carmona, M. A., Jia, N., Ogi, T., Bogliolo, M. & Surrallés, J., 1 Jan 2019, In: Genes. 10, 1, p. - 60.

Research output: Contribution to journal › Article › Research

Open Access

9 Citations (Scopus)

Large case-control study and functional analyses show that FANCM truncating mutations are associated with a breast cancer risk magnitude that varies depending on their location

Jul 2019, In: European Journal of Human Genetics. 27, s1, p. 405-406 2 p.

Research output: Contribution to journal › Article › Research › peer-review

NHEJ- Mediated Gene Editing, a Versatile Approach to Correct a Variety of Fanconi Anemia Genes in HSCs

Roman-Rodriguez, F. J., Ugalde, L., Alvarez, L. A., Diez-Cabezas, B., Surralles, J., Ramirez, M. J., Bogliolo, M., Hanenberg, H., Sevilla, J., Rodriguez-Perales, S., Torres-Ruiz, R., Bueren, J. A. & Rio, P., 13 Nov 2019, In: Blood. 134, 3 p.

Research output: Contribution to journal › Article › Research › peer-review

NHEJ-Mediated Repair of CRISPR-Cas9-Induced DNA Breaks Efficiently Corrects Mutations in HSPCs from Patients with Fanconi Anemia

Román-Rodríguez, F. J., Ugalde, L., Álvarez, L., Díez, B., Ramírez, M. J., Risueño, C., Cortón, M., Bogliolo, M., Bernal, S., March, F., Ayuso, C., Hanenberg, H., Sevilla, J., Rodríguez-Perales, S., Torres-Ruiz, R., Surrallés, J., Bueren, J. A. & Río, P., 7 Nov 2019, In: Cell Stem Cell. 25, 5, p. 607-621.e7 22 p.

Research output: Contribution to journal › Article › Research › peer-review

Open Access

60 Citations (Scopus)

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies

Bogliolo, M., Pujol, R., Aza-Carmona, M., Muñoz-Subirana, N., Rodriguez-Santiago, B., Casado, J. A., Rio, P., Bauser, C., Reina-Castillón, J., Lopez-Sanchez, M., Gonzalez-Quereda, L., Gallano, P., Catalá, A., Ruiz-Llobet, A., Badell, I., Diaz-Heredia, C., Hladun, R., Senent, L., Argiles, B. & Bergua Burgues, J. M. & 48 others, Bañez, F., Arrizabalaga, B., López Almaraz, R., Lopez, M., Figuera, Á., Molinés, A., Pérez De Soto, I., Hernando, I., Muñoz, J. A., Del Rosario Marin, M., Balmaña, J., Stjepanovic, N., Carrasco, E., Cuesta, I., Cosuelo, J. M., Regueiro, A., Moraleda Jimenez, J., Galera-Miñarro, A. M., Rosiñol, L., Carrió, A., Beléndez-Bieler, C., Escudero Soto, A., Cela, E., De La Mata, G., Fernández-Delgado, R., Garcia-Pardos, M. C., Sáez-Villaverde, R., Barragaño, M., Portugal, R., Lendinez, F., Hernadez, I., Vagace, J. M., Tapia, M., Nieto, J., Garcia, M., Gonzalez, M., Vicho, C., Galvez, E., Valiente, A., Antelo, M. L., Ancliff, P., Garcia, F., Dopazo, J., Sevilla, J., Paprotka, T., Pérez-Jurado, L. A., Bueren, J. & Surralles, J., 1 Jan 2019, In: Journal of Medical Genetics.

Research output: Contribution to journal › Article › Research

21 Citations (Scopus)

Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia

Río, P., Navarro, S., Wang, W., Sánchez-Domínguez, R., Pujol, R. M., Segovia, J. C., Bogliolo, M., Merino, E., Wu, N., Salgado, R., Lamana, M. L., Yañez, R. M., Casado, J. A., Giménez, Y., Román-Rodríguez, F. J., Álvarez, L., Alberquilla, O., Raimbault, A., Guenechea, G. & Lozano, M. L. & 17 others, Cerrato, L., Hernando, M., Gálvez, E., Hladun, R., Giralt, I., Barquinero, J., Galy, A., García de Andoín, N., López, R., Catalá, A., Schwartz, J. D., Surrallés, J., Soulier, J., Schmidt, M., Díaz de Heredia, C., Sevilla, J. & Bueren, J. A., 1 Sept 2019, In: Nature Medicine. 25, 9, p. 1396-1401 6 p.

Research output: Contribution to journal › Article › Research › peer-review

110 Citations (Scopus)

The FANCM :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer

Bogliolo, M., Surrallés i Calonge, J., Figlioli, G., Catucci, I., Caleca, L., Viz Lasheras, S., Pujol, R., Kiiski, J. I., Muranen, T. A., Barnes, D. R., Dennis, J., Michailidou, K., Bolla, M. K., Leslie, G., Aalfs, C. M., Adank, M. A., Adlard, J., Agata, S., Cadoo, K. & Agnarsson, B. A. & 256 others, Ahearn, T., Aittomäki, K., Ambrosone, C. B., Andrews, L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Arnold, N., Aronson, K. J., Arun, B. K., Asseryanis, E., Auber, B., Auvinen, P., Azzollini, J., Balmaña Gelpí, J., Barkardottir, R. B., Barrowdale, D., Barwell, J., Beane Freeman, L. E., Beauparlant, C. J., Beckmann, M. W., Behrens, S., Benitez, J., Berger, R., Bermisheva, M., Blanco, A. M., Blomqvist, C., Bogdanova, N. V., Bojesen, A., Bojesen, S. E., Bonanni, B., Borg, Å., Brady, A. F., Brauch, H., Brenner, H., Brüning, T., Burwinkel, B., Buys, S., Caldes, T., Caliebe, A., Caligo, M., Campa, D., Campbell, I., Canzian, F., Castelao, J. E., Chang-Claude, J., Chanock, S. J., Claes, K., Clarke, C. L., Collavoli, A., Conner, T. A., Cox, D. G., Cybulski, C., Czene, K., Daly, M. B., De la Hoya, M., Devilee, P., Diez, O., Ding, Y. C., Dite, G. S., Ditsch, N., Domchek, S. M., Dorfling, C. M., dos-Santos-Silva, I., Durda, K., Dwek, M., Eccles, D. M., Ekici, A. B., Eliassen, A. H., Ellberg, C., Eriksson, M., Evans, D. G., Fasching, P. A., Figueroa, J., Flyger, H., Foulkes, W. D., Friebel, T. M., Friedman, E., Gabrielson, M., Gaddam, P., Gago-Dominguez, M., Gao, C., Gapstur, S. M., Garber, J., García-Closas, M., García-Sáenz, J. A., Gaudet, M. M., Gayther, S. A., Giles, G. G., Glendon, G., Godwin, A. K., Goldberg, M. S., Goldgar, D. E., Guénel, P., Gutierrez-Barrera, A. M., Haeberle, L., Haiman, C. A., Håkansson, N., Hall, P., Hamann, U., Harrington, P. A., Hein, A., Heyworth, J., Hillemanns, P., Hollestelle, A., Hopper, J. L., Hosgood, H. D., Howell, A., Hu, C., Hulick, P. J., Hunter, D. J., Imyanitov, E. N., Isaacs, C., Jakimovska, M., Jakubowska, A., James, P., Janavicius, R., Janni, W., John, E. M., Jones, M. E., Jung, A., Kaaks, R., Karlan, B. Y., Khusnutdinova, E., Kitahara, C. M., Konstantopoulou, I., Koutros, S., Kraft, P., Lambrechts, D., Lazaro, C., Le Marchand, L., Lester, J., Lesueur, F., Lilyquist, J., Loud, J. T., Lu, K. H., Luben, R. N., Lubinski, J., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martens, J. W. M., Maurer, T., Mavroudis, D., Mebirouk, N., Meindl, A., Menon, U., Miller, A., Montagna, M., Nathanson, K. L., Neuhausen, S. L., Newman, W. G., Nguyen-Dumont, T., Nielsen, F. C., Nielsen, S., Nikitina-Zake, L., Offit, K., Olah, E., Olopade, O. I., Olshan, A. F., Olson, J. E., Olsson, H., Osorio, A., Ottini, L., Peissel, B., Peixoto, A., Peto, J., Plaseska-Karanfilska, D., Pocza, T., Presneau, N., Pujana, M. A., Punie, K., Rack, B., Rantala, J., Rashid, M. U., Rau-Murthy, R., Rennert, G., Lejbkowicz, F., Rhenius, V., Romero, A., Rookus, M. A., Ross, E. A., Rossing, M., Rudaitis, V., Ruebner, M., Saloustros, E., Sanden, K., Santamariña, M., Scheuner, M. T., Schmutzler, R. K., Schneider, M., Scott, C., Senter, L., Shah, M., Sharma, P., Shu, X.-O., Simard, J., Singer, C. F., Sohn, C., Soucy, P., Southey, M. C., Spinelli, J. J., Steele, L., Stoppa-Lyonnet, D., Tapper, W. J., Teixeira, M. R., Terry, M. B., Thomassen, M., Thompson, J., Thull, D. L., Tischkowitz, M., Tollenaar, R. A. E. M., Torres, D., Troester, M. A., Truong, T., Tung, N., Untch, M., Vachon, C. M., van Rensburg, E. J., van Veen, E. M., Vega, A., Viel, A., Wappenschmidt, B., Weitzel, J. N., Wendt, C., Wieme, G., Wolk, A., Yang, X. R., Zheng, W., Ziogas, A., Zorn, K. K., Dunning, A. M., Lush, M., Wang, Q., McGuffog, L., Parsons, M. T., Pharoah, P. D. P., Fostira, F., Toland, A. E., Andrulis, I. L., Ramus, S. J., Swerdlow, A. J., Greene, M. H., Chung, W. K., Milne, R. L., Chenevix-Trench, G., Dörk, T., Schmidt, M. K., Easton, D. F., Radice, P., Hahnen, E., Antoniou, A. C., Couch, F. J., Nevanlinna, H. & Peterlongo, P., 2019, In: npj Breast Cancer. 5

Research output: Contribution to journal › Article › Research › peer-review

Open Access

26 Citations (Scopus)

Whole exome sequencing and functional studies for Fanconi anemia diagnostics

Bogliolo, M., Aza-Carmona, M., Munoz Subirana, N., Pujol, R., Casado, J., Garcia, F., Paprotka, T., Bauser, C., Dopazo, J., Bueren, J. & Surralles, J., Oct 2019, In: European Journal of Human Genetics. 27, p. 1375-1375 1 p.

Research output: Contribution to journal › Article › Research › peer-review

Whole exome sequencing in non-obstructive azoospermia allows the identification of a high-risk subgroup of infertile men for undiagnosed Fanconi Anemia, a cancer-prone disease

Krausz, C., Riera-Escamilla, A., Chianese, C., Moreno-Mendoza, D., Rajmil, O., Bogliolo, M., Blanco, I., Ars, E., Ruiz-Castane, E. & Surralles, J., Jul 2019, In: European Journal of Human Genetics. 27, p. 4-4 1 p.

Research output: Contribution to journal › Article › Research › peer-review

2018

Biallelic truncating FANCM mutations cause early-onset cancer but not Fanconi anemia

Bogliolo, M., Bluteau, D., Lespinasse, J., Pujol, R., Vasquez, N., d'Enghien, C. D., Stoppa-Lyonnet, D., Leblanc, T., Soulier, J. & Surralles, J., Apr 2018, In: Genetics in Medicine. 20, 4, p. 458-463 6 p.

Research output: Contribution to journal › Article › Research › peer-review

54 Citations (Scopus)

Decapping protein EDC4 regulates DNA repair and phenocopies BRCA1

Hernández, G., Ramírez, M. J., Minguillón, J., Quiles, P., Ruiz De Garibay, G., Aza-Carmona, M., Bogliolo, M., Pujol, R., Prados-Carvajal, R., Fernández, J., García, N., López, A., Gutiérrez-Enríquez, S., Diez, O., Benítez, J., Salinas, M., Teulé, A., Brunet, J., Radice, P. & Peterlongo, P. & 7 others, Schindler, D., Huertas, P., Puente, X. S., Lázaro, C., Pujana, M. À., Surrallés, J. & Minguillon Pedreño, J., 1 Dec 2018, In: Nature Communications. 9, 967.

Research output: Contribution to journal › Article › Research

32 Citations (Scopus)

Erratum: Mutations in TOP3A Cause a Bloom Syndrome-like Disorder (The American Journal of Human Genetics (2018) 103(2) (221–231), (S0002929718302283) (10.1016/j.ajhg.2018.07.001))

6 Sept 2018, In: American Journal of Human Genetics. 103, 3, p. 456 1 p.

Research output: Contribution to journal › Article › Research › peer-review

Open Access

7 Citations (Scopus)

Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

1 Apr 2018, In: Genetics in Medicine. 20, 4, p. 452-457 6 p.

Research output: Contribution to journal › Article › Research › peer-review

61 Citations (Scopus)

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Martin, C. A., Sarlós, K., Logan, C. V., Thakur, R. S., Parry, D. A., Bizard, A. H., Leitch, A., Cleal, L., Ali, N. S., Al-Owain, M. A., Allen, W., Altmüller, J., Aza-Carmona, M., Barakat, B. A. Y., Barraza-García, J., Begtrup, A., Bogliolo, M., Cho, M. T., Cruz-Rojo, J. & Dhahrabi, H. A. M. & 31 others, Elcioglu, N. H., Gorman, G. S., Jobling, R., Kesterton, I., Kishita, Y., Kohda, M., Le Quesne Stabej, P., Malallah, A. J., Nürnberg, P., Ohtake, A., Okazaki, Y., Pujol, R., Ramirez, M. J., Revah-Politi, A., Shimura, M., Stevens, P., Taylor, R. W., Turner, L., Williams, H., Wilson, C., Yigit, G., Zahavich, L., Alkuraya, F. S., Surralles, J., Iglesias, A., Murayama, K., Wollnik, B., Dattani, M., Heath, K. E., Hickson, I. D. & Jackson, A. P., 2 Aug 2018, In: American Journal of Human Genetics. 103, p. 221-231

Research output: Contribution to journal › Article › Research › peer-review

56 Citations (Scopus)

NHEJ-mediated gene editing phenotypically corrects Fanconi anemia A patients' haematopoietic stem and progenitor cells

Roman-Rodriguez, F. J., Ugalde, L., Alvarez, L., Diez, B., Bogliolo, M., Rodriguez-Perales, S., Surralles, J., Torres-Ruiz, R., Bueren, J. A. & Rio, P., 1 Dec 2018, In: Human Gene Therapy. 29, 12, p. A103-A104 2 p.

Research output: Contribution to journal › Article › Research › peer-review

2015

Activation of the Fanconi anemia/BRCA pathway at low doses of ionization radiation

Bosch, P. C., Bogliolo, M. & Surrallés, J., 1 Nov 2015, In: Mutation Research - Genetic Toxicology and Environmental Mutagenesis. 793, p. 9-13

Research output: Contribution to journal › Article › Research › peer-review

4 Citations (Scopus)

FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Peterlongo, P., Catucci, I., Colombo, M., Caleca, L., Mucaki, E., Bogliolo, M., Marin, M., Damiola, F., Bernard, L., Pensotti, V., Volorio, S., Dall'Olio, V., Meindl, A., Bartram, C., Sutter, C., Surowy, H., Sornin, V., Dondon, M. G., Eon-Marchais, S. & Stoppa-Lyonnet, D. & 76 others, Andrieu, N., Sinilnikova, O. M., Mitchell, G., James, P. A., Thompson, E., Marchetti, M., Verzeroli, C., Tartari, C., Capone, G. L., Putignano, A. L., Genuardi, M., Medici, V., Marchi, I., Federico, M., Tognazzo, S., Matricardi, L., Agata, S., Dolcetti, R., Puppa, L. D., Cini, G., Gismondi, V., Viassolo, V., Perfumo, C., Mencarelli, M. A., Baldassarri, M., Peissel, B., Roversi, G., Silvestri, V., Rizzolo, P., Spina, F., Vivanet, C., Tibiletti, M. G., Caligo, M. A., Gambino, G., Tommasi, S., Pilato, B., Tondini, C., Corna, C., Bonanni, B., Barile, M., Osorio, A., Benitez, J., Balestrino, L., Ottini, L., Manoukian, S., Pierotti, M. A., Renieri, A., Varesco, L., Couch, F. J., Wang, X., Devilee, P., Hilbers, F. S., van Asperen, C. J., Viel, A., Montagna, M., Cortesi, L., Diez, O., Balmaña, J., Hauke, J., Schmutzler, R. K., Papi, L., Pujana, M. A., Lázaro, C., Falanga, A., Offit, K., Vijai, J., Campbell, I., Burwinkel, B., Kvist, A., Ehrencrona, H., Mazoyer, S., Pizzamiglio, S., Verderio, P., Surralles, J., Rogan, P. K. & Radice, P., 9 Apr 2015, In: Human Molecular Genetics. 24, 18, p. 5345-5355

Research output: Contribution to journal › Article › Research › peer-review

72 Citations (Scopus)

Fanconi anemia: A model disease for studies on human genetics and advanced therapeutics

Bogliolo, M. & Surrallés, J., 1 Aug 2015, In: Current Opinion in Genetics and Development. 33, p. 32-40

Research output: Contribution to journal › Review article › Research › peer-review

147 Citations (Scopus)

2013

Evaluation of Rare Variants in the New Fanconi Anemia Gene ERCC4 (FANCQ) as Familial Breast/Ovarian Cancer Susceptibility Alleles

Osorio, A., Bogliolo, M., Fernández, V., Barroso, A., de la Hoya, M., Caldés, T., Lasa, A., Ramón y Cajal, T., Santamariña, M., Vega, A., Quiles, F., Lázaro, C., Díez, O., Fernández, D., González-Sarmiento, R., Durán, M., Piqueras, J. F., Marín, M., Pujol, R. & Surrallés, J. & 1 others, Benítez, J., 1 Dec 2013, In: Human Mutation. 34, p. 1615-1618

Research output: Contribution to journal › Article › Research › peer-review

30 Citations (Scopus)

Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia

Bogliolo, M., Schuster, B., Stoepker, C., Derkunt, B., Su, Y., Raams, A., Trujillo, J. P., Minguillón, J., Ramírez, M. J., Pujol, R., Casado, J. A., Baños, R., Rio, P., Knies, K., Zúñiga, S., Benítez, J., Bueren, J. A., Jaspers, N. G. J., Schärer, O. D. & De Winter, J. P. & 3 others, Schindler, D., Surrallés, J. & Minguillon Pedreño, J., 2 May 2013, In: American Journal of Human Genetics. 92, p. 800-806

Research output: Contribution to journal › Article › Research › peer-review

Open Access

260 Citations (Scopus)

2012

On the role of FAN1 in Fanconi anemia

Trujillo, J. P., Mina, L. B., Pujol, R., Bogliolo, M., Andrieux, J., Holder, M., Schuster, B., Schindler, D. & Surrallés, J., 5 Jul 2012, In: Blood. 120, p. 86-89

Research output: Contribution to journal › Article › Research › peer-review

Open Access

30 Citations (Scopus)

2011

Coordinated action of the Fanconi anemia and ataxia telangiectasia pathways in response to oxidative damage

Castillo, P., Bogliolo, M. & Surralles, J., 5 May 2011, In: DNA Repair. 10, 5, p. 518-525

Research output: Contribution to journal › Article › Research › peer-review

22 Citations (Scopus)

Exploring the link between MORF4L1 and risk of breast cancer

Martrat, G., Maxwell, C. A., Tominaga, E., Porta-de-la-Riva, M., Bonifaci, N., Gómez-Baldó, L., Bogliolo, M., Lázaro, C., Blanco, I., Brunet, J., Aguilar, H., Fernández-Rodríguez, J., Seal, S., Renwick, A., Rahman, N., Kühl, J., Neveling, K., Schindler, D., Ramírez, M. J. & Castellà, M. & 81 others, Hernández, G., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Platte, R., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Davidson, R., Ong, K. R., Cook, J., Douglas, F., Hodgson, S., Brewer, C., Morrison, P. J., Porteous, M., Peterlongo, P., Manoukian, S., Peissel, B., Zaffaroni, D., Roversi, G., Barile, M., Viel, A., Pasini, B., Ottini, L., Putignano, A. L., Savarese, A., Bernard, L., Radice, P., Healey, S., Spurdle, A., Chen, X., Beesley, J., Rookus, M. A., Verhoef, S., Tilanus-Linthorst, M. A., Vreeswijk, M. P., Asperen, C. J., Bodmer, D., Ausems, M. G. E. M., van Os, T. A., Blok, M. J., Meijers-Heijboer, H. E. J., Hogervorst, F. B. L., Goldgar, D. E., Buys, S., John, E. M., Miron, A., Southey, M., Daly, M. B., Harbst, K., Borg, Å., Rantala, J., Barbany-Bustinza, G., Ehrencrona, H., Stenmark-Askmalm, M., Kaufman, B., Laitman, Y., Milgrom, R., Friedman, E., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Johannsson, O. T., Couch, F. J., Wang, X., Fredericksen, Z., Cuadras, D., Moreno, V., Pientka, F. K., Depping, R., Caldés, T., Osorio, A., Benítez, J., Bueren, J., Heikkinen, T. & Surralles Calonge, J., 5 Apr 2011, In: Breast Cancer Research. 13, R40.

Research output: Contribution to journal › Article › Research › peer-review

19 Citations (Scopus)

The FANC pathway is activated by adenovirus infection and promotes viral replication-dependent recombination

Cherubini, G., Naim, V., Caruso, P., Burla, R., Bogliolo, M., Cundari, E., Benihoud, K., Saggio, I. & Rosselli, F., 1 Jul 2011, In: Nucleic Acids Research. 39, 13, p. 5459-5473

Research output: Contribution to journal › Article › Research › peer-review

11 Citations (Scopus)

2007

Histone H2AX and Fanconi anemia FANCD2 function in the same pathway to maintain chromosome stability

Bogliolo, M., Lyakhovich, A., Callén, E., Castellà, M., Cappelli, E., Ramírez, M. J., Creus, A., Marcos, R., Kalb, R., Neveling, K., Schindler, D. & Surrallés, J., 7 Mar 2007, In: EMBO Journal. 26, p. 1340-1351 12 p.

Research output: Contribution to journal › Article › Research › peer-review

113 Citations (Scopus)

2006

The Fanconi Anemia/BRCA Pathway

Bogliolo, M. & Surrallés, J., 2006, 4 p.

Research output: Other contribution

2005

3R coordination by Fanconi anemia proteins

Macé, G., Bogliolo, M., Guervilly, J.-H., Villard, J. A. D. D. & Rosselli, F., Jul 2005, In: Biochimie. 87, 7, p. 647-658 12 p.

Research output: Contribution to journal › Article › Research › peer-review

20 Citations (Scopus)

2004

The Fanconi Anemia/BRCA pathway: FANCD2 at the crossroad between repair and checkpoint response to DNA damage

Bogliolo, M. & Surrallés, J., 1 Jan 2004, DNA Repair and Human Diseases. Landes Bioscience Ed. (ed.). 1 ed. (US), p. -

Research output: Chapter in Book › Chapter › Research

2003

Drosophila S3 ribosomal protein accelerates repair of 8-oxoguanine performed by human and mouse cell extracts

Cappelli, E., D'Osualdo, A., Bogliolo, M., Kelley, M. R. & Frosina, G., 2003, In: Environ. Mol. Mutagen.. 42, 1, p. 50-58 9 p.

Research output: Contribution to journal › Article › Research › peer-review

11 Citations (Scopus)

Effect of S. cerevisiae APN1 Protein on Mammalian DNA Base Excision Repair

Bogliolo, M., Cappelli, E., D'Osualdo, A., Rossi, O., Barbieri, O., Kelley, M. R. & Frosina, G., 2003, In: Anticancer Research. 23, 5a, p. 3727–3734 8 p.

Research output: Contribution to journal › Article › Research › peer-review

2 Citations (Scopus)

Repair of 8 oxoguanine in mammalian cells expressing the Drosophila S3 ribosomal/repair protein

Cappelli, E., D'Osualdo, A., Bogliolo, M., Xu, Y., Kelley, M. R. & Frosina, G., 2003, In: Teratog. Carcinog. Mutagen.. 23, s1, p. 113–121 9 p.

Research output: Contribution to journal › Article › Research › peer-review

2 Citations (Scopus)

2002

Alternative metabolic pathways for energy supply and resistance to apoptosis in Fanconi anaemia

Bogliolo, M., 1 Jan 2002, In: Mutagenesis. 17, 1, p. 25–30 6 p.

Research output: Contribution to journal › Article › Research › peer-review

22 Citations (Scopus)

The fanconi anaemia genome stability and tumour suppressor network

Bogliolo, M., Cabré, O., Callén, E., Castillo, V., Creus, A., Marcos, R. & Surrallés, J., 1 Nov 2002, In: Mutagenesis. 17, 6, p. 529-538

Research output: Contribution to journal › Review article › Research › peer-review

49 Citations (Scopus)

The Fanconi anemia genome stability and tumour suppressor network

Bogliolo, M., Cabré, O., Callén, E., Castillo, V., Creus, A., Marcos, R. & Surrallés, J., 1 Jan 2002, In: Mutagenesis. 6, 17, p. 529-538

Research output: Contribution to journal › Article › Research › peer-review

49 Citations (Scopus)

2000

Reduced ligation during DNA base excision repair supported by BRCA2 mutant cells

Bogliolo, M., Taylor, R. M., Caldecott, K. W. & Frosina, G., Nov 2000, In: Oncogene. 19, 50, p. 5781-5787 7 p.

Research output: Contribution to journal › Article › Research › peer-review

19 Citations (Scopus)

1999

Detection of the `4977 bp' mitochondrial DNA deletion in human atherosclerotic lesions

Bogliolo, M., 1 Jan 1999, In: Mutagenesis. 14, 1, p. 77–82 6 p.

Research output: Contribution to journal › Article › Research › peer-review

37 Citations (Scopus)

1998

p53 Mutations and DNA ploidy in colorectal adenocarcinomas

Campomenosi, P., Assereto, P., Bogliolo, M., Fronza, G., Abbondandolo, A., Capasso, A., Bellomo, P. F., Monaco, R., Rapallo, A., Sciutto, A., Orecchia, R., Geido, E. & Giaretti, W., 1998, In: Analytical Cellular Pathology. 17, 13 p.

Research output: Contribution to journal › Article › Research › peer-review

17 Citations (Scopus)

1997

Heterogeneous p53 mutations in a Burkitt lymphoma from an AIDS patient with monoclonal c-myc and VDJ rearrangements

Campomenosi, P., Fronza, G., Ottaggio, L., Roncella, S., Inga, A., Bogliolo, M., Monti, P., Assereto, P., Moro, F., Cutrona, G., Bozzo, S., Chiorazzi, N., Abbondandolo, A. & Ferrarini, M., 1997, In: International Journal of Cancer. 73, 6, p. 816–821 6 p.

Research output: Contribution to journal › Article › Research › peer-review

6 Citations (Scopus)

1996

Lack of mutations in K-ras codons 12 and 13 in human atherosclerotic lesions

Bogliolo, M., Fronza, G., Campomenosi, P., Assereto, P., Izzotti, A., Petrilli, G. L., Abbondandolo, A. & Flora, S. D., Sept 1996, In: Chemico-Biological Interactions. 102, 1, p. 55-62 8 p.

Research output: Contribution to journal › Article › Research › peer-review

5 Citations (Scopus)

p53 is frequently mutated in Barrett's metaplasia of the intestinal type.

Campomenosi, P., Conio, M., Bogliolo, M., Urbini, S., Assereto, P., Aprile, A., Monti, P., Aste, H., Lapertosa, G., Inga, A., Abbondandolo, A. & Fronza, G., Jul 1996, In: Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 5, 7, p. 559-565 7 p.

Research output: Contribution to journal › Article › Research › peer-review

46 Citations (Scopus)

Massimo Bogliolo

Research output

Search results