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2. Association of head and neck cancer with esophageal squamous cell carcinoma

Author

El Maimouni, C., additional, Cordova, H., additional, Ruiz, S. Feliz, additional, Ruiz, L. Moreira, additional, Sánchez, L. Rivero, additional, Delgado-Guillena, P. G., additional, Garcia, O. Sendino, additional, González-Suárez, B., additional, Araujo, I. K., additional, Fernandez-Simon, A., additional, Ramil, S. Carballal, additional, Llach, J., additional, Pellisé, M., additional, Balaguer, F., additional, and Fernandez-Esparrach, G., additional

Published
2024
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3. Evaluation of Artificial Intelligence-Assisted Colonoscopy for Adenoma Detection in Lynch Syndrome: a multicentre randomized controlled trial (Timely study)

Author

Ortiz, O., additional, Rivero-Sánchez, L., additional, Gimeno-Garcia, A., additional, Vicente, J. Lopez, additional, Martínez, R. Jover, additional, Ricciardiello, L., additional, Puig, I., additional, Huneburg, R., additional, Herraiz Bayod, M. T., additional, Abalos, J. Gordillo, additional, Daca-Alvarez, M., additional, Tejpar, S., additional, Bisschops, R., additional, Repici, A., additional, Herrero, J., additional, David, R., additional, Cid, L., additional, Alvarez, V., additional, Romero, C., additional, Huerta, A., additional, Betes, M. T., additional, Riu, F., additional, Carrillo, M., additional, Cavestro, G. M., additional, Balaguer, F., additional, and Pellisé, M., additional

Published
2024
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5. Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

Author

Dominguez-Valentin, M, Haupt, S, Seppälä, T, Sampson, J, Sunde, L, Bernstein, I, Jenkins, M, Engel, C, Aretz, S, Nielsen, M, Capella, G, Balaguer, F, Evans, D, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, J, Sijmons, R, Laghi, L, Della Valle, A, Heinimann, K, Dębniak, T, Fruscio, R, Lopez-Koestner, F, Alvarez-Valenzuela, K, Katz, L, Laish, I, Vainer, E, Vaccaro, C, Carraro, D, Monahan, K, Half, E, Stakelum, A, Winter, D, Kennelly, R, Gluck, N, Sheth, H, Abu-Freha, N, Greenblatt, M, Rossi, B, Bohorquez, M, Cavestro, G, Lino-Silva, L, Horisberger, K, Tibiletti, M, Nascimento, I, Thomas, H, Rossi, N, Apolinário da Silva, L, Zaránd, A, Ruiz-Bañobre, J, Heuveline, V, Mecklin, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Therkildsen, C, Madsen, M, Burgdorf, S, Hopper, J, Win, A, Haile, R, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, P, Figueiredo, J, Buchanan, D, Thibodeau, S, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Schröck, E, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Hüneburg, R, Redler, S, Büttner, R, Weitz, J, Pineda, M, Duenas, N, Vidal, J, Moreira, L, Sánchez, A, Hovig, E, Nakken, S, Green, K, Lalloo, F, Hill, J, Crosbie, E, Mints, M, Goldberg, Y, Dominguez-Valentin M., Haupt S., Seppälä T. T., Sampson J. R., Sunde L., Bernstein I., Jenkins M. A., Engel C., Aretz S., Nielsen M., Capella G., Balaguer F., Evans D. G., Burn J., Holinski-Feder E., Bertario L., Bonanni B., Lindblom A., Levi Z., Macrae F., Winship I., Plazzer J. P., Sijmons R., Laghi L., Della Valle A., Heinimann K., Dębniak T., Fruscio R., Lopez-Koestner F., Alvarez-Valenzuela K., Katz L. H., Laish I., Vainer E., Vaccaro C., Carraro D. M., Monahan K., Half E., Stakelum A., Winter D., Kennelly R., Gluck N., Sheth H., Abu-Freha N., Greenblatt M., Rossi B. M., Bohorquez M., Cavestro G. M., Lino-Silva L. S., Horisberger K., Tibiletti M. G., Nascimento I. d., Thomas H., Rossi N. T., Apolinário da Silva L., Zaránd A., Ruiz-Bañobre J., Heuveline V., Mecklin J. P., Pylvänäinen K., Renkonen-Sinisalo L., Lepistö A., Peltomäki P., Therkildsen C., Madsen M. G., Burgdorf S. K., Hopper J. L., Win A. K., Haile R. W., Lindor N., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J., Buchanan D. D., Thibodeau S. N., von Knebel Doeberitz M., Loeffler M., Rahner N., Schröck E., Steinke-Lange V., Schmiegel W., Vangala D., Perne C., Hüneburg R., Redler S., Büttner R., Weitz J., Pineda M., Duenas N., Vidal J. B., Moreira L., Sánchez A., Hovig E., Nakken S., Green K., Lalloo F., Hill J., Crosbie E., Mints M., Goldberg Y., Dominguez-Valentin, M, Haupt, S, Seppälä, T, Sampson, J, Sunde, L, Bernstein, I, Jenkins, M, Engel, C, Aretz, S, Nielsen, M, Capella, G, Balaguer, F, Evans, D, Burn, J, Holinski-Feder, E, Bertario, L, Bonanni, B, Lindblom, A, Levi, Z, Macrae, F, Winship, I, Plazzer, J, Sijmons, R, Laghi, L, Della Valle, A, Heinimann, K, Dębniak, T, Fruscio, R, Lopez-Koestner, F, Alvarez-Valenzuela, K, Katz, L, Laish, I, Vainer, E, Vaccaro, C, Carraro, D, Monahan, K, Half, E, Stakelum, A, Winter, D, Kennelly, R, Gluck, N, Sheth, H, Abu-Freha, N, Greenblatt, M, Rossi, B, Bohorquez, M, Cavestro, G, Lino-Silva, L, Horisberger, K, Tibiletti, M, Nascimento, I, Thomas, H, Rossi, N, Apolinário da Silva, L, Zaránd, A, Ruiz-Bañobre, J, Heuveline, V, Mecklin, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Therkildsen, C, Madsen, M, Burgdorf, S, Hopper, J, Win, A, Haile, R, Lindor, N, Gallinger, S, Le Marchand, L, Newcomb, P, Figueiredo, J, Buchanan, D, Thibodeau, S, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Schröck, E, Steinke-Lange, V, Schmiegel, W, Vangala, D, Perne, C, Hüneburg, R, Redler, S, Büttner, R, Weitz, J, Pineda, M, Duenas, N, Vidal, J, Moreira, L, Sánchez, A, Hovig, E, Nakken, S, Green, K, Lalloo, F, Hill, J, Crosbie, E, Mints, M, Goldberg, Y, Dominguez-Valentin M., Haupt S., Seppälä T. T., Sampson J. R., Sunde L., Bernstein I., Jenkins M. A., Engel C., Aretz S., Nielsen M., Capella G., Balaguer F., Evans D. G., Burn J., Holinski-Feder E., Bertario L., Bonanni B., Lindblom A., Levi Z., Macrae F., Winship I., Plazzer J. P., Sijmons R., Laghi L., Della Valle A., Heinimann K., Dębniak T., Fruscio R., Lopez-Koestner F., Alvarez-Valenzuela K., Katz L. H., Laish I., Vainer E., Vaccaro C., Carraro D. M., Monahan K., Half E., Stakelum A., Winter D., Kennelly R., Gluck N., Sheth H., Abu-Freha N., Greenblatt M., Rossi B. M., Bohorquez M., Cavestro G. M., Lino-Silva L. S., Horisberger K., Tibiletti M. G., Nascimento I. d., Thomas H., Rossi N. T., Apolinário da Silva L., Zaránd A., Ruiz-Bañobre J., Heuveline V., Mecklin J. P., Pylvänäinen K., Renkonen-Sinisalo L., Lepistö A., Peltomäki P., Therkildsen C., Madsen M. G., Burgdorf S. K., Hopper J. L., Win A. K., Haile R. W., Lindor N., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J., Buchanan D. D., Thibodeau S. N., von Knebel Doeberitz M., Loeffler M., Rahner N., Schröck E., Steinke-Lange V., Schmiegel W., Vangala D., Perne C., Hüneburg R., Redler S., Büttner R., Weitz J., Pineda M., Duenas N., Vidal J. B., Moreira L., Sánchez A., Hovig E., Nakken S., Green K., Lalloo F., Hill J., Crosbie E., Mints M., and Goldberg Y.

Abstract

Background: The Prospective Lynch Syndrome Database (PLSD) collates information on carriers of pathogenic or likely pathogenic MMR variants (path_MMR) who are receiving medical follow-up, including colonoscopy surveillance, which aims to the achieve early diagnosis and treatment of cancers. Here we use the most recent PLSD cohort that is larger and has wider geographical representation than previous versions, allowing us to present mortality as an outcome, and median ages at cancer diagnoses for the first time. Methods: The PLSD is a prospective observational study without a control group that was designed in 2012 and updated up to October 2022. Data for 8500 carriers of path_MMR variants from 25 countries were included, providing 71,713 years of follow up. Cumulative cancer incidences at 65 years of age were combined with 10-year crude survival following cancer, to derive estimates of mortality up to 75 years of age by organ, gene, and gender. Findings: Gynaecological cancers were more frequent than colorectal cancers in path_MSH2, path_MSH6 and path_PMS2 carriers [cumulative incidence: 53.3%, 49.6% and 23.3% at 75 years, respectively]. Endometrial, colon and ovarian cancer had low mortality [8%, 13% and 15%, respectively] and prostate cancers were frequent in male path_MSH2 carriers [cumulative incidence: 39.7% at 75 years]. Pancreatic, brain, biliary tract and ureter and kidney and urinary bladder cancers were associated with high mortality [83%, 66%, 58%, 27%, and 29%, respectively]. Among path_MMR carriers undergoing colonoscopy surveillance, particularly path_MSH2 carriers, more deaths followed non-colorectal Lynch syndrome cancers than colorectal cancers. Interpretation: In path_MMR carriers undergoing colonoscopy surveillance, non-colorectal Lynch syndrome cancers were associated with more deaths than were colorectal cancers. Reducing deaths from non-colorectal cancers presents a key challenge in contemporary medical care in Lynch syndrome. Funding: We ackno

Published
2023

7. Familial component of early-onset colorectal cancer: opportunity for prevention

Author

Daca-Alvarez, M., Marti, M., Spinelli, A., Miranda, N.F.F.C. de, Palles, C., Vivas, A., Lachtford, A., Monahan, K., Szczepkowski, M., Tarnowski, W., Makkai-Popa, S.T., Vidal, R., Lopez, I., Hurtado, E., Jimenez, F., Jimenez-Toscano, M., Alvaro, E., Sanz, G., Ballestero, A., Melone, S., Brandariz, L., Prieto, I., Garcia-Olmo, D., Ocana, T., Moreira, R., Moreno, L., Carballal, S., Moreira, L., Pellise, M., Gonzalez-Sarmiento, R., Holowatyj, A.N., Perea, J., Balaguer, F., GEOCODE Consortium, SECOC Consortium, Instituto de Salud Carlos III, Generalitat de Catalunya, and Centro de Investigación Biomédica en Red Enfermedades Hepáticas y Digestivas (España)

Subjects
Humans, Surgery, Colonoscopy, Middle Aged, Colorectal Neoplasms, Endoscopy, Gastrointestinal
Abstract

[Background]: Individuals with a non-syndromic family history of colorectal cancer are known to have an increased risk. There is an opportunity to prevent early-onset colorectal cancer (age less than 50 years) (EOCRC) in this population. The aim was to explore the proportion of EOCRC that is preventable due to family history of colorectal cancer. [Methods]: This was a retrospective multicentre European study of patients with non-hereditary EOCRC. The impact of the European Society of Gastrointestinal Endoscopy (ESGE), U.S. Multi-Society Task Force (USMSTF), and National Comprehensive Cancer Network (NCCN) guidelines on prevention and early diagnosis was compared. Colorectal cancer was defined as potentially preventable if surveillance colonoscopy would have been performed at least 5 years before the age of diagnosis of colorectal cancer, and diagnosed early if colonoscopy was undertaken between 1 and 4 years before the diagnosis. [Results]: Some 903 patients with EOCRC were included. Criteria for familial colorectal cancer risk in ESGE, USMSTF, and NCCN guidelines were met in 6.3, 9.4, and 30.4 per cent of patients respectively. Based on ESGE, USMSTF, and NCCN guidelines, colorectal cancer could potentially have been prevented in 41, 55, and 30.3 per cent of patients, and diagnosed earlier in 11, 14, and 21.1 per cent respectively. In ESGE guidelines, if surveillance had started 10 years before the youngest relative, there would be a significant increase in prevention (41 versus 55 per cent; P = 0.010). [Conclusion]: ESGE, USMSTF, and NCCN criteria for familial colorectal cancer were met in 6.3, 9.4, and 30.4 per cent of patients with EOCRC respectively. In these patients, early detection and/or prevention could be achieved in 52, 70, and 51.4 per cent respectively. Early and accurate identification of familial colorectal cancer risk and increase in the uptake of early colonoscopy are key to decreasing familial EOCRC., This study was funded by Instituto de Salud Carlos III through project PI20/0974 to J.P and PI19/01867 to F.B. (co-funded by European Regional Development Fund ‘A way to make Europe’); and Agència de Gestió d’Ajuts Universitaris i de Recerca (Generalitat de Catalunya, GRC 2017SGR653). Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas is funded by the Instituto de Salud Carlos III.

Published
2022

8. Agroforestry in the European common agricultural policy

Author

Mosquera-Losada, M. R., Santiago-Freijanes, J. J., Pisanelli, A., Rois-Díaz, M., Smith, J., den Herder, M., Moreno, G., Ferreiro-Domínguez, N., Malignier, N., Lamersdorf, N., Balaguer, F., Pantera, A., Rigueiro-Rodríguez, A., Aldrey, J. A., González-Hernández, M. P., Fernández-Lorenzo, J. L., Romero-Franco, R., and Burgess, P. J.

Published
2018
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9. Abdominal desmoid tumours after colectomy and ileorectal anastomosis versus proctocolectomy and ileal pouch-anal anastomosis in familial adenomatous polyposis

Author

Aelvoet, A., additional, Pellisé, M., additional, Miedema, T., additional, Bastiaansen, B.A. J., additional, Van Leerdam, M., additional, Jover, R., additional, Balaguer, F., additional, Kaminski, M. F., additional, Hompes, R., additional, Bossuyt, P.M. M., additional, Ricciardiello, L., additional, Karstensen, J. G., additional, Latchford, A., additional, and Dekker, E., additional

Published
2023
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10. Risk of cancer following colectomy with ileorectal/ileosigmoidal anastomosis and proctocolectomy with ileal pouch-anal anastomosis in familial adenomatous polyposis

Author

Bouchiba, H., additional, Aelvoet, A. S., additional, Pellisé, M., additional, Bastiaansen, B.A. J., additional, Van Leerdam, M. E., additional, Balaguer, F., additional, Kaminski, M. F., additional, Hompes, R., additional, Bossuyt, P.M. M., additional, Ricciardiello, L., additional, Jover, R., additional, Karstensen, J. G., additional, Latchford, A., additional, and Dekker, E., additional

Published
2023
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13. Cold snare polypectomy for duodenal adenomas in familial adenomatous polyposis: a prospective international cohort study

Author

Aelvoet, A., additional, Karstensen, J. G., additional, Bastiaansen, B.A. J., additional, Van Leerdam, M., additional, Balaguer, F., additional, Kaminski, M. F., additional, Hompes, R., additional, Bossuyt, P.M. M., additional, Ricciardiello, L., additional, Latchford, A., additional, Jover, R., additional, Daca-Alvarez, M., additional, Pellisé, M., additional, and Dekker, E., additional

Published
2023
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14. T.02.1 DELPHI INITIATIVE FOR EARLY-ONSET COLORECTAL CANCER (DIRECT): INTERNATIONAL MANAGEMENT GUIDELINES

Author

Cavestro, G.M., primary, Mannucci, A., additional, Balaguer, F., additional, Heather, H., additional, Kupfer, S., additional, Repici, A., additional, Sartore-Bianchi, A., additional, Seppala, T., additional, Valentini, V., additional, Boland, C., additional, Brand, R., additional, Buffart, T., additional, Burke, C., additional, Caccialanza, R., additional, Cannizzaro, R., additional, Cascinu, S., additional, Cercek, A., additional, Crosbie, E., additional, Danese, S., additional, Dekker, E., additional, Daca-Alvarez, M., additional, Deni, F., additional, Latchford, A., additional, Liska, D., additional, Lynch, P., additional, Malesci, A., additional, Mauri, G., additional, Meldolesi, E., additional, Pal, M., additional, Monahan, K., additional, Moslein, G., additional, Murphy, C., additional, Nass, K., additional, Ng, K., additional, Oliani, C., additional, Papaleo, E., additional, Patel, S., additional, Puzzono, M., additional, Remo, A., additional, Ricciardiello, L., additional, Ripamonti, C., additional, Siena, S., additional, Singh, S., additional, Stadler, Z., additional, Stanich, P., additional, Syngal, S., additional, Turi, S., additional, Urso, E., additional, Valle, L., additional, Vanni, V., additional, Vilar, E., additional, Vitellaro, M., additional, You, Y., additional, Yurgelun, M., additional, Zuppardo, R., additional, and Stoffel, E., additional

Published
2023
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15. Germline mutations in WNK2 could be associated with serrated polyposis syndrome.

Author

Soares de Lima, Y., Arnau-Collell, C., Muñoz, J., Herrera-Pariente, C., Moreira, L., Ocaña, T., Díaz-Gay, M., Franch-Expósito, S., Cuatrecasas, M., Carballal, S., Lopez-Novo, A., Moreno, L., Fernàndez, G., Diaz de Bustamante, A., Peters, Sophia, Sommer, A.K., Spier, I., Paske, I.B.A.W. te, Herwaarden, Y.J. van, Castells, A., Bujanda, L., Capellà, G., Steinke-Lange, V., Mahmood, K., Joo, J.E., Arnold, J., Parry, S., Macrae, F.A., Winship, I.M., Rosty, C., Cubiella, J., Rodríguez-Alcalde, D., Holinski-Feder, E., Voer, R.M. de, Buchanan, D.D., Aretz, S., Ruiz-Ponte, C., Valle, L., Balaguer, F., Bonjoch, L., Castellvi-Bel, S., Soares de Lima, Y., Arnau-Collell, C., Muñoz, J., Herrera-Pariente, C., Moreira, L., Ocaña, T., Díaz-Gay, M., Franch-Expósito, S., Cuatrecasas, M., Carballal, S., Lopez-Novo, A., Moreno, L., Fernàndez, G., Diaz de Bustamante, A., Peters, Sophia, Sommer, A.K., Spier, I., Paske, I.B.A.W. te, Herwaarden, Y.J. van, Castells, A., Bujanda, L., Capellà, G., Steinke-Lange, V., Mahmood, K., Joo, J.E., Arnold, J., Parry, S., Macrae, F.A., Winship, I.M., Rosty, C., Cubiella, J., Rodríguez-Alcalde, D., Holinski-Feder, E., Voer, R.M. de, Buchanan, D.D., Aretz, S., Ruiz-Ponte, C., Valle, L., Balaguer, F., Bonjoch, L., and Castellvi-Bel, S.

Abstract

01 juni 2023, Item does not contain fulltext, BACKGROUND: Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors for SPS by functionally evaluating a candidate gene and replicating it in additional SPS cohorts. METHODS: After a previous whole-exome sequencing in 39 SPS patients from 16 families (discovery cohort), we sequenced specific genes in an independent validation cohort of 211 unrelated SPS cases. Additional external replication was also available in 297 SPS cases. The WNK2 gene was disrupted in HT-29 cells by gene editing, and WNK2 variants were transfected using a lentiviral delivery system. Cells were analysed by immunoblots, real-time PCR and functional assays monitoring the mitogen-activated protein kinase (MAPK) pathway, cell cycle progression, survival and adhesion. RESULTS: We identified 2 rare germline variants in the WNK2 gene in the discovery cohort, 3 additional variants in the validation cohort and 10 other variants in the external cohorts. Variants c.2105C>T (p.Pro702Leu), c.4820C>T (p.Ala1607Val) and c.6157G>A (p.Val2053Ile) were functionally characterised, displaying higher levels of phospho-PAK1/2, phospho-ERK1/2, CCND1, clonogenic capacity and MMP2. CONCLUSION: After whole-exome sequencing in SPS cases with familial aggregation and replication of results in additional cohorts, we identified rare germline variants in the WNK2 gene. Functional studies suggested germline WNK2 variants affect protein function in the context of the MAPK pathway, a molecular hallmark in this disease.

Published
2023

16. Germline mutations in WNK2 could be associated with serrated polyposis syndrome

Author

Soares de Lima, Y, Arnau-Collell, C, Munoz, J, Herrera-Pariente, C, Moreira, L, Ocana, T, Diaz-Gay, M, Franch-Exposito, S, Cuatrecasas, M, Carballal, S, Lopez-Novo, A, Moreno, L, Fernandez, G, Diaz de Bustamante, A, Peters, S, Sommer, AK, Spier, I, te Paske, IBAW, van Herwaarden, YJ, Castells, A, Bujanda, L, Capella, G, Steinke-Lange, V, Mahmood, K, Joo, JE, Arnold, J, Parry, S, Macrae, FA, Winship, IM, Rosty, C, Cubiella, J, Rodriguez-Alcalde, D, Holinski-Feder, E, de Voer, R, Buchanan, DD, Aretz, S, Ruiz-Ponte, C, Valle, L, Balaguer, F, Bonjoch, L, Castellvi-Bel, S, Soares de Lima, Y, Arnau-Collell, C, Munoz, J, Herrera-Pariente, C, Moreira, L, Ocana, T, Diaz-Gay, M, Franch-Exposito, S, Cuatrecasas, M, Carballal, S, Lopez-Novo, A, Moreno, L, Fernandez, G, Diaz de Bustamante, A, Peters, S, Sommer, AK, Spier, I, te Paske, IBAW, van Herwaarden, YJ, Castells, A, Bujanda, L, Capella, G, Steinke-Lange, V, Mahmood, K, Joo, JE, Arnold, J, Parry, S, Macrae, FA, Winship, IM, Rosty, C, Cubiella, J, Rodriguez-Alcalde, D, Holinski-Feder, E, de Voer, R, Buchanan, DD, Aretz, S, Ruiz-Ponte, C, Valle, L, Balaguer, F, Bonjoch, L, and Castellvi-Bel, S

Abstract

BACKGROUND: Patients with serrated polyposis syndrome (SPS) have multiple and/or large serrated colonic polyps and higher risk for colorectal cancer. SPS inherited genetic basis is mostly unknown. We aimed to identify new germline predisposition factors for SPS by functionally evaluating a candidate gene and replicating it in additional SPS cohorts. METHODS: After a previous whole-exome sequencing in 39 SPS patients from 16 families (discovery cohort), we sequenced specific genes in an independent validation cohort of 211 unrelated SPS cases. Additional external replication was also available in 297 SPS cases. The WNK2 gene was disrupted in HT-29 cells by gene editing, and WNK2 variants were transfected using a lentiviral delivery system. Cells were analysed by immunoblots, real-time PCR and functional assays monitoring the mitogen-activated protein kinase (MAPK) pathway, cell cycle progression, survival and adhesion. RESULTS: We identified 2 rare germline variants in the WNK2 gene in the discovery cohort, 3 additional variants in the validation cohort and 10 other variants in the external cohorts. Variants c.2105C>T (p.Pro702Leu), c.4820C>T (p.Ala1607Val) and c.6157G>A (p.Val2053Ile) were functionally characterised, displaying higher levels of phospho-PAK1/2, phospho-ERK1/2, CCND1, clonogenic capacity and MMP2. CONCLUSION: After whole-exome sequencing in SPS cases with familial aggregation and replication of results in additional cohorts, we identified rare germline variants in the WNK2 gene. Functional studies suggested germline WNK2 variants affect protein function in the context of the MAPK pathway, a molecular hallmark in this disease.

Published
2023

17. The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management

Author

Leoz ML, Carballal S, Moreira L, Ocaña T, and Balaguer F

Subjects
Medicine (General), R5-920, Genetics, QH426-470
Abstract

Maria Liz Leoz, Sabela Carballal, Leticia Moreira, Teresa Ocaña, Francesc Balaguer Department of Gastroenterology, Hospital Clínic, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Catalonia, Spain Abstract: Familial adenomatous polyposis (FAP) is an inherited disorder that represents the most common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were initially identified as responsible for FAP, and later, several studies have also implicated the MUTYH gene as responsible for this disease, usually referred to as MUTYH-associated polyposis (MAP). FAP and MAP are characterized by the early onset of multiple adenomatous colorectal polyps, a high lifetime risk of colorectal cancer (CRC), and in some patients the development of extracolonic manifestations. The goal of colorectal management in these patients is to prevent CRC mortality through endoscopic and surgical approaches. Individuals with FAP and their relatives should receive appropriate genetic counseling and join surveillance programs when indicated. This review is focused on the description of the main clinical and genetic aspects of FAP associated with germline APC mutations and MAP. Keywords: colorectal cancer, familial adenomatous polyposis, MAP, APC, MUTYH

Published
2015

18. Delphi initiative for early-onset colorectal cancer (DIRECt). International Management Guidelines

Author

Cavestro Giulia, M, Mannucci, A, Balaguer, F, Hampel, H, Kupfer, SS, Repici, A, Sartore-Bianchi, A, Seppälä Toni, T, Valentini, V, Boland Clement, R, Brand, RE, Buffart, TE, Burke, CA, Caccialanza, R, Cannizzaro, R, Cascinu, S, Cercek, A, Crosbie, EJ, Danese, S, Dekker, E, Daca-Alvarez, M, Deni, F, Dominguez-Valentin, M, Eng, C, Goel, A, Guillem Josè, G, Houwen, B, Kahi, C, Kalady, MF, Kastrinos, F, Kühn, F, Laghi, L, Latchford, A, Liska, D, Lynch, P, Malesci, A, Mauri, G, Meldolesi, E, Møller, P, Monahan, KJ, Moslein, G, Murphy, CC, Nass, K, Ng, K, Oliani, C, Papaleo, E, Patel, SG, Puzzono, M, Remo, A, Ricciardiello, L, Ripamonti Carla, I, Siena, S, Singh, SK, Stadler, ZK, Stanich, PP, Syngal, S, Turi, S, Urso Emanuele, D, Valle, L, Vanni Valeria, S, Vilar, E, Vitellaro, M, You, Y-QN, Yurgelun, MB, Zuppardo Raffaella, A, Stoffel, EM, Associazione Italiana Familiarità Ereditarietà Tumori, Collaborative Group of the Americas on Inherited Gastrointestinal Cancers, European Hereditary Tumor Group, International Society for Gastrointestinal Hereditary Tumours, Tampere University, Clinical Medicine, Department of Gastroenterology, Gastroenterology and Hepatology, CCA - Cancer Treatment and Quality of Life, CCA - Imaging and biomarkers, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, CCA -Cancer Center Amsterdam, and Internal medicine

Subjects
Colorectal Cancer, 50 Years, Clinical, Hepatology, Settore MED/06 - Oncologia Medica, 3122 Cancers, Gastroenterology, Young, Recommendation
Abstract

BACKGROUND & AIMS: Patients with early-onset colorectal cancer (eoCRC) are managed according to guidelines that are not age-specific. A multidisciplinary international group (DIRECt), composed of 69 experts, was convened to develop the first evidence-based consensus recommendations for eoCRC. METHODS: After reviewing the published literature, a Delphi methodology was used to draft and respond to clinically relevant questions. Each statement underwent 3 rounds of voting and reached a consensus level of agreement of ≥80%. RESULTS: The DIRECt group produced 31 statements in 7 areas of interest: diagnosis, risk factors, genetics, pathology-oncology, endoscopy, therapy, and supportive care. There was strong consensus that all individuals younger than 50 should undergo CRC risk stratification and prompt symptom assessment. All newly diagnosed eoCRC patients should receive germline genetic testing, ideally before surgery. On the basis of current evidence, endoscopic, surgical, and oncologic treatment of eoCRC should not differ from later-onset CRC, except for individuals with pathogenic or likely pathogenic germline variants. The evidence on chemotherapy is not sufficient to recommend changes to established therapeutic protocols. Fertility preservation and sexual health are important to address in eoCRC survivors. The DIRECt group highlighted areas with knowledge gaps that should be prioritized in future research efforts, including age at first screening for the general population, use of fecal immunochemical tests, chemotherapy, endoscopic therapy, and post-treatment surveillance for eoCRC patients. CONCLUSIONS: The DIRECt group produced the first consensus recommendations on eoCRC. All statements should be considered together with the accompanying comments and literature reviews. We highlighted areas where research should be prioritized. These guidelines represent a useful tool for clinicians caring for patients with eoCRC. publishedVersion

Published
2022

19. 263P Clinical outcomes in patients with germline pathogenic variants in homologous recombination repair (HRR) genes treated with CDK4/6 inhibitors (CDK4/6i) and endocrine therapy (ET)

Author

Rodriguez Hernandez, A., primary, Martinez Saez, O., additional, Brasó-Maristany, F., additional, Pastor, B., additional, Potrony, M., additional, Moreno, L., additional, Grau, E., additional, Puig-Butille, J.A., additional, Sánchez, A., additional, Schettini, F., additional, Conte, B., additional, Chic, N., additional, Vidal Losada, M.J., additional, Munoz, M., additional, Balaguer, F., additional, Prat, A., additional, and Adamo, B., additional

Published
2022
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20. 284P Clinical and molecular characteristics of early-stage triple-negative breast cancer (eTNBC) patients with germline pathogenic variants in homologous recombination repair genes

Author

Hernandez, A. Rodriguez, Conte, B., Maristany, F. Braso, Pastor, B., Fratini, B., Walbaum, B., Potrony, M., Moreno, L., Grau, E., Torres, E. Sanfeliu, Saez, O. Martinez, Solis, E. Segui, Bravo, R. Gómez, Fructuoso, I. Garcia, Losada, M.J. Vidal, Ramon y Cajal, T., Munoz, M., Balaguer, F., Prat, A., and Adamo, B.

Published
2024
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21. Real-time diagnostic accuracy of blue light imaging, linked color imaging and white-light endoscopy for colorectal polyp characterization

Author

Houwen, B., Vleugels, J.L.A., Pellisé, M., Rivero-Sánchez, L., Balaguer, F., Bisschops, R., Tejpar, S., Repici, A., Ramsoekh, D., Jacobs, M., Schreuder, R.M., Kamiński, M.F., Rupińska, M., Bhandari, P., Oijen, M.G. van, Koens, L., Bastiaansen, Barbara A.J., Tytgat, K., Fockens, P., Dekker, E., Hazewinkel, Y., Houwen, B., Vleugels, J.L.A., Pellisé, M., Rivero-Sánchez, L., Balaguer, F., Bisschops, R., Tejpar, S., Repici, A., Ramsoekh, D., Jacobs, M., Schreuder, R.M., Kamiński, M.F., Rupińska, M., Bhandari, P., Oijen, M.G. van, Koens, L., Bastiaansen, Barbara A.J., Tytgat, K., Fockens, P., Dekker, E., and Hazewinkel, Y.

Abstract

Contains fulltext : 252188.pdf (Publisher’s version ) (Open Access), Background and study aims Fujifilm has developed a novel ELUXEO 7000 endoscope system that employs light-emitting diodes (LEDs) at four different wavelengths as light sources that enable blue light imaging (BLI), linked color imaging (LCI), and high-definition white-light endoscopy (HD-WLE). The aim of this study was to address the diagnostic accuracy of real-time polyp characterization using BLI, LCI and HD-WLE (ELUXEO 7000 endoscopy system). Patients methods This is a prespecified post-hoc analysis of a prospective study in which 22 experienced endoscopists (> 2,000 colonoscopies) from eight international centers participated. Using a combination of BLI, LCI, and HD-WLE, lesions were endoscopically characterized including a high- or low-confidence statement. Per protocol, digital images were created from all three imaging modalities. Histopathology was the reference standard. Endoscopists were familiar with polyp characterization, but did not take dedicated training for purposes of this study. Results Overall, 341 lesions were detected in 332 patients. Of the lesions, 269 histologically confirmed polyps with an optical diagnosis were included for analysis (165 adenomas, 27 sessile serrated lesions, and 77 hyperplastic polyps). Overall, polyp characterization was performed with high confidence in 82.9 %. The overall accuracy for polyp characterization was 75.1 % (95 % confidence interval [CI] 69.5-80.1 %), compared with an accuracy of 78.0 % (95 % CI 72.0-83.2 %) for high confidence assignments. The accuracy for endoscopic characterization for diminutive polyps was 74.7 % (95 %CI 68.4-80.3 %), compared with an accuracy of 78.2 % (95 % CI 71.4-84.0 %) for high-confidence assignments. Conclusions The diagnostic accuracy of BLI, LCI, and HD-WLE by experienced endoscopist for real-time polyp characterization seems limited (NCT03344289).

Published
2022

22. Linked Colour imaging for the detection of polyps in patients with Lynch syndrome: a multicentre, parallel randomised controlled trial

Author

Houwen, B., Hazewinkel, Y., Pellisé, M., Rivero-Sánchez, L., Balaguer, F., Bisschops, R., Tejpar, S., Repici, A., Ramsoekh, D., Jacobs, M., Schreuder, R.M., Kaminski, M.F., Rupinska, M., Bhandari, P., Oijen, M.G. van, Koens, L., Bastiaansen, Barbara A.J., Tytgat, K.M., Fockens, P., Vleugels, J.L.A., Dekker, E., Houwen, B., Hazewinkel, Y., Pellisé, M., Rivero-Sánchez, L., Balaguer, F., Bisschops, R., Tejpar, S., Repici, A., Ramsoekh, D., Jacobs, M., Schreuder, R.M., Kaminski, M.F., Rupinska, M., Bhandari, P., Oijen, M.G. van, Koens, L., Bastiaansen, Barbara A.J., Tytgat, K.M., Fockens, P., Vleugels, J.L.A., and Dekker, E.

Abstract

Contains fulltext : 252171.pdf (Publisher’s version ) (Open Access), OBJECTIVE: Despite regular colonoscopy surveillance, colorectal cancers still occur in patients with Lynch syndrome. Thus, detection of all relevant precancerous lesions remains very important. The present study investigates Linked Colour imaging (LCI), an image-enhancing technique, as compared with high-definition white light endoscopy (HD-WLE) for the detection of polyps in this patient group. DESIGN: This prospective, randomised controlled trial was performed by 22 experienced endoscopists from eight centres in six countries. Consecutive Lynch syndrome patients ≥18 years undergoing surveillance colonoscopy were randomised (1:1) and stratified by centre for inspection with either LCI or HD-WLE. Primary outcome was the polyp detection rate (PDR). RESULTS: Between January 2018 and March 2020, 357 patients were randomised and 332 patients analysed (160 LCI, 172 HD-WLE; 6 excluded due to incomplete colonoscopies and 19 due to insufficient bowel cleanliness). No significant difference was observed in PDR with LCI (44.4%; 95% CI 36.5% to 52.4%) compared with HD-WLE (36.0%; 95% CI 28.9% to 43.7%) (p=0.12). Of the secondary outcome parameters, more adenomas were found on a patient (adenoma detection rate 36.3%; vs 25.6%; p=0.04) and a colonoscopy basis (mean adenomas per colonoscopy 0.65 vs 0.42; p=0.04). The median withdrawal time was not statistically different between LCI and HD-WLE (12 vs 11 min; p=0.16). CONCLUSION: LCI did not improve the PDR compared with HD-WLE in patients with Lynch syndrome undergoing surveillance. The relevance of findings more adenomas by LCI has to be examined further. TRIAL REGISTRATION NUMBER: NCT03344289.

Published
2022

23. 147P Breast cancer in women with germline pathogenic variants: Frequency, clinical behavior, and outcomes of a consecutive series of patients from Spain

Author

Rodriguez Hernandez, A., primary, Braso Maristany, F., additional, Pastor, B., additional, Potrony, M., additional, Moreno, L., additional, Grau, E., additional, Puig-Butille, J.A., additional, Martinez Saez, O., additional, Conte, B., additional, Chic, N., additional, Vidal Losada, M.J., additional, Munoz, M., additional, Balaguer, F., additional, Prat, A., additional, and Adamo, B., additional

Published
2022
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24. VALIDATION OF PRIORITY CRITERIA FOR RESTARTING ENDOSCOPIC ACTIVITY AFTER THE FIRST WAVE OF COVID19 PANDEMIC IN SPAIN. THE ENDOPRIOR STUDY

Author

Rivero Sánchez, L., additional, García-Rodríguez, A., additional, Castillo, J., additional, Diez-Redondo, P., additional, Nuñez Rodriguez, H., additional, Ponce, M., additional, San Juan, M., additional, Seoane, A., additional, Albert Carrasco, M., additional, Zaffalon, D., additional, Guarner, C., additional, Murzi, M., additional, Jover, R., additional, Medina Prado, L., additional, Aspuru Rubio, K., additional, García Zafra, B., additional, Joao Matias, D., additional, Cárdenas, A., additional, Gonzalez Suarez, B., additional, Sendino, O., additional, Cordoba, H., additional, Fernández-Simón, A., additional, Araujo, I., additional, Ginés, A., additional, Llach, J., additional, Fernández-Esparrach, G., additional, Pellisé, M., additional, and Balaguer, F., additional

Published
2022
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25. Efficacy of digital droplet PCR analysis of GNAS mutations in cystic fluid to recognize unspecific pancreatic cystic lesions as mucinous cysts

Author

Araujo, I., primary, Ginés, A., additional, Sendino, O., additional, Fernández-Esparrach, G., additional, Sánchez-Montes, C., additional, Soy, G., additional, Cuatracasas, M., additional, Montironi, C., additional, Domínguez, M., additional, Villagrassa, V., additional, Rodríguez, A., additional, Colomer, D., additional, López, M., additional, Ausania, F., additional, Castellví, S., additional, Balaguer, F., additional, and Vaquero, E.C., additional

Published
2022
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27. Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (Genetics in Medicine, (2020), 22, 1, (15-25), 10.1038/s41436-019-0596-9)

Author

Dominguez-Valentin M., Sampson J. R., Seppala T. T., ten Broeke S. W., Plazzer J. -P., Nakken S., Engel C., Aretz S., Jenkins M. A., Sunde L., Bernstein I., Capella G., Balaguer F., Thomas H., Evans D. G., Burn J., Greenblatt M., Hovig E., de Vos tot Nederveen Cappel W. H., Sijmons R. H., Bertario L., Tibiletti M. G., Cavestro G. M., Lindblom A., Della Valle A., Lopez-Kostner F., Gluck N., Katz L. H., Heinimann K., Vaccaro C. A., Buttner R., Gorgens H., Holinski-Feder E., Morak M., Holzapfel S., Huneburg R., Knebel Doeberitz M., Loeffler M., Rahner N., Schackert H. K., Steinke-Lange V., Schmiegel W., Vangala D., Pylvanainen K., Renkonen-Sinisalo L., Hopper J. L., Win A. K., Haile R. W., Lindor N. M., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J. C., Thibodeau S. N., Wadt K., Therkildsen C., Okkels H., Ketabi Z., Moreira L., Sanchez A., Serra-Burriel M., Pineda M., Navarro M., Blanco I., Green K., Lalloo F., Crosbie E. J., Hill J., Denton O. G., Frayling I. M., Rodland E. A., Vasen H., Mints M., Neffa F., Esperon P., Alvarez K., Kariv R., Rosner G., Pinero T. A., Gonzalez M. L., Kalfayan P., Tjandra D., Winship I. M., Macrae F., Moslein G., Mecklin J. -P., Nielsen M., Moller P., Dominguez-Valentin, M., Sampson, J. R., Seppala, T. T., ten Broeke, S. W., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Knebel Doeberitz, M., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., Mecklin, J. -P., Nielsen, M., and Moller, P.

Abstract

The original version of this Article did not contain details of Dutch Cancer Society (DCS) funding (grant number UL 2017-8223) in the Acknowledgements section. This has now been corrected in both the PDF and HTML versions of the Article.

Published
2020

28. SO-26 In-silico Lynch syndrome-related neoantigens prediction for a dendritic cell-based cancer prevention vaccine

Author

Bayó, C., primary, Castellano, G., additional, Ocaña, T., additional, Moreira, L., additional, Carballal, S., additional, Sánchez, A., additional, Moreira, R., additional, Ortiz, O., additional, Castells, A., additional, Pellisé, M., additional, Juan-Otero, M., additional, Benitez-Ribas, D., additional, and Balaguer, F., additional

Published
2021
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29. Cytidine triphosphate promotes efficient ParB-dependent DNA condensation by facilitating one-dimensional spreading from parS

Author

Mark S. Dillingham, de Asis Balaguer F, Clara Aicart-Ramos, de Bragança S, Fernando Moreno-Herrero, Cesar L. Pastrana, and Gemma Lm Fisher

Subjects
chemistry.chemical_compound, Magnetic tweezers, Cytidine triphosphate, DNA clamp, chemistry, Circular bacterial chromosome, Biophysics, CTP binding, DNA condensation, DNA, Protein–protein interaction
Abstract

SUMMARYFaithful segregation of bacterial chromosomes relies on the ParABS partitioning system and the SMC complex. In this work, we used single molecule techniques to investigate the role of cytidine triphosphate (CTP) binding and hydrolysis in the critical interaction between centromere-like parS DNA sequences and the ParB CTPase. Using a combined dual optical tweezers confocal microscope, we observe the specific interaction of ParB with parS directly. Binding around parS is enhanced 4-fold by the presence of CTP or the non-hydrolysable analogue CTPγS. However, ParB proteins are also detected at a lower density in distal non-specific regions of DNA. This requires the presence of a parS loading site and is prevented by roadblocks on DNA, consistent with one dimensional diffusion by a sliding clamp. Magnetic tweezers experiments show that the spreading activity, which has an absolute requirement for CTP binding but not hydrolysis, results in the condensation of parS-containing DNA molecules at low nanomolar protein concentrations. We propose a model in which ParB-CTP-Mg2+ complexes move along DNA following loading at parS sites and protein:protein interactions result in the localised condensation of DNA within ParB networks.

Published
2021

30. No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

Author

Dominguez-Valentin, M, Plazzer, J-P, Sampson, JR, Engel, C, Aretz, S, Jenkins, MA, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, IM, Thomas, H, Evans, DG, Burn, J, Greenblatt, M, Cappel, WHDVTN, Sijmons, RH, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, MG, Cavestro, GM, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, CA, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, HFA, Perne, C, Buettner, R, Goergens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hueneburg, R, Doeberitz, MVK, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, EJ, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sanchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Pinero, TA, Pavicic, WH, Kalfayan, P, ten Broeke, SW, Mecklin, J-P, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Peltomaki, P, Hopper, JL, Win, AK, Buchanan, DD, Lindor, NM, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Therkildsen, C, Hansen, TVO, Lindberg, L, Rodland, EA, Neffa, F, Esperon, P, Tjandra, D, Moslein, G, Seppala, TT, Moller, P, Dominguez-Valentin, M, Plazzer, J-P, Sampson, JR, Engel, C, Aretz, S, Jenkins, MA, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, IM, Thomas, H, Evans, DG, Burn, J, Greenblatt, M, Cappel, WHDVTN, Sijmons, RH, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, MG, Cavestro, GM, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, CA, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, HFA, Perne, C, Buettner, R, Goergens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hueneburg, R, Doeberitz, MVK, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, EJ, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sanchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Pinero, TA, Pavicic, WH, Kalfayan, P, ten Broeke, SW, Mecklin, J-P, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Peltomaki, P, Hopper, JL, Win, AK, Buchanan, DD, Lindor, NM, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Therkildsen, C, Hansen, TVO, Lindberg, L, Rodland, EA, Neffa, F, Esperon, P, Tjandra, D, Moslein, G, Seppala, TT, and Moller, P

Abstract

BACKGROUND: Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. OBJECTIVE: To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. METHODS: Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. RESULTS: Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. CONCLUSION: Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2.

Published
2021

31. Analysis in the Prospective Lynch Syndrome Database identifies sarcoma as part of the Lynch syndrome tumor spectrum

Author

Dominguez-Valentin M., Sampson J. R., Moller P., Seppala T. T., Plazzer J. -P., Nakken S., Engel C., Aretz S., Jenkins M. A., Sunde L., Bernstein I., Capella G., Balaguer F., Thomas H., Evans D. G., Burn J., Greenblatt M., Hovig E., Nielsen M., de Vos tot Nederveen Cappel W. H., Sijmons R. H., Bertario L., Tibiletti M. G., Cavestro G. M., Lindblom A., Valle A. D., Lopez-Kostner F., Gluck N., Katz L. H., Heinimann K., Vaccaro C. A., Buttner R., Gorgens H., Holinski-Feder E., Morak M., Holzapfel S., Huneburg R., von Knebel Doeberitz M., Loeffler M., Rahner N., Weitz J., Steinke-Lange V., ten Broeke S. W., Schmiegel W., Vangala D., Pylvanainen K., Renkonen-Sinisalo L., Hopper J. L., Win A. K., Haile R. W., Lindor N. M., Gallinger S., Le Marchand L., Newcomb P. A., Figueiredo J. C., Thibodeau S. N., Jensen L. H., Madsen M. B., Kroldrup L., Nilbert M., Moreira L., Sanchez A., Serra-Burriel M., Pineda M., Navarro M., Vidal J. B., Blanco I., Green K., Lalloo F., Crosbie E. J., Hill J., Denton O. G., Rodland E. A., Vasen H., Mints M., Neffa F., Esperon P., Alvarez K., Kariv R., Rosner G., Pinero T. A., Gonzalez M. L., Kalfayan P., Tjandra D., Winship I. M., Macrae F., Moslein G., Mecklin J. -P., Dominguez-Valentin, M., Sampson, J. R., Moller, P., Seppala, T. T., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., Nielsen, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Valle, A. D., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., ten Broeke, S. W., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Jensen, L. H., Madsen, M. B., Kroldrup, L., Nilbert, M., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Vidal, J. B., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., and Mecklin, J. -P.

Subjects
Male, Adult, Oncology, Cancer Research, 2019-20 coronavirus outbreak, medicine.medical_specialty, sarcoma, Databases, Factual, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Sarcoma/diagnosis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Humans, Medicine, Aged, business.industry, Sarcoma, Syndrome, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, MSH2, 030220 oncology & carcinogenesis, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis, Female, 030211 gastroenterology & hepatology, business
Published
2020

33. Diagnostic Accuracy Of Applying The Wasp Classification To Blue Light Imaging And Linked Color Imaging For Real-Time Colorectal Polyp Charaterisation

Author

Houwen, BBSL, additional, Vleugels, JLA, additional, Pellisé, M, additional, Rivero-Sánchez, L, additional, Balaguer, F, additional, Bisschops, R, additional, Tejpar, S, additional, Repici, A, additional, Ramsoekh, D, additional, Jacobs, MAJM, additional, Schreuder, RM, additional, Kamiński, MF, additional, Rupińska, M, additional, Bhandari, P, additional, van Oijen, MGH, additional, Koens, L, additional, Bastiaansen, BAJ, additional, Tytgat, KMAJ, additional, Fockens, P, additional, Dekker, E, additional, and Hazewinkel, Y, additional

Published
2021
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34. Incidental Pancreatic Adenocarcinoma: More Frequent Than Expected?

Author

Soy, G, additional, Olivas, I, additional, Bofill, A, additional, Escudé, L, additional, Sendino, O, additional, Fernández-Esparrach, G, additional, Ayuso, JR, additional, Vaquero, E, additional, Ausania, F, additional, Saurí, T, additional, Alós, S, additional, Cuatrecasas, M, additional, Balaguer, F, additional, and Ginès, A, additional

Published
2021
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35. Clinical significance of a microRNA signature for the identification and predicting prognosis in colorectal cancers with mucinous differentiation

Author

Ruiz-Banobre J, Roy R, Fernandez M, Murcia O, Jover R, Pera M, Balaguer F, Lopez-Lopez R, and Goel A

Subjects
neoplasms, digestive system diseases
Abstract

Accumulating evidence supports the fact that the mere presence of mucinous differentiation in colorectal cancer (CRC), rather than its proportion, is a more accurate representative of a particular CRC subtype with distinct clinical and molecular features. In addition, the prognostic significance of the mucinous carcinoma (MC) subtype remains poorly understood and biomarkers have been barely explored in this disease. Herein, we have performed a systematic and comprehensive analysis in MCs and non-MCs and identified a panel of microRNAs (miRNAs) that are differentially expressed between these two subtypes of CRC. Next, we interrogated their clinical significance and demonstrated their robust diagnostic and prognostic clinical ability in CRCs with mucinous differentiation. Finally, we established an integrative risk-assessment model by combining the miRNA-based risk scores together with TNM staging, which was a superior predictor of prognosis in mucinous CRC patients. Collectively, we report a novel miRNA biomarker panel for the identification and predicting survival in CRC patients with mucinous differentiation.

Published
2020

36. Personalised surveillance for serrated polyposis syndrome: results from a prospective 5-year international cohort study

Author

Bleijenberg, A.G.C., Ijspeert, J.E.G., Herwaarden, Y.J. van, Carballal, S., Pellise, M., Jung, Gerhard, Bisseling, T.M., Nagtegaal, I.D., Balaguer, F., Dekker, E., Bleijenberg, A.G.C., Ijspeert, J.E.G., Herwaarden, Y.J. van, Carballal, S., Pellise, M., Jung, Gerhard, Bisseling, T.M., Nagtegaal, I.D., Balaguer, F., and Dekker, E.

Abstract

Contains fulltext : 216682pub.pdf (publisher's version ) (Open Access)

Published
2020

37. Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database (vol 22, pg 15, 2020)

Author

Dominguez-Valentin, M, Sampson, JR, Seppala, TT, ten Broeke, SW, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, MA, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, DG, Burn, J, Greenblatt, M, Hovig, E, de Vos tot Nederveen Cappel, WH, Sijmons, RH, Bertario, L, Tibiletti, MG, Cavestro, GM, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Gluck, N, Katz, LH, Heinimann, K, Vaccaro, CA, Buttner, R, Gorgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Huneburg, R, Knebel Doeberitz, MV, Loeffler, M, Rahner, N, Schackert, HK, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvanainen, K, Renkonen-Sinisalo, L, Hopper, JL, Win, AK, Haile, RW, Lindor, NM, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sanchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, EJ, Hill, J, Denton, OG, Frayling, IM, Rodland, EA, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, TA, Gonzalez, ML, Kalfayan, P, Tjandra, D, Winship, IM, Macrae, F, Moslein, G, Mecklin, J-P, Nielsen, M, Moller, P, Dominguez-Valentin, M, Sampson, JR, Seppala, TT, ten Broeke, SW, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, MA, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, DG, Burn, J, Greenblatt, M, Hovig, E, de Vos tot Nederveen Cappel, WH, Sijmons, RH, Bertario, L, Tibiletti, MG, Cavestro, GM, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Gluck, N, Katz, LH, Heinimann, K, Vaccaro, CA, Buttner, R, Gorgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Huneburg, R, Knebel Doeberitz, MV, Loeffler, M, Rahner, N, Schackert, HK, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvanainen, K, Renkonen-Sinisalo, L, Hopper, JL, Win, AK, Haile, RW, Lindor, NM, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sanchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, EJ, Hill, J, Denton, OG, Frayling, IM, Rodland, EA, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, TA, Gonzalez, ML, Kalfayan, P, Tjandra, D, Winship, IM, Macrae, F, Moslein, G, Mecklin, J-P, Nielsen, M, and Moller, P

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020

38. Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Author

Dominguez-Valentin, M, Sampson, JR, Seppala, TT, ten Broeke, SW, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, MA, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, DG, Burn, J, Greenblatt, M, Hovig, E, de Vos Tot Nederveen Cappel, WH, Sijmons, RH, Bertario, L, Tibiletti, MG, Cavestro, GM, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Gluck, N, Katz, LH, Heinimann, K, Vaccaro, CA, Buettner, R, Goergens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hueneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Schackert, HK, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvanainen, K, Renkonen-Sinisalo, L, Hopper, JL, Win, AK, Haile, RW, Lindor, NM, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sanchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, EJ, Hill, J, Denton, OG, Frayling, IM, Rodland, EA, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, TA, Gonzalez, ML, Kalfayan, P, Tjandra, D, Winship, IM, Macrae, F, Moeslein, G, Mecklin, J-P, Nielsen, M, Moller, P, Dominguez-Valentin, M, Sampson, JR, Seppala, TT, ten Broeke, SW, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, MA, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, DG, Burn, J, Greenblatt, M, Hovig, E, de Vos Tot Nederveen Cappel, WH, Sijmons, RH, Bertario, L, Tibiletti, MG, Cavestro, GM, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Gluck, N, Katz, LH, Heinimann, K, Vaccaro, CA, Buettner, R, Goergens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hueneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Schackert, HK, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvanainen, K, Renkonen-Sinisalo, L, Hopper, JL, Win, AK, Haile, RW, Lindor, NM, Gallinger, S, Le Marchand, L, Newcomb, PA, Figueiredo, JC, Thibodeau, SN, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sanchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, EJ, Hill, J, Denton, OG, Frayling, IM, Rodland, EA, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, TA, Gonzalez, ML, Kalfayan, P, Tjandra, D, Winship, IM, Macrae, F, Moeslein, G, Mecklin, J-P, Nielsen, M, and Moller, P

Abstract

PURPOSE: Pathogenic variants affecting MLH1, MSH2, MSH6, and PMS2 cause Lynch syndrome and result in different but imprecisely known cancer risks. This study aimed to provide age and organ-specific cancer risks according to gene and gender and to determine survival after cancer. METHODS: We conducted an international, multicenter prospective observational study using independent test and validation cohorts of carriers of class 4 or class 5 variants. After validation the cohorts were merged providing 6350 participants and 51,646 follow-up years. RESULTS: There were 1808 prospectively observed cancers. Pathogenic MLH1 and MSH2 variants caused high penetrance dominant cancer syndromes sharing similar colorectal, endometrial, and ovarian cancer risks, but older MSH2 carriers had higher risk of cancers of the upper urinary tract, upper gastrointestinal tract, brain, and particularly prostate. Pathogenic MSH6 variants caused a sex-limited trait with high endometrial cancer risk but only modestly increased colorectal cancer risk in both genders. We did not demonstrate a significantly increased cancer risk in carriers of pathogenic PMS2 variants. Ten-year crude survival was over 80% following colon, endometrial, or ovarian cancer. CONCLUSION: Management guidelines for Lynch syndrome may require revision in light of these different gene and gender-specific risks and the good prognosis for the most commonly associated cancers.

Published
2020

40. Impact of cyst fluid GNAS and KRAS mutational analysis on pancreatic cyst categorization in patients evaluated by EUS-FNA: a single-center experience of 103 patients

Author

Vaquero, E., primary, Sánchez, C., additional, Fernández-Esparrach, G., additional, Sendino, O., additional, Araujo, I., additional, Domínguez, M., additional, Cuatracasas, M., additional, Montironi, C., additional, Castellví, S., additional, Balaguer, F., additional, Molero, X., additional, Ausania, F., additional, and Ginés, A., additional

Published
2020
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41. EFFECT OF TRAINING ON THE REFERRALS TO SURGERY FOR LARGE BENIGN COLORECTAL POLYPS

Author

Gavric, A, additional, Trejo, G, additional, Ortiz, O, additional, Rivero-Sanchez, L, additional, Zaffalon, D, additional, Fernández-Esparrach, G, additional, González-Suárez, B, additional, Araujo, I, additional, Córdova, H, additional, Sendino, O, additional, Chávez, K, additional, Bravo, R, additional, Otero, A, additional, Llach, J, additional, Balaguer, F, additional, and Pellisé-Urquiza, M, additional

Published
2020
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42. IMPACT OF CYST FLUID GNAS AND KRAS MUTATIONAL ANALYSIS ON PANCREATIC CYST CATEGORIZATION IN PATIENTS EVALUATED BY EUS-FNA: A SINGLE-CENTER EXPERIENCE OF 103 PATIENTS

Author

Ginès, A, additional, Fernández-Esparrach, G, additional, Sendino, O, additional, Sánchez-Montes, C, additional, Araujo, IK, additional, Cuatrecasas, M, additional, Montironi, C, additional, Domínguez-Fraile, M, additional, Castellví, S, additional, Balaguer, F, additional, and Vaquero, EC, additional

Published
2020
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43. POST-COLONOSCOPY COLORECTAL CANCER IN LYNCH SYNDROME IS ASSOCIATED WITH QUALITY ISSUES DURING SURVEILLANCE

Author

Sanchez Garcia, A, additional, Navarro, M, additional, Roos, VH, additional, Pineda, M, additional, Caballol, B, additional, Moreno, L, additional, Ocaña, T, additional, Rodriguez-Moranta, F, additional, Rodriguez-Alonso, L, additional, Cajal, TRy, additional, Llort, G, additional, Pico, MD, additional, Jover, R, additional, Lopez Fernandez, Adria, additional, Martinez de Castro, E, additional, Lopez-Arias, MJ, additional, Alvarez, C, additional, Bessa, X, additional, Rivas, L, additional, Cubiella, J, additional, Rodriguez-Alcalde, D, additional, Dacal, A, additional, Herraiz, M, additional, Garau, C, additional, Bujanda, L, additional, Cid, L, additional, Poves, C, additional, Garzon, M, additional, Pizarro, A, additional, Salces, I, additional, Ponce, M, additional, Carrillo-Palau, M, additional, Aguirre, E, additional, Saperas, E, additional, Suarez, A, additional, Piñol, V, additional, Carballal, S, additional, Rivero-Sanchez, L, additional, Balmaña, J, additional, Brunet, J, additional, Castells, A, additional, Dekker, E, additional, Pellise, M, additional, Capella, G, additional, Serra-Buriel, M, additional, Moreira, L, additional, and Balaguer, F, additional

Published
2020
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46. Endoscopic management of polyposis syndromes: European Society of Gastrointestinal Endoscopy (ESGE) Guideline

Author

van Leerdam ME, Roos VH, van Hooft JE, Dekker E, Jover R, Kaminski MF, Latchford A, Neumann H, Pellisé M, Saurin JC, Tanis PJ, Wagner A, Balaguer F, and Ricciardiello L

Abstract

ESGE recommends that individuals with hereditary gastrointestinal polyposis syndromes should be surveilled in dedicated units that provide monitoring of compliance and endoscopic performance measures. Strong recommendation, moderate quality of evidence, level of agreement 90 %.ESGE recommends performing esophagogastroduodenoscopy, small-bowel examination, and/or colonoscopy earlier than the planned surveillance procedure if a patient is symptomatic. Strong recommendation, low quality of evidence, level of agreement 100 %.

Published
2019

47. Farming with pollards - Produkcja rolna z drzewami ogławianymi

Author

Colin, J., Van Lerberghe, P., Balaguer, F., Borek, R., and Jędrejek, A.

Subjects
przycinanie, biomasa drzewna, Ogławianie drzew, pruning, profitability, Pollarding trees, opłacalność, woody biomass
Abstract

Ogławianie drzew optymalizuje pozyskiwanie biomasy odnawialnej i ułatwia lokalną produkcję drewna opałowego, zrębek, tarcicy i paszy. Zbiór odbywa się na przestrzeni dziesięcioleci, w zależności od wybranego cyklu zbioru i przeznaczenia materiału. Wiele gatunków drzew można poddać ogławianiu w celu uzyskania różnorodnych produktów. Ogławianie drzew wydłuża ich życie. Wskutek ograniczania ich wzrostu, są bardziej odporne na wiatry i susze, a to może być szczególnie ważne w warunkach zmian klimatu. Stare ogławiane drzewa separują żywe komórki (na zewnątrz) od martwych (w środku pnia), by ochronić je przed chorobami. Pnie drzew, a nawet ich korzenie są siedliskiem bioróżnorodności flory i fauny.

Published
2019
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48. Endoscopic surveillance after colonic polyps and colorrectal cancer resection. 2018 update

Author

Mangas-Sanjuan, C, Jover, R, Cubiella, J, Marzo-Castillejo, M, Balaguer, F, Bessa, X, Bujanda, L, Bustamante, M, Castelts, A, Diaz-Tasende, J, Diez-Redondo, P, Herraiz, M, Mascort-Roca, JJ, Pellise, M, Quintero, E, and Soc Espanola Epidemiologia

Subjects
Clinical guidelines, Interval cancer, Endoscopic surveillance, Colonoscopy, Recommendations, Colorectal cancer, Colorectal cancer prevention
Abstract

There is limited scientific evidence available to stratify the risk of developing metachronous colorectal cancer after resection of colonic polyps and to determine surveillance intervals and is mostly based on observational studies. However, while awaiting further evidence, the criteria of endoscopic follow-up needs to be unified in our setting. Therefore, the Spanish Association of Gastroenterology, the Spanish Society of Family and Community Medicine, the Spanish Society of Digestive Endoscopy, and the Colorectal Cancer Screening Group of the Spanish Society of Epidemiology, have written this consensus document, which is included in chapter 10 of the "Clinical Practice Guideline for Diagnosis and Prevention of Colorectal Cancer. 2018 Update". Important developments will also be presented as regards the previous edition published in 2009. First of all, situations that require and do not require endoscopic surveillance are established, and the need of endoscopic surveillance of individuals who do not present a special risk of metachronous colon cancer is eliminated. Secondly, endoscopic surveillance recommendations are established in individuals with serrated polyps. Finally, unlike the previous edition, endoscopic surveillance recommendations are given in patients operated on for colorectal cancer. At the same time, it represents an advance on the European guideline for quality assurance in colorectal cancer screening, since it eliminates the division between intermediate risk group and high risk group, which means the elimination of a considerable proportion of colonoscopies of early surveillance. Finally, clear recommendations are given on the absence of need for follow-up in the low risk group, for which the European guidelines maintained some ambiguity. (C) 2018 Elsevier Espana, S.L.U. All rights reserved.

Published
2019

49. High incidence of advanced colorectal neoplasia during endoscopic surveillance in serrated polyposis syndrome

Author

Rodríguez-Alcalde D, Carballal S, Moreira L, Hernández L, Rodríguez-Alonso L, Rodríguez-Moranta F, Gonzalo V, Bujanda L, Bessa X, Poves C, Cubiella J, Castro I, González M, Moya E, Oquiñena S, Clofent J, Quintero E, Esteban P, Piñol V, Fernández FJ, Jover R, Cid L, Saperas E, López-Cerón M, Cuatrecasas M, López-Vicente J, Rivero-Sánchez L, Jung G, Vila-Casadesús M, Sánchez A, Castells A, Pellisé M, Balaguer F, and Gastrointestinal Oncology Group of the Spanish Gastroenterological Association

Abstract

Background Serrated polyposis syndrome (SPS) has been associated with an increased risk of colorectal cancer (CRC). Accordingly, intensive surveillance with annual colonoscopy is advised. The aim of this multicenter study was to describe the risk of advanced lesions in SPS patients undergoing surveillance, and to identify risk factors that could guide the prevention strategy. Methods From March 2013 to April 2015, 296 patients who fulfilled criteria I and/or III for SPS were retrospectively recruited at 18 centers. We selected patients in whom successful clearing colonoscopy had been performed and who underwent subsequent endoscopic surveillance. Advanced neoplasia was defined as CRC, advanced adenoma, or advanced serrated lesion that were >= 10 mm and/or with dysplasia. Cumulative incidence of advanced neoplasia was calculated and independent predictors of advanced neoplasia development were identified. Results In 152 SPS patients a total of 315 surveillance colonoscopies were performed (median 2, range 1-7). The 3-year cumulative incidence of CRC and advanced neoplasia were 3.1% (95% confidence interval [CI] 0-6.9) and 42.0% (95%CI 32.4-51.7), respectively. Fulfilling both I+III criteria and the presence of advanced serrated lesions at baseline colonoscopy were independent predictors of advanced neoplasia development (odds ratio [OR] 1.85, 95%CI 1.03-3.33, P = 0.04 and OR 2.62, 95%CI 1.18-5.81, P = 0.02, respectively). During follow-up, nine patients (5.9%) were referred for surgery for invasive CRC (n=4, 2.6%) or because of polyp burden (n=5, 3.3%). After total colectomy, 17.9% patients developed advanced neoplasia in the retained rectum. Conclusions Patients with SPS have a substantial risk of developing advanced neoplasia under endoscopic surveillance, whereas CRC incidence is low. Personalized endoscopic surveillance based on polyp burden and advanced serrated histology could help to optimize prevention in patients with SPS.

Published
2019

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