المؤلفون: Marchena-Perea, Erik Michel, Salazar-Hidalgo, Milton Eduardo, Gómez-Sanz, Alicia, Arranz-Ledo, Mónica, Barroso, Alicia, Fernández, Victoria, Tejera-Pérez, Hugo, Pita, Guillermo, Núñez-Torres, Rocío, Pombo, Luz, Morales-Chamorro, Rafael, Cano-Cano, Juana María, Soriano, Maria Del Carmen, Garre, Pilar, Durán, Mercedes, Currás-Freixes, Maria, de la Hoya, Miguel, Osorio, Ana

المساهمون: Unión Europea. Comisión Europea, Centro de Investigación Biomédica en Red - CIBERER (Enfermedades Raras)

مصطلحات موضوعية: GENES, MUTATION, VARIANTS, SPECTRUM, BLM, WOMEN

Relation: https://doi.org/10.3390/cancers14194738.; info:eu-repo/grantAgreement/PI19/00640; info:eu-repo/grantAgreement/PI20/00110; Cancers (Basel). 2022 ;14(19):4738.; http://hdl.handle.net/20.500.12105/16079; Cancers

الاتاحة: https://hdl.handle.net/20.500.12105/16079
https://doi.org/10.3390/cancers14194738

المؤلفون: Guillén-Ponce, Carmen, Lastra, Enrique, Lorenzo-Lorenzo, Isabel, Martín Gómez, Teresa, Morales Chamorro, Rafael, Sánchez-Heras, Ana Beatriz, Serrano, Raquel, Soriano Rodríguez, María Carmen, Soto, José Luis, Robles, Luis

المساهمون: Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología, Genética Humana y de Mamíferos (GHM)

مصطلحات موضوعية: Lynch syndrome, Adenomatous polyposis, Hereditary colorectal cancer, Colon cancer, Genética

Relation: https://doi.org/10.1007/s12094-019-02272-y; Clinical and Translational Oncology. 2020, 22: 201-212. doi:10.1007/s12094-019-02272-y; 1699-048X (Print); 1699-3055 (Online); http://hdl.handle.net/10045/105329

الاتاحة: http://hdl.handle.net/10045/105329
https://doi.org/10.1007/s12094-019-02272-y

المؤلفون: European Commission, Federación Española de Enfermedades Raras, Marchena-Perea, Erik Michel, Salazar-Hidalgo, Milton Eduardo, Gómez-Sanz, Alicia, Arranz-Ledo, Mónica, Barroso, Alicia, Fernández, Victoria, Tejera-Pérez, Hugo, Pita, Guillermo, Núñez-Torres, Rocío, Pombo, Luz, Morales-Chamorro, Rafael, Cano-Cano, Juana María, Soriano, Maria del Carmen, Garre, Pilar, Durán, Mercedes, Currás-Freixes, María, Hoya, Miguel de la, Osorio, Ana

مصطلحات الفهرس: Breast cancer, RECQ helicase family, Next-generation sequencing, BRCAX, artículo

URL: http://hdl.handle.net/10261/296252
Publisher's version
The underlying dataset has been published as supplementary material of the article in the publisher platform at 10.3390/cancers14194738
http://dx.doi.org/10.3390/cancers14194738
Sí

المؤلفون: Morales Chamorro, Rafael, Chirivella González, Isabel, Llort Pursals, Gemma, Sánchez Heras, Ana Beatriz, Serrano Blanch, Raquel, Teulé-Vega, Àlex, Guillén Ponce, Carmen, Graña Suárez, Begoña

المصدر: Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))

مصطلحات موضوعية: Càncer, Dones, Malalties hereditàries, Cancer, Women, Genetic diseases

وصف الملف: 11 p.; application/pdf

Relation: Reproducció del document publicat a: https://doi.org/10.3989/arbor.2015.773n3008; Arbor. Ciencia, Pensamiento, Cultura, 2015, vol. 191, num. 773, p. a238; https://doi.org/10.3989/arbor.2015.773n3008; http://hdl.handle.net/2445/126287

الاتاحة: http://hdl.handle.net/2445/126287

المؤلفون: Morales Chamorro, Rafael, Chirivella González, Isabel, Llort Pursals, Gemma, Sánchez Heras, Ana Beatriz, Serrano Blanch, Raquel, Teule Vega, Alexandre, Guillén Ponce, Carmen, Graña Suárez, Begoña

المصدر: Arbor; Vol. 191 No. 773 (2015); a238 ; Arbor; Vol. 191 Núm. 773 (2015); a238 ; 1988-303X ; 0210-1963 ; 10.3989/arbor.2015.i773

مصطلحات موضوعية: BRCA1, BRCA2, breast cancer, colorectal cancer, endometrial cancer, genetic counsel, hereditary cancer, Lynch syndrome, ovarian cancer, repair genes, cáncer colorrectal, cáncer de endometrio, cáncer hereditario, cáncer de mama, cáncer de ovario, consejo genético, genes reparadores, síndrome de Lynch

وصف الملف: text/html; application/pdf; text/xml

Relation: https://arbor.revistas.csic.es/index.php/arbor/article/view/2041/2543; https://arbor.revistas.csic.es/index.php/arbor/article/view/2041/2544; https://arbor.revistas.csic.es/index.php/arbor/article/view/2041/2545; Barzi, A., Lenz, A. M., Labonte, M. J. y Lenz, H. J. (2013). Molecular pathways: Estrogen pathway in colorectal cancer. Clinical Cancer Research, 19, 21, pp. 5842-5848. http://dx.doi.org/10.1158/1078-0432.CCR-13-0325 PMid:23965904 PMCid:PMC3836673; Brosens, L. A., van Hattem, A., Hylind, L. M., Iacobuzio-Donahue, C., Romans, K. E., Axilbund, J. et al. (2007). Risk of colorectal cancer in juvenile polyposis. Gut, 56, 7, pp. 965-967. http://dx.doi.org/10.1136/gut.2006.116913 PMid:17303595 PMCid:PMC1994351; Burn, J., Gerdes, A. M., Macrae, F., Mecklin, J. P., Moeslein, G., Olschwang, S. et al. (2011). Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial. Lancet, 378, 9809, pp. 2081-2087. http://dx.doi.org/10.1016/S0140-6736(11)61049-0; Chen, S. y Parmigiani, G. (2007). Meta-Analysis of BRCA1 and BRCA2 Penetrance. Journal of Clinical Oncology, 25, 11, pp. 1329-1333. http://dx.doi.org/10.1200/JCO.2006.09.1066 PMid:17416853 PMCid:PMC2267287; Ferlay, J., Soerjomataram, I., Ervik, M., Dikshit, R., Eser, S., Mathers, C. et al. (2013). GLOBOCAN 2012 v1.0, Cancer Incidence and Mortality Workwide: IARC CancerBase nº 11 [en línea]. [Disponible en http://globocan.iarc.fr].; Fostira, F., Tsitlaidou, M., Papadimitriou, C., Pertesi, M., Timotheadou, E., Stavropoulou, A. V. et al. (2012). Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study. Breast Cancer Research and Treatment, 134, 1, pp. 353-362. http://dx.doi.org/10.1007/s10549-012-2021-9 PMid:22434525; Giardiello, F. M., Allen, J. I., Axilbund, J. E., Boland, C. R., Burke, C. A., Burt, R. W. et al. (2014). Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. American Journal of Gastroenterology, 109, 8, pp. 1159-1179. http://dx.doi.org/10.1038/ajg.2014.186 PMid:25070057; Giardiello, F. M., Brensinger, J. D., Tersmette, A. C., Goodman, S. N., Petersen, G. M., Booker, S. V. et al. (2000). Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology, 119, 6, pp. 1447-1453. http://dx.doi.org/10.1053/gast.2000.20228; Gra-a, B., Lastra, E., Llort, G., Brunet, J. e Isla, D. (2011). SEOM clinical guidelines for hereditary cancer. Clinical and Translational Oncology, 13, 8, pp. 580-586. http://dx.doi.org/10.1007/s12094-011-0701-2 PMid:21821494; Gronwald, J., Tung, N., Foulkes, W. D., Offit, K., Gershoni, R., Daly, M. et al. (2006). Tamoxifen and contralateral breast cancer in BRCA1 and BRCA2 carriers: an update. International Journal of Cancer, 118, 9, pp. 2281-2284. http://dx.doi.org/10.1002/ijc.21536 PMid:16331614; Hampel, H., Sweet, K., Westman, J. A., Offit, K. y Eng, C. (2004). Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. Journal of Medical Genetics, 41, 2, pp. 81-91. http://dx.doi.org/10.1136/jmg.2003.010918 PMCid:PMC1735676; Hartmann, L. C., Sellers, T. A., Schaid, D. J., Frank, T. S., Soderberg, C. L., Sitta, D. L. et al. (2001). Efficacy of bilateral prophylactic mastectomy in BRCA1 and BRCA2 gene mutation carriers. Journal of the National Cancer Institute, 93, 21, pp. 1633-1637. http://dx.doi.org/10.1093/jnci/93.21.1633; Heald, B., Mester, J., Rybicki, L., Orloff, M. S., Burke, C. A. y Eng, C. (2010). Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology, 139, 6, pp. 1927-1933. http://dx.doi.org/10.1053/j.gastro.2010.06.061 PMid:20600018 PMCid:PMC3652614; Kauff, N. D., Domchek, S. M., Friebel, T. M., Robson, M. E., Lee, J., Garber, J. E. et al. (2008). Risk-reducing salpingo-oophorectomy for the prevention of BRCA1- and BRCA2-associated breast and gynecologic cancer: a multicenter, prospective study. Journal of Clinical Oncology, 26, 8, pp. 1331-1337. http://dx.doi.org/10.1200/JCO.2007.13.9626 PMid:18268356 PMCid:PMC3306809; Koornstra, J. J., Mourits, M. J., Sijmons, R. H., Leliveld, A. M., Hollema, H. y Kleibeuker, J. H. (2009). Management of extracolonic tumours in patients with Lynch syndrome. Lancet Oncology, 10, 4, pp. 400-408. http://dx.doi.org/10.1016/S1470-2045(09)70041-5; Kriege, M., Brekelmans, C. T., Boetes, C., Besnard, P. E., Zonderland, H. M., Obdeijn, I. M. et al. (2004). Efficacy of MRI and mammography for breast-cancer screening in women with a familial or genetic predisposition. New England Journal of Medicine, 351, 5, pp. 427-437. http://dx.doi.org/10.1056/NEJMoa031759 PMid:15282350; Lastra-Aras, E., Robles-Diaz, L., Guillen-Ponce, C., Alba, E. y Cruz, J. J. (2013). SEOM recommendations on the structure and operation of hereditary cancer genetic counseling units (HCGCUs). Clinical and Translational Oncology, 15, 1, pp. 20-25. http://dx.doi.org/10.1007/s12094-012-0920-1 PMid:22911548; Leach, M. O., Boggis, C. R., Dixon, A. K., Easton, D. F., Eeles, R. A., Evans, D. G. et al. (2005). Screening with magnetic resonance imaging and mammography of a UK population at high familial risk of breast cancer: a prospective multicentre cohort study (MARIBS). Lancet, 365, 9473, pp. 1769-1778.; Lynch, H. T., Lynch, P. M., Lanspa, S. J., Snyder, C. L., Lynch, J. F. y Boland, C. R. (2009). Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clinical Genetics, 76, 1, pp. 1-18. http://dx.doi.org/10.1111/j.1399-0004.2009.01230.x PMid:19659756 PMCid:PMC2846640; Metcalfe, K., Gershman, S., Ghadirian, P., Lynch, H. T., Snyder, C., Tung, N. et al. (2014a). Contralateral mastectomy and survival after breast cancer in carriers of BRCA1 and BRCA2 mutations: retrospective analysis. British Medical Journal, 348, pp. g226.; Metcalfe, K., Lynch, H. T., Snyder, C. L., Foulkes, W., Tung, N. M., Kim-Sing, C. et al. (2014b). The impact of oophorectomy on survival after breast cancer in BRCA1 and BRCA2 mutation carriers. ASCO Meeting Abstracts, 32, 15_suppl, pp. 1507.; Narod, S. A., Brunet, J. S., Ghadirian, P., Robson, M., Heimdal, K., Neuhausen, S. L. et al. (2000). Tamoxifen and risk of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers: a case-control study. Hereditary Breast Cancer Clinical Study Group. Lancet, 356, 9245, pp. 1876-1881. http://dx.doi.org/10.1016/s0140-6736(00)03258-x; Nielsen, M., Hes, F. J., Nagengast, F. M., Weiss, M. M., Mathus-Vliegen, E. M., Morreau, H. et al. (2007). Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis. Clinical Genetics, 71, 5, pp. 427-433. http://dx.doi.org/10.1111/j.1399-0004.2007.00766.x PMid:17489848; Rebbeck, T. R., Kauff, N. D. y Domchek, S. M. (2009). Meta-analysis of risk reduction estimates associated with risk-reducing salpingo-oophorectomy in BRCA1 or BRCA2 mutation carriers. Journal of the National Cancer Institute, 101, 2, pp. 80-87. http://dx.doi.org/10.1093/jnci/djn442 PMid:19141781 PMCid:PMC2639318; Rustgi, A. K. (2007). The genetics of hereditary colon cancer. Genes and Development, 21, 20, pp. 2525-2538. http://dx.doi.org/10.1101/gad.1593107 PMid:17938238; Schmeler, K. M., Lynch, H. T., Chen, L. M., Munsell, M. F., Soliman, P. T., Clark, M. B. et al. (2006). Prophylactic surgery to reduce the risk of gynecologic cancers in the Lynch syndrome. New England Journal of Medicine, 354, 3, pp. 261-269. http://dx.doi.org/10.1056/NEJMoa052627 PMid:16421367; Snowsill, T., Huxley, N., Hoyle, M., Jones-Hughes, T., Coelho, H., Cooper, C. et al. (2014). A systematic review and economic evaluation of diagnostic strategies for Lynch syndrome. Health Technology Assessment, 18, 58, pp. 1-406. http://dx.doi.org/10.3310/hta18580 PMid:25244061; Vasen, H. F., Blanco, I., Aktan-Collan, K., Gopie, J. P., Alonso, A., Aretz, S. et al. (2013). Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. Gut, 62, 6, pp. 812-823. http://dx.doi.org/10.1136/gutjnl-2012-304356 PMid:23408351 PMCid:PMC3647358; Vasen, H. F., Moslein, G., Alonso, A., Aretz, S., Bernstein, I., Bertario, L. et al. (2008). Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut, 57, 5, pp. 704-713. http://dx.doi.org/10.1136/gut.2007.136127 PMid:18194984; Warner, E., Plewes, D. B., Hill, K. A., Causer, P. A., Zubovits, J. T., Jong, R. A. et al. (2004). Surveillance of BRCA1 and BRCA2 mutation carriers with magnetic resonance imaging, ultrasound, mammography, and clinical breast examination. Journal of the American Association, 292, 11, pp. 1317-1325. http://dx.doi.org/10.1001/jama.292.11.1317; https://arbor.revistas.csic.es/index.php/arbor/article/view/2041

الاتاحة: https://arbor.revistas.csic.es/index.php/arbor/article/view/2041
https://doi.org/10.3989/arbor.2015.773n3008

المؤلفون: Universidad de Alicante. Departamento de Fisiología, Genética y Microbiología, Guillén-Ponce, Carmen, Lastra, Enrique, Lorenzo-Lorenzo, Isabel, Martín Gómez, Teresa, Morales Chamorro, Rafael, Sánchez-Heras, Ana Beatriz, Serrano, Raquel, Soriano Rodríguez, María Carmen, Soto, José Luis, Robles, Luis

مصطلحات الفهرس: Lynch syndrome, Adenomatous polyposis, Hereditary colorectal cancer, Colon cancer, info:eu-repo/semantics/article

URL: http://hdl.handle.net/10045/105329
https://doi.org/10.1007/s12094-019-02272-y
https://doi.org/10.1007/s12094-019-02272-y

المؤلفون: Silva-Fernandez, Julia, Morales-Chamorro, Rafael, Gomez-Alfonso, Francisco Javier, Val-Zaballos, Florentino Del, Garcia-Manzanares-Vazquez, de Agredos Alvaro, Lopez-Iglesias, Maria, Garcia-Ruiz, Rafael, Gomez-Garcia, Ines

المصدر: Endocrine Abstracts ; ISSN 1479-6848

الاتاحة: http://dx.doi.org/10.1530/endoabs.41.ep46
http://www.endocrine-abstracts.org/ea/0041/ea0041EP46.htm

المؤلفون: Morales Chamorro, Rafael, Chirivella González, Isabel, Llort Pursals, Gemma, Sánchez Heras, Ana Beatriz, Serrano Blanch, Raquel, Teulé-Vega, Àlex, Guillén Ponce, Carmen, Graña Suárez, Begoña

المصدر: Arbor; Vol. 191 No. 773 (2015); a238
Arbor; Vol. 191 Núm. 773 (2015); a238
Arbor
Consejo Superior de Investigaciones Científicas (CSIC)
Dipòsit Digital de la UB
Universidad de Barcelona

مصطلحات موضوعية: cáncer de endometrio, repair genes, cáncer colorrectal, Dones, colorectal cancer, genetic counsel, BRCA1, consejo genético, BRCA2, cáncer de mama, breast cancer, Lynch syndrome, ovarian cancer, hereditary cancer, genes reparadores, endometrial cancer, Malalties hereditàries, Women, cáncer hereditario, Càncer, cáncer de ovario, síndrome de Lynch, Cancer, Genetic diseases

وصف الملف: text/html; application/pdf; text/xml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2dfe7706b0d6462293b7d894a12e2477
https://arbor.revistas.csic.es/index.php/arbor/article/view/2041