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Objectives<\/h3>\n
The Gastrointestinal Tumour Genetics group studies hereditary susceptibility to developing colorectal cancer and other gastrointestinal tumors.
On the one hand, identifying new candidate genes in patients genetically enriched by early diagnosis of the disease. On the other, developing new strategies that improve the genetic diagnosis of hereditary syndromes of gastrointestinal tumours; specifically, in the interpretation and classification of genetic variants and in knowing the role of new genes in hereditary susceptibility.
Its medium\/long-term objective is that these results, once validated, have a direct application in healthcare practice by improving the genetic diagnosis of Hereditary Gastrointestinal Tumors. This knowledge will allow patients and their families at risk to benefit from personalised measures for the prevention, diagnosis and treatment of cancer.<\/p>\n
Lines of research<\/h3>\n\n- Omics approaches for the identification of new candidate genes for susceptibility to early-onset colorectal cancer and unknown colonic polyposis. Integration of germline and tumor genetic data<\/li>\n
- Molecular characterization of intermediate phenotypes between Lynch Syndrome and Constitutional Mismatch Repair Deficiency Syndrome (CMMRD): Establish phenotype-genotype correlations. European Consortium C4CMMRD<\/li>\n
- Improve the methods and strategies of molecular analysis in the genetic diagnosis of hereditary Syndromes of Gastrointestinal Cancer: identification, interpretation and classification of genetic variants obtained by NGS; to study the role of genes traditionally associated with other hereditary cancer syndromes in the etiology of hereditary colorectal cancer; implement new strategies to improve the identification of CMMRD syndrome<\/li>\n
- Molecular characterization of Lynch-like Syndrome: Integration of germline and tumor omics data for the identification of new candidate genes<\/li>\n<\/ul>\n
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\n\n\nLeader<\/strong>
Ruiz Ponte, Clara<\/p>\n <\/p>\n
Members<\/strong>
Flores \u00d1aupari, Jimena Massiel
Gim\u00e9nez Mosquera, Mar\u00eda Bego\u00f1a
Gonz\u00e1lez Bouz\u00f3n, Roc\u00edo
L\u00f3pez Novo, Anael<\/p>\nExternal Collaborator Staff<\/strong>
Dacal Rivas, Andr\u00e9s
Castellv\u00ed-Bel, Sergi<\/p>\n <\/p>\n<\/td>\n
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\n- Publicaci\u00f3n 1<\/li>\n
- Publicaci\u00f3n 2<\/li>\n
- Etc.<\/li>\n<\/ul>\n
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https:\/\/<\/p>\n
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Lead researcher<\/h2>\n
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| Leader<\/strong> Ruiz Ponte, Clara<\/p>\n <\/p>\n Members<\/strong> External Collaborator Staff<\/strong> <\/p>\n<\/td>\n <\/p>\n <\/p>\n <\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n [\/et_pb_toggle][et_pb_toggle title=”Proyectos” disabled_on=”on|on|on” admin_label=”Proyectos (cambiar s\u00f3 codigo IDIS)” _builder_version=”4.16″ _module_preset=”default” body_font=”|300|||||||” disabled=”on” locked=”off” global_colors_info=”{}”]<\/p>\n\n [\/et_pb_toggle][et_pb_toggle title=”Publicaciones” disabled_on=”on|on|on” admin_label=”Publicaciones” _builder_version=”4.16″ _module_preset=”default” body_font=”|300|||||||” disabled=”on” global_colors_info=”{}”]<\/p>\n [\/et_pb_toggle][et_pb_toggle title=”Web del grupo” disabled_on=”on|on|on” admin_label=”Web del grupo” _builder_version=”4.16″ _module_preset=”default” body_font=”|300|||||||” disabled=”on” global_colors_info=”{}”]<\/p>\n https:\/\/<\/p>\n [\/et_pb_toggle][\/et_pb_column][et_pb_column type=”1_3″ _builder_version=”4.16″ _module_preset=”default” global_colors_info=”{}”][et_pb_text admin_label=”Investigador\/a l\u00edder” _builder_version=”4.21.0″ _module_preset=”default” text_text_color=”#FFFFFF” header_text_color=”#FFFFFF” header_2_text_align=”left” header_2_text_color=”#FFFFFF” background_color=”#10294c” custom_margin=”0px||||false|false” custom_padding=”6px||0px|6px|false|false” locked=”off” global_colors_info=”{}”]<\/p>\n [\/et_pb_text][et_pb_text admin_label=”WP Team (cambiar s\u00f3 a ID pola do l\u00edder de equipo)” _builder_version=”4.16″ _module_preset=”default” locked=”on” global_colors_info=”{}”]<\/p>\n |
![\"Clara](\"https:\/\/www.idisantiago.es\/wp-content\/uploads\/2022\/02\/Clara-Ruiz-Ponte-320x320.jpg\")
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