La Fundaci\u00f3 M\u00fatua Madrile\u00f1a, en la X Convocat\u00f2ria d\u2019Ajuts a la Recerca, ha seleccionat un projecte per millorar el diagn\u00f2stic de la s\u00edndrome de Lynch liderat per la investigadora Marta Pineda, del grup de recerca en c\u00e0ncer hereditari de l\u2019Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) i l\u2019Institut Catal\u00e0 d\u2019Oncologia (ICO). L\u2019ajuda concedida \u00e9s de 33.000 euros i t\u00e9 una durada de dos anys.<\/p>\n
Predisposici\u00f3 heredit\u00e0ria al c\u00e0ncer<\/strong><\/p>\n La s\u00edndrome de Lynch \u00e9s una malaltia de predisposici\u00f3 heredit\u00e0ria al c\u00e0ncer causada per mutacions germinals en els gens reparadors de l\u2019ADN. Les fam\u00edlies amb s\u00edndrome de Lynch presenten un risc m\u00e9s elevat de desenvolupar diversos tipus de c\u00e0ncers, sobretot de c\u00f2lon i endometri.<\/p>\n En l\u2019an\u00e0lisi mutacional de gens reparadors sovint s\u2019identifiquen variants gen\u00e8tiques de significat desconegut, de les quals no podem predir el seu significat biol\u00f2gic ni la seva repercussi\u00f3 cl\u00ednica. La identificaci\u00f3 d\u2019una variant de significat desconegut suposa una limitaci\u00f3 important per a la correcta avaluaci\u00f3 del risc de predisposici\u00f3 a c\u00e0ncer. Aquest tipus de variants representa el 30% de les alteracions detectades en l\u2019an\u00e0lisi mutacional de gens reparadors.<\/p>\n L\u2019objectiu del projecte finan\u00e7at per la Fundaci\u00f3 M\u00fatua Madrile\u00f1a \u00e9s estudiar la patogenicitat d\u2019aquestes variants identificades en els gens reparadors MSH2 i MSH6.<\/p>\n El finan\u00e7ament d\u2019aquest projecte suposar\u00e0 la incorporaci\u00f3 de l\u2019estudi funcional d\u2019aquestes variants en la rutina de la Unitat de Diagn\u00f2stic Molecular de l\u2019ICO i una millora significativa en el diagn\u00f2stic molecular de la s\u00edndrome de Lynch.<\/p>\n La determinaci\u00f3 de la patogenicitat d\u2019una variant \u00e9s clau per ajudar a les Unitats de Consell Gen\u00e8tic a fer l\u2019assessorament de les fam\u00edlies i permet l\u2019estudi predictiu de familiars en risc i l\u2019aplicaci\u00f3 de mesures de prevenci\u00f3 i seguiment adequades.<\/p>\n Millores en el diagn\u00f2stic<\/strong><\/p>\n D\u2019altra banda, i coincidint amb l\u2019anunci d\u2019aquest ajut, els investigadors del grup de c\u00e0ncer hereditari de l\u2019IDIBELL i l\u2019ICO, sota la direcci\u00f3 de Gabriel Capell\u00e1, han publicat a la revista Journal of Medical Genetics un estudi que presenta la identificaci\u00f3 de les primeres mutacions en el gen PMS2 a Espanya . En l\u2019estudi tamb\u00e9 han participat l\u2019Institut de Medicina Oncol\u00f3gica y Molecular de Asturias (IMOMA) i la Universitat de Frankfurt.<\/p>\n L\u2019an\u00e0lisi mutacional del gen PMS2 \u00e9s especialment complexa ja que existeixen m\u00faltiples pseudogens (seq\u00fc\u00e8ncies similars a la del nostre gen per\u00f2 que no s\u2019expressen) que el dificulten. L\u2019IMOMA utilitza una metodologia especial que evita els pseudogens i permet identificar les mutacions en PMS2 amb m\u00e9s fiabilitat. Posteriorment, l\u2019estudi funcional de variants de significat desconegut realitzat a l\u2019ICO i a la Universitat de Frankfurt ha perm\u00e8s classificar les variants identificades al gen PMS2.<\/p>\n Aquesta estrat\u00e8gia exhaustiva <\/span>d\u2019estudi molecular en l\u2019an\u00e0lisi gen\u00e8tica del gen PMS2 ha perm\u00e8s la identificaci\u00f3 de mutacions responsables d\u2019aquesta s\u00edndrome en el 69% dels pacients analitzats.<\/p>\n Refer\u00e8ncia de l\u2019article<\/strong> La Fundaci\u00f3 M\u00fatua Madrile\u00f1a, en la X Convocat\u00f2ria d\u2019Ajuts a la Recerca, ha seleccionat un projecte per millorar el diagn\u00f2stic de la s\u00edndrome de Lynch liderat per la investigadora Marta Pineda, del grup de recerca en c\u00e0ncer hereditari de l\u2019Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) i l\u2019Institut Catal\u00e0 d\u2019Oncologia (ICO). L\u2019ajuda concedida \u00e9s de 33.000 […]<\/p>\n","protected":false},"author":6,"featured_media":19828,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[1,332,417,447],"tags":[],"class_list":["post-8528","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categorizar","category-cancer","category-cancer-hereditari-noticies","category-p-de-mecanismes-molelculars-i-terapia-experimental-en-oncologia-oncobell"],"publishpress_future_action":{"enabled":false,"date":"2025-03-02 13:12:03","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8528","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=8528"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8528\/revisions"}],"predecessor-version":[{"id":19829,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8528\/revisions\/19829"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/19828"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8528"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8528"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8528"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\nBorr\u00e0s E., Pineda M., Cadi\u00f1anos J., del Valle J.,Brieger A., Hinrichsen I., Cabanillas R., Navarro M., Brunet J., Sanjuan X., Musulen E., van der Klift H., L\u00e1zaro C., Plotz G., Blanco I. and Capell\u00e1 G. Refining the role of pms2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. Journal of Medical Genetics. 10.1136\/jmedgenet-2012-101511<\/p>\n","protected":false},"excerpt":{"rendered":"