{"id":25315,"date":"2025-02-12T09:46:57","date_gmt":"2025-02-12T08:46:57","guid":{"rendered":"https:\/\/idibell.cat\/en\/?p=25315"},"modified":"2025-02-12T09:46:57","modified_gmt":"2025-02-12T08:46:57","slug":"new-study-sets-new-recommendations-for-studying-tp53-gene-linked-to-hereditary-cancer","status":"publish","type":"post","link":"https:\/\/idibell.cat\/en\/2025\/02\/new-study-sets-new-recommendations-for-studying-tp53-gene-linked-to-hereditary-cancer\/","title":{"rendered":"New study sets new recommendations for studying TP53 gene linked to hereditary cancer"},"content":{"rendered":"

A team of researchers from the <\/span>Hereditary Cancer group<\/span><\/a> of the Bellvitge Biomedical Research Institute (IDIBELL) and the <\/span>Hereditary Cancer Program<\/span><\/a> (Molecular Diagnostic Laboratory and Genetic Counselling Unit) of the Catalan Institute of Oncology (ICO) has published an innovative study that reassesses the diagnostic criteria for hereditary cancer syndrome related to the <\/span>TP53 <\/span><\/i>gene. Alterations in this gene are responsible for a genetic condition characterised by a high risk of developing some types of tumours, such as breast tumours, brain tumours or sarcomas, among others. In fact, <\/span>TP53 <\/span><\/i>studies are common in young women diagnosed with breast cancer.\u00a0<\/span>\u00a0<\/span><\/p>\n

The results of this study, published in the scientific journal <\/span>Genome Medicine<\/span><\/i><\/a>, highlight the importance of a correct interpretation of the variants of this gene and show that certain alterations, identified in genetic studies, are not hereditary or related to the predisposition to cancer. In addition, this research shows that the current criteria for access to genetic studies are not always met in patients with <\/span>TP53 <\/span><\/i>mutations.<\/span>\u00a0<\/span><\/p>\n

\u00a0<\/span><\/p>\n

A re-evaluation that can substantially benefit patients with alterations in the <\/span><\/b>TP53 <\/span><\/i><\/b>gene<\/span><\/b>\u00a0<\/span><\/p>\n

The research, which has analysed data from more than 6,000 patients, has shown that many people carrying pathogenic variants of the <\/span>TP53 <\/span><\/i>gene may not meet the current clinical criteria and this can make their diagnosis difficult and prevent more targeted medical follow-up. Thus, and thanks to this study, some improvements have been proposed in the evaluation of patients with suspected hereditary cancer related to <\/span>TP53<\/span><\/i>, thus allowing the detection of previously unidentified carriers or the expansion of the use of some genetic tests to detect some more complex alterations.<\/span>\u00a0<\/span><\/p>\n

For the first authors of the study, Paula Rofes and Carmen Castillo, “<\/span>this work highlights the importance of taking into account more cases and, above all, using criteria that reflect the phenotypic diversity of the syndrome in order to offer more accurate diagnoses<\/span><\/i>“, and they add “<\/span>the advances described in the study could benefit a wide variety of patients, and their families, providing more accurate and useful information to clinical practice<\/span><\/i>“.<\/span>\u00a0<\/span><\/p>\n

The study underlines the importance of continuing research into the genetic basis of cancer and being able to improve diagnostic processes to offer each patient more personalized medical care.<\/span>\u00a0<\/span><\/p>\n

\u00a0<\/span><\/p>\n

\u00a0<\/span><\/p>\n

 <\/p>\n

The Bellvitge Biomedical Research Institute (IDIBELL) is a biomedical research center created in 2004. It is participated by the Bellvitge University Hospital and the Viladecans Hospital of the Catalan Institute of Health, the Catalan Institute of Oncology, the University of Barcelona and the City Council of L’Hospitalet de Llobregat.<\/span><\/i>\u00a0<\/span><\/p>\n

IDIBELL is a member of the Campus of International Excellence of the University of Barcelona HUBc and is part of the CERCA institution of the Generalitat de Catalunya. In 2009 it became one of the first five Spanish research centers accredited as a health research institute by the Carlos III Health Institute. In addition, it is part of the “HR Excellence in Research” program of the European Union and is a member of EATRIS and REGIC. Since 2018, IDIBELL has been an Accredited Center of the AECC Scientific Foundation (FCAECC).<\/span><\/i>\u00a0<\/span><\/p>\n","protected":false},"excerpt":{"rendered":"

The importance of a correct interpretation of gene variants is highlighted, since not all of them are hereditary or related to a predisposition to cancer.<\/p>\n","protected":false},"author":8,"featured_media":25318,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"default","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":"set","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":[180,238,264],"tags":[],"class_list":["post-25315","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cancer","category-hereditary-cancer-molecular-mechanisms-and-experimental-therapy-in-oncology-program-oncobell","category-molecular-mechanisms-and-experimental-therapy-in-oncology-program-oncobell"],"publishpress_future_action":{"enabled":false,"date":"2025-04-08 23:30:36","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/25315","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/comments?post=25315"}],"version-history":[{"count":3,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/25315\/revisions"}],"predecessor-version":[{"id":25320,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/25315\/revisions\/25320"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media\/25318"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media?parent=25315"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/categories?post=25315"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/tags?post=25315"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}