{"id":20315,"date":"2022-04-07T11:00:54","date_gmt":"2022-04-07T09:00:54","guid":{"rendered":"https:\/\/idibell.cat\/en\/?p=20315"},"modified":"2022-04-07T11:17:52","modified_gmt":"2022-04-07T09:17:52","slug":"researchers-identify-the-biological-basis-responsible-for-developing-breast-cancer-in-patients-with-mutations-in-brca1","status":"publish","type":"post","link":"https:\/\/idibell.cat\/en\/2022\/04\/researchers-identify-the-biological-basis-responsible-for-developing-breast-cancer-in-patients-with-mutations-in-brca1\/","title":{"rendered":"Researchers identify the biological basis responsible for developing breast cancer in patients with mutations in BRCA1"},"content":{"rendered":"

Mutations in the BRCA1<\/em> gene are inherited from parents to children and carry a high risk of breast and ovarian cancer. One in 1,000 people are carriers of mutations in this gene, and between 45 and 85% of female carriers will develop a breast tumor before the age of 80<\/strong>. The factors that determine whether to develop cancer or not with the same mutation are still unknown, making it difficult to make decisions. Now, a study by the Bellvitge Biomedical Research Institute (IDIBELL<\/a>) and the Catalan Institute of Oncology (ICO<\/a>) reveals the molecular and cellular mechanisms that determine that two women with the same BRCA1<\/em> mutation are at different risk of cancer.<\/p>\n

In addition, the article published in the journal Nature Communications<\/em><\/strong><\/a> identifies the molecules responsible for increasing the cancer risk<\/strong> in women who already have BRCA1<\/em> mutations, possible therapeutic targets<\/strong> for tumor prevention. To date, prevention strategies followed by women with BRCA1<\/em> gene mutations are limited: frequent mammograms and\/or preventive mastectomies.<\/p>\n

Dr. Miquel \u00c0ngel Pujana<\/strong>, head of the IDIBELL and ICO Breast Cancer research group and leader of the project, states: “Knowing the biological basis of the increased risk of familial breast cancer due to mutations in the BRCA1 gene is key to advance in personalized prevention. Identifying the molecules involved in the origin of BRCA1 mutation-induced tumors could allow us to apply targeted therapies to prevent the development of this type of cancer<\/em>.”<\/p>\n

Overexpression of the HMMR gene increases the risk of cancer in female carriers of BRCA1<\/em> gene mutations<\/h3>\n

Genetic data analysis of more than 130,000 women affected by breast cancer, together with studies in mouse models, has identified HMMR<\/em> gene overexpression as a risk factor. Overexpression of HMMR<\/em> in combination with BRCA1<\/em> mutation alters proper cell division<\/strong> and induces proinflammatory signals that eventually lead to the development of tumors.<\/p>\n

Dr. Francesca Mateo<\/strong>, first author of this study and researcher at IDIBELL and ICO, points out that there are already drugs approved for other diseases that act on the carcinogenic proinflammatory signals that they found. “We would expect being able to develop more effective and safer preventive strategies than current ones by treating women with BRCA1 mutations and HMMR overexpression with these drugs<\/em>,” says Dr. Mateo.<\/p>\n

Funding and collaborations<\/h3>\n

The study was carried out thanks to the collaboration of patient associations: Asociaci\u00f3n de Mujeres Afectadas de C\u00e1ncer de Mama (DACMA), GINKGO Apac del Bergued\u00e0, Viladecans Contra el C\u00e0ncer and “Toca-te-les” from Cornell\u00e0.<\/p>\n

The work has been co-led by Dr. Christopher A. Maxwell<\/strong> of the University of British Columbia in Canada, and Dr. Miquel \u00c0ngel Pujana<\/strong>, from IDIBELL and the ICO. It has also counted on the participation of experts in different areas of research from IDIBELL, ICO and other international institutions.<\/p>\n

 <\/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.<\/em><\/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).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"

A study by IDIBELL and ICO, published in the journal Nature Communications, indicates that overexpression of the HMMR gene in women with BRCA1 mutations alters key cellular processes and accelerates the development of breast cancer.<\/p>\n","protected":false},"author":8,"featured_media":20316,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","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":[232,180,264],"tags":[],"class_list":["post-20315","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-breast-cancer","category-cancer","category-molecular-mechanisms-and-experimental-therapy-in-oncology-program-oncobell"],"publishpress_future_action":{"enabled":false,"date":"2025-03-01 13:58:19","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\/20315","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=20315"}],"version-history":[{"count":1,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/20315\/revisions"}],"predecessor-version":[{"id":20317,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/posts\/20315\/revisions\/20317"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media\/20316"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/media?parent=20315"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/categories?post=20315"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/en\/wp-json\/wp\/v2\/tags?post=20315"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}