{"id":5591,"date":"2021-12-10T09:00:26","date_gmt":"2021-12-10T08:00:26","guid":{"rendered":"https:\/\/adntro.com\/?p=5591"},"modified":"2025-08-04T11:57:00","modified_gmt":"2025-08-04T09:57:00","slug":"avances-compresion-molecular-cancer-mama","status":"publish","type":"post","link":"https:\/\/adntro.com\/en\/blog\/learn-genetics\/advances-molecular-compression-cancer-breast\/","title":{"rendered":"Advances in the molecular understanding of aggressive breast cancer"},"content":{"rendered":"<p class=\" translation-block\"><strong><a href=\"https:\/\/adntro.com\/en\/blog\/salud\/cancer-mammary-genetics\/\">Breast cancer<\/a><\/strong> represents the most important neoplasm in women, accounting for up to <strong>15% of global cancer deaths<\/strong> [Globocan, 2018] and Figure 1. Molecular studies have allowed advances in the knowledge of how the development of this neoplasm works and the contribution of <strong>genetic mutations in the aggressiveness, severity and progression of breast cancer.<\/strong>  Although the three best known genes with the highest frequency of mutations in hereditary breast cancer are <em>BRCA1, BRCA2<\/em> and <em>PALB2<\/em>, more genes and\/or genetic variants have recently been identified that could contribute to understanding the progression of the disease.<\/p>\n\n\n\n<div style=\"height:68px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>Distribution of cases and deaths of the most common cancers in 2020.<\/strong><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"352\" height=\"659\" src=\"https:\/\/adntro.com\/wp-content\/uploads\/2021\/12\/casos-cancer-mama.png\" alt=\"Distribution of cases and deaths of the most common cancers in 2020.\" class=\"wp-image-5593\" srcset=\"https:\/\/adntro.com\/wp-content\/uploads\/2021\/12\/casos-cancer-mama.png 352w, https:\/\/adntro.com\/wp-content\/uploads\/2021\/12\/casos-cancer-mama-160x300.png 160w, https:\/\/adntro.com\/wp-content\/uploads\/2021\/12\/casos-cancer-mama-6x12.png 6w\" sizes=\"(max-width: 352px) 100vw, 352px\" \/><\/figure>\n<\/div>\n\n\n<p>Figure 1.<strong> Distribution of cases and deaths for the 10 most common cancers in 2020<\/strong> for (A) Both Sexes, (B) Men, and (C) Women. For each sex, the area of the pie chart reflects the proportion of the total number of cases or deaths; nonmelanoma skin cancers (excluding basal cell carcinoma for incidence) are in2cluded in the \u201cother\u201d category. Source: GLOBOCAN 2020.<\/p>\n\n\n\n<div style=\"height:55px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading translation-block\">Consequences of PIK3CA mutations in tumours.<\/h2>\n\n\n\n<p class=\" translation-block\">As a result of this work, researchers at Imperial College London [Madsen et al., Plos Genetics, 2021], have correlated the <strong>severity and aggressiveness<\/strong> of these tumors with the expression and <strong>presence of mutations in the PIK3CA gene.<\/strong> This gene participates in a biological pathway called PI3K-AKT, widely known for its importance in the maintenance and progression of the cell cycle in cells. Thus, they have seen how those tumors that present a higher expression of the PI3K pathway, mediated by activating (or gain-of-function) mutations in the PIK3CA gene, will be associated with <strong>more aggressive profiles<\/strong> of these tumors, allowing a stratification of patients, compared to those tumors that do not present alterations in the PIK3CA gene.<\/p>\n\n\n\n<p class=\" translation-block\">These studies provide new information and evidence of the <strong>importance<\/strong> of the combination of genetic and transcriptomic combination with the <strong>clinical and evolution profiles of patients with breast cancer.<\/strong> This is of broad relevance, given that selective inhibitors of the PI3K pathway have recently been approved for use in breast cancer patients with mutations in the PIK3CA gene.<\/p>\n\n\n\n<p class=\" translation-block\">This is yet another example that provides evidence of the <strong>importance of genomic medicine applied to personalized <a href=\"https:\/\/adntro.com\/en\/wgs-whole-genome-sequencing\/\">diagnosis<\/a> and treatment,<\/strong> in this case, in patients with neoplasms, as in the case of breast cancer.<\/p>\n\n\n\n<div style=\"height:43px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>Polygenic Risk Scores, use in breast cancer research.<\/strong><\/h3>\n\n\n\n<p>It must be remembered that, in addition, more and more <strong>studies that provide information on how to estimate the risk of breast cancer in the general population<\/strong>, in people with greater family risk or in relatives, <strong>Through the use of<\/strong> what is known as <strong>PRS <\/strong>(&quot;<em>Polygenic Risk Scores<\/em>\"which is no more and no less than the combination of several <a href=\"https:\/\/adntro.com\/en\/blog\/learn-genetics\/what-are-snps\/\">SNPs<\/a>The risk is weighted according to the protective or risk effect of these SNPs as a whole, a method that we use in our studies. <a href=\"https:\/\/adntro.com\/en\/\">DNA TEST<\/a> of ADNTRO. In one of the most relevant studies, it has been seen that individuals who have some variants that confer a higher risk of developing breast cancer, and that, in addition, those who have been diagnosed with breast cancer, and who also have a high PRS, have a higher risk of developing a contralateral breast cancer, and this may have importance in the diagnosis and follow-up of at-risk relatives [<em>Mars et al., Nature Communications, 2020<\/em>].<\/p>","protected":false},"excerpt":{"rendered":"<p>Breast cancer represents the most important neoplasm in women, representing up to 15% of global cancer deaths [Globocan, 2020] Figure 1. Molecular studies have made it possible to advance in the understanding of how the development of this neoplasia works and the contribution of genetic mutations in aggressiveness, severity and progression [\u2026]<\/p>","protected":false},"author":8,"featured_media":5598,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[432],"tags":[42,227,230,231,182,234,18,236,27,232,233,229,237,228,226,145,235],"class_list":["post-5591","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-aprende-genetica","tag-adntro","tag-agresividad","tag-brca1","tag-brca2","tag-diagnostico","tag-gene","tag-genetica","tag-genomica","tag-mutaciones","tag-palb2","tag-pik3ca","tag-progresion","tag-prs","tag-severidad","tag-tags-cancer-de-mama","tag-tratamiento-personalizado","tag-tumor"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v22.0 - 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Biotecn\u00f3loga por la Universidad Francisco de Vitoria, donde recibi\u00f3 dos becas de expediente acad\u00e9mico brillante. Estuvo trabajando en un proyecto de investigaci\u00f3n sobre la asimetr\u00eda izquierda-derecha en Newcastle, siendo premiada en la Conferencia del Centro de Investigaci\u00f3n Cardiovascular Trainees Meeting como el mejor p\u00f3ster (2018). Complet\u00f3 un m\u00e1ster en Biolog\u00eda Computacional en la Universidad Polit\u00e9cnica de Madrid. All\u00ed estudi\u00f3 las redes de interacci\u00f3n metab\u00f3lica en el microbioma de pacientes con Enfermedad de Chron y Colitis Ulcerosa en el centro de investigaci\u00f3n CBGP, centro de Excelencia Severo Ochoa (2020). Desde el 2020 es Bioinform\u00e1tica en ADNTRO donde desarrolla modelos predictivos, realiza anotaciones y an\u00e1lisis de variantes patog\u00e9nicas, investigaci\u00f3n de literatura GWAS y divulgaci\u00f3n cient\u00edfica.","sameAs":["https:\/\/www.linkedin.com\/in\/sandra-ferreiro-lpez-78804016a\/"],"url":"https:\/\/adntro.com\/en\/blog\/author\/sandra\/"}]}},"_links":{"self":[{"href":"https:\/\/adntro.com\/en\/wp-json\/wp\/v2\/posts\/5591","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/adntro.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/adntro.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/adntro.com\/en\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/adntro.com\/en\/wp-json\/wp\/v2\/comments?post=5591"}],"version-history":[{"count":7,"href":"https:\/\/adntro.com\/en\/wp-json\/wp\/v2\/posts\/5591\/revisions"}],"predecessor-version":[{"id":12956,"href":"https:\/\/adntro.com\/en\/wp-json\/wp\/v2\/posts\/5591\/revisions\/12956"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/adntro.com\/en\/wp-json\/wp\/v2\/media\/5598"}],"wp:attachment":[{"href":"https:\/\/adntro.com\/en\/wp-json\/wp\/v2\/media?parent=5591"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/adntro.com\/en\/wp-json\/wp\/v2\/categories?post=5591"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/adntro.com\/en\/wp-json\/wp\/v2\/tags?post=5591"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}