{"id":94575,"date":"2026-10-15T15:36:06","date_gmt":"2026-10-15T21:36:06","guid":{"rendered":"https:\/\/www.uchealth.org\/today\/?p=94575"},"modified":"2026-10-15T15:38:05","modified_gmt":"2026-10-15T21:38:05","slug":"brca2-gene-mutation-knowledge-biobank-results","status":"publish","type":"post","link":"https:\/\/www.uchealth.org\/today\/brca2-gene-mutation-knowledge-biobank-results\/","title":{"rendered":"She had no family history of breast cancer. Then a biobank donation led to news that could save her life."},"content":{"rendered":"<div style=\"margin-top: 0px; margin-bottom: 0px;\" class=\"sharethis-inline-share-buttons\" ><\/div><figure id=\"attachment_94609\" aria-describedby=\"caption-attachment-94609\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-94609\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/10\/15111008\/UCHealth-2-Kristine-Ortiz-web.webp\" alt=\"Kristine Ortiz learned she has a gene mutation that puts her at high risk for getting breast and ovarian cancer. She&apos;s focusing on preventive care and will get a double mastectomy in January. Others in her family have followed up with genetic testing, and some also have the BRCA2 gene mutation. Photo by Sonya Doctorian, UCHealth.\" width=\"640\" height=\"426\" \/><figcaption id=\"caption-attachment-94609\" class=\"wp-caption-text\">Kristine Ortiz learned she has a gene mutation that puts her at high risk for getting breast and ovarian cancer. She&#8217;s focusing on preventive care and plans to get a double mastectomy in January. Others in Ortiz&#8217; family have followed up with genetic testing, and some also have the BRCA2 gene mutation. Photo by Sonya Doctorian, UCHealth.<\/figcaption><\/figure>\n<p>Kristine Ortiz had no family history of breast cancer, but years ago, she donated a vial of blood to the Colorado Center for Personalized Medicine\u2019s <a href=\"https:\/\/www.uchealth.org\/services\/biobank\/\">biobank<\/a>, a partnership between UCHealth and <a id=\"\" href=\"https:\/\/www.cuanschutz.edu\/\" target=\"_blank\" rel=\"noopener\">University of Colorado Anschutz<\/a>.<\/p>\n<p>That decision, and Ortiz\u2019 choice to learn about gene mutations that increase her risk of cancer and other diseases, might have saved her life.<\/p>\n<p>That\u2019s because Ortiz, now 36, learned through the biobank that she has the BRCA2 gene mutation, which <a href=\"https:\/\/www.uchealth.org\/today\/why-genetic-testing-for-breast-cancer\/\">significantly increases her risk<\/a> of getting breast cancer.<\/p>\n<p>Since learning she carries a variant of the BRCA2 gene, Ortiz has shared the news with family members and decided to get a preventive double mastectomy in January.<\/p>\n<p>She and her husband have a 2-year-old son and look forward to having more children.<\/p>\n<figure id=\"attachment_94610\" aria-describedby=\"caption-attachment-94610\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-94610\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/10\/15111010\/UCHealth-3-Kristine-Ortiz-Family-web.webp\" alt=\"Jeremy Ortiz holds son, Baker, 2, while Kristine hugs the family dogs, Bear and Hank, on the front porch of their Thornton home. Jeremy is a sergeant with the Broomfield Police Department. \u201cI\u2019m totally supportive of whatever Kristine decides,\u201d he said. \u201cWe\u2019re just taking it step by step, each day at a time.\u201d Photo by Sonya Doctorian, UCHealth.\" width=\"640\" height=\"435\" \/><figcaption id=\"caption-attachment-94610\" class=\"wp-caption-text\">Jeremy Ortiz holds son, Baker, 2, while Kristine hugs the family dogs, Bear and Hank, on the front porch of their Thornton home. Jeremy is a sergeant with the Broomfield Police Department. \u201cI\u2019m totally supportive of whatever Kristine decides,\u201d he said. \u201cWe\u2019re just taking it step by step, each day at a time.\u201d Photo by Sonya Doctorian, UCHealth.<\/figcaption><\/figure>\n<div class=\"su-callout-box col-xs-12 col-sm-6 right\" style=\"background-color:#dce4e7; color:#2e3b44;\">\n<h3><strong>Participating in the biobank is easy. How to get started.<\/strong><\/h3>\n<ul>\n<li><span style=\"font-style: inherit;font-weight: inherit\">Join the biobank by signing a consent form in your <\/span><span style=\"font-style: inherit;font-weight: inherit\"><a href=\"https:\/\/mychart.uchealth.org\/MyChart\/Authentication\/Login?postloginurl=fdiredirect%3fwebid%3dWP-24DrUuwClF4ynTbPmXC1i9PA-3D-3D-24EhON06K-2BLqQp50DkcIx9pHq8dYBDhlTG66G-2Fa-2BwyHc0-3D&amp;mobileaction=https%3a%2f%2fexit.uchealth.org%2fresearchopportunities&amp;_gl=1*1sfqng1*_gcl_au*MTE4ODI0NjAwMy4xNzg2NTcxMzkz*_ga*MTU0NzIzOTg3NC4xNzU0MzIyNTYw*_ga_ERNG3T3DE5*czE3OTE1NzI5NDIkbzg0JGcwJHQxNzkxNTcyOTQyJGo2MCRsMCRoMA..&amp;hideText=1&amp;liteMode=true&amp;forceAuthn=true\" data-auth=\"NotApplicable\" data-outlook-id=\"594bdeab-bdda-4957-b84d-f5bb3581893c\" data-linkindex=\"0\">My Health Connection Account<\/a><\/span><span style=\"font-style: inherit;font-weight: inherit\">.<\/span><\/li>\n<li><span style=\"font-style: inherit;font-weight: inherit\">You must be a UCHealth patient who is age 18 or older.<\/span><\/li>\n<li><span style=\"font-style: inherit;font-weight: inherit\">After you sign up, during an upcoming visit that requires a blood draw, a medical provider will collect an extra vial of blood for the biobank.<\/span><\/li>\n<li><span style=\"font-style: inherit;font-weight: inherit\">Learn more about <\/span><span style=\"font-style: inherit;font-weight: inherit\"><a href=\"https:\/\/www.uchealth.org\/services\/biobank\/\" data-auth=\"NotApplicable\" data-outlook-id=\"be73833e-a366-4495-94df-12acabc40a42\" data-linkindex=\"1\">the biobank<\/a><\/span><span style=\"font-style: inherit;font-weight: inherit\">.<\/span><\/li>\n<\/ul>\n<\/div>\n<p>Learning about the BRCA2 gene mutation through the biobank has been challenging but incredibly valuable to Ortiz.<\/p>\n<p>\u201cIt\u2019s a big impact on our family because this was something that was not on our radar at all,\u201d Ortiz said.<\/p>\n<p>\u201cNow we can make decisions on what\u2019s right for our family, and what steps we want to take.<\/p>\n<p>\u201cIt\u2019s nice to have the education component and understand what it is, and to know that we can take the proper steps and kind of take our own paths.\u201d<\/p>\n<p>Knowing that the BRCA2 mutation runs in the extended family also can help the next generation, Ortiz said.<\/p>\n<p>\u201cAs we have kids, we have to talk to them and educate them, especially with my nieces,\u201d she said.<\/p>\n<figure id=\"attachment_94611\" aria-describedby=\"caption-attachment-94611\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-94611\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/10\/15111012\/UCHealth-6-Kristine-Ortiz-web.webp\" alt=\"Kristine Ortiz at home in Thornton. Photo by Sonya Doctorian, UCHealth.\" width=\"640\" height=\"422\" \/><figcaption id=\"caption-attachment-94611\" class=\"wp-caption-text\">Kristine Ortiz at home in Thornton. Photo by Sonya Doctorian, UCHealth.<\/figcaption><\/figure>\n<h2><strong>Breast cancer prevention efforts began with a biobank donation<\/strong><\/h2>\n<p>Ortiz works in human resources at <a href=\"https:\/\/www.uchealth.org\/locations\/uchealth-longs-peak-medical-center\/\">UCHealth Longs Hospital<\/a> in Longmont and <a href=\"https:\/\/www.uchealth.org\/locations\/uchealth-broomfield-hospital\/\">UCHealth Broomfield Hospital.<\/a><\/p>\n<p>UCHealth patients and employees can join the biobank. When participants opt in, technicians simply collect an extra vial of blood for the biobank at the patient\u2019s next scheduled blood draw.<\/p>\n<figure id=\"attachment_94613\" aria-describedby=\"caption-attachment-94613\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-94613\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/10\/15111120\/UCHealth-CCPM-Esther-Danquah-Blood-Samples-web.webp\" alt=\"Esther Danquah, a lab assistant at the Colorado Center for Personalized Medicine, places blood samples in one of its huge freezers. In the center\u2019s biobank, researchers look for clues in human genes to advance medicine for cancer, heart disease and other conditions. Photo by Sonya Doctorian, UCHealth.\" width=\"640\" height=\"394\" \/><figcaption id=\"caption-attachment-94613\" class=\"wp-caption-text\">Esther Danquah, a lab assistant at the Colorado Center for Personalized Medicine, places blood samples in one of its huge freezers. In the center\u2019s biobank, researchers look for clues in human genes to advance medicine for cancer, heart disease and other conditions. Photo by Sonya Doctorian, UCHealth.<\/figcaption><\/figure>\n<p>Since the biobank launched in 2015, <a id=\"\" href=\"https:\/\/medschool.cuanschutz.edu\/cobiobank\/about\" target=\"_blank\" rel=\"noopener\">study volunteers have provided 200,000 samples<\/a>, making the Colorado biobank one of the largest in the U.S.<\/p>\n<p>The biobank&#8217;s primary aim is to generate research, and so far, Colorado biobank experts have <a href=\"https:\/\/www.uchealth.org\/research-studies\/\">produced more than 200 studies<\/a> on topics including cancer genetics and treatment, heart disease, autoimmune disorders, human ancestry and more.<\/p>\n<h2><strong>Sharing biobank findings with patients<\/strong><\/h2>\n<p>Biobank experts also share findings directly with patients through <a id=\"\" href=\"https:\/\/medschool.cuanschutz.edu\/cobiobank\/return-of-results#typesofresults\" target=\"_blank\" rel=\"noopener\">two pathways<\/a>.<\/p>\n<p>One is called pharmacogenetics. Through this pathway, biobank experts enter genetic findings directly into a UCHealth patient\u2019s <a href=\"https:\/\/www.uchealth.org\/access-my-health-connection\/\">My Health Connection medical record<\/a>.<\/p>\n<figure id=\"attachment_94607\" aria-describedby=\"caption-attachment-94607\" style=\"width: 400px\" class=\"wp-caption alignright\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-94607\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/10\/15111000\/UCHealth-4-Kristine-and-Baker-Ortiz-web.webp\" alt=\"Kristine holding her son. \u201cMy young son is my priority,\u201d Ortiz said. \u201cSurgery is not the worst case. Getting sick is the worst case.\u201d Photo by Sonya Doctorian, UCHealth.\" width=\"400\" height=\"462\" \/><figcaption id=\"caption-attachment-94607\" class=\"wp-caption-text\">\u201cMy young son is my priority,\u201d Ortiz said. \u201cSurgery is not the worst case. Getting sick is the worst case.\u201d Photo by Sonya Doctorian, UCHealth.<\/figcaption><\/figure>\n<p>The genetic findings can help medical providers prescribe optimal medications. For instance, people with <a href=\"https:\/\/www.uchealth.org\/today\/biobank-delivers-vital-genetic-info-saving-lives-improving-patient-care\/\">certain genes may metabolize medications differently<\/a>. A cancer doctor might avoid giving a patient a specific type of chemotherapy medication that could cause more severe effects in that person. Or a certain type of statin medication could cause painful muscle cramping in some patients.<\/p>\n<p>Biobank experts now have sent more than 1.5 million pharmacogenetic results back to over 137,000 participants.<\/p>\n<p>The second pathway involves patients who want to be notified about potentially concerning gene variants that increase the risk of cancer, <a href=\"https:\/\/www.uchealth.org\/today\/genetic-testing-finds-hereditary-cardiomyopathy-a-heart-muscle-disease\/\">heart disease<\/a> and other diseases.<\/p>\n<p>In these cases, a biobank counselor will contact participants to discuss genetic findings.<\/p>\n<p>So far, biobank counselors have provided results to more than 1,500 UCHealth patients who have genetic variants linked to disease. Roughly 40% have been cancers, another 40% have had to do with heart disease, and the rest have related to <a href=\"https:\/\/www.uchealth.org\/today\/mom-learned-of-genetic-risk-for-arvc-after-donating-her-blood-to-biobank\/\">other genetic risks<\/a>.<\/p>\n<h2><strong>Patients decide whether they want to know about disease-linked genetic variants <\/strong><\/h2>\n<p>Biobank experts don\u2019t automatically share findings about disease-risk gene variants. Sometimes, patients don\u2019t want to know if they have gene variants that increase disease risk.<\/p>\n<p>And counselors share results only for conditions that can be medically confirmed and have screening, treatment or therapy options, said <a id=\"\" href=\"https:\/\/som.cuanschutz.edu\/Profiles\/Faculty\/Profile\/21031\" target=\"_blank\" rel=\"noopener\">Emily Todd<\/a>, a genetic counselor with the Colorado Center for Personalized Medicine.<\/p>\n<p>But 30 to 40 times a month, Todd and fellow genetic counselor <a id=\"\" href=\"https:\/\/som.cuanschutz.edu\/Profiles\/Faculty\/Profile\/18911\" target=\"_blank\" rel=\"noopener\">Lisen Axell<\/a> provide patients with a disease-risk genetic finding.<\/p>\n<p>In October 2025, Ortiz was one of those patients.<\/p>\n<p>The biobank\u2019s genetic screening detected a BRCA2 mutation. The mutation <a id=\"\" href=\"https:\/\/www.cancer.gov\/about-cancer\/causes-prevention\/genetics\/brca-fact-sheet\" target=\"_blank\" rel=\"noopener\">boosts a woman\u2019s risk<\/a>\u00a0of breast cancer from an average of about 13% to more than 60% by age 70. It also increases the usual 1% risk of ovarian cancer to 13% to 29%.<\/p>\n<figure id=\"attachment_94608\" aria-describedby=\"caption-attachment-94608\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-94608\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/10\/15111006\/UCHealth-1-Kristine-Ortiz-web.webp\" alt=\"Kristine Ortiz took up running half marathons last September, just before she received her genetic test results. So far, she has finished three. She\u2019s more committed to running than ever and is determined to go into her January surgery feeling strong and optimistic. Photo by Sonya Doctorian, UCHealth.\" width=\"640\" height=\"406\" \/><figcaption id=\"caption-attachment-94608\" class=\"wp-caption-text\">Kristine Ortiz took up running half marathons last September, just before she received her genetic test results. So far, she has finished three. She\u2019s more committed to running than ever and is determined to go into her January surgery feeling strong and optimistic. Photo by Sonya Doctorian, UCHealth.<\/figcaption><\/figure>\n<h2><strong>Disease-risk gene variants beg complex questions, trigger care<\/strong><\/h2>\n<p>Back when Ortiz signed up for the biobank study, she said she wanted to be informed of disease-related results.<\/p>\n<p>Still, when Todd called Ortiz, she again confirmed that Ortiz wanted to know about a finding before she shared the news.<\/p>\n<p>Todd had already checked Ortiz\u2019s medical record and confirmed that the BRCA2 gene mutation had not yet been noted. If Ortiz or her doctors already knew she had the mutation, biobank counselors would not have reached out.<\/p>\n<p>While speaking with Ortiz, Todd explained the potential impacts of knowing about a genetic susceptibility to disease. Those impacts can span healthcare, employment and the ability to get life insurance.<\/p>\n<p>\u201cThere\u2019s a lot to unpack for people trying to decide if they want to receive a genetic result,\u201d Todd said.<\/p>\n<p>Ortiz still wanted to know. On a separate call, Todd walked her through what having the BRCA2 mutation means and the care path Ortiz might consider. Not everyone does the recommended follow-up. Ortiz did. She scheduled a mammogram and an MRI. She also set up appointments with <a href=\"https:\/\/www.uchealth.org\/services\/genetic-testing-and-counseling\/\">UCHealth genetic counseling<\/a> experts, <a href=\"https:\/\/www.uchealth.org\/diseases-conditions\/gynecological-cancers\/\">gynecologic oncology<\/a>, and <a href=\"https:\/\/www.uchealth.org\/services\/dermatology\/\">dermatology<\/a> specialists and with <a href=\"https:\/\/www.uchealth.org\/provider\/meredith-bales-agpcnp-bc\/\">Meredith Bales<\/a>, the nurse practitioner who would take the lead on Ortiz\u2019s care at <a href=\"https:\/\/www.uchealth.org\/locations\/uchealth-cancer-care-and-hematology-loveland\/\">UCHealth Cancer Care and Hematology Clinic &#8211; Loveland<\/a>.<\/p>\n<h2><strong>Telling extended family members about gene variants linked to disease<\/strong><\/h2>\n<p>Ortiz didn\u2019t stop there. She let her family know, and several immediate and extended family members have since gone for genetic testing. Some also had the high-risk BRCA2 variant. Ortiz\u2019 mom, Dina Whittier, 69, was among them. She\u2019s undergoing testing and is contemplating preventative surgery like her daughter.<\/p>\n<figure id=\"attachment_94612\" aria-describedby=\"caption-attachment-94612\" style=\"width: 640px\" class=\"wp-caption aligncenter\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-94612\" src=\"https:\/\/uchealth-wp-uploads.s3.amazonaws.com\/wp-content\/uploads\/sites\/6\/2026\/10\/15111118\/UCHealth-7-Kristine-Ortiz-web.webp\" alt=\"Kristine with her family in their living room. Jeremy helps Baker back to his feet after he was showing off for his parents. Photo by Sonya Doctorian, UCHealth.\" width=\"640\" height=\"455\" \/><figcaption id=\"caption-attachment-94612\" class=\"wp-caption-text\">Jeremy helps Baker back to his feet after he was showing off for his parents. Photo by Sonya Doctorian, UCHealth.<\/figcaption><\/figure>\n<h2><strong>Biobank finding leads to surgery to prevent breast cancer<\/strong><\/h2>\n<p>Ortiz\u2019s love for her son Baker, 2, and her desire to have more children with husband Jeremy led her to opt for the double mastectomy.<\/p>\n<p>Todd said she\u2019s pleased that the biobank study has helped Ortiz and her family guide their healthcare.<\/p>\n<p>\u201cThis is the reason we share this information with people. Then they can take the right steps, inform their families, and, if they do develop one of these conditions, we catch it early,\u201d Todd said.<\/p>\n<p>Catching breast cancer early can make a huge difference. <a href=\"https:\/\/www.uchealth.org\/diseases-conditions\/breast-cancer\/\">Early detection and treatment can mark the difference<\/a> between a 99% five-year breast cancer survival rate when doctors catch the cancer early and it hasn\u2019t spread, versus a 32% five-year survival rate if the cancer has spread widely.<\/p>\n<p>Ortiz has no intention of letting cancer gain even a foothold.<\/p>\n<p>\u201cThey changed my life, right? And my family\u2019s life, and how we approach healthcare,\u201d she said. \u201cThis is not something I would have ever thought to test for.\u201d<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Kristine Ortiz had no family history of breast cancer, but years ago, she donated a vial of blood to the Colorado Center for Personalized Medicine\u2019s biobank, a partnership between UCHealth and University of Colorado Anschutz. That decision, and Ortiz\u2019 choice to learn about gene mutations that increase her risk of cancer and other diseases, might [&hellip;]<\/p>\n","protected":false},"author":23,"featured_media":94609,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"categories":[5,7],"tags":[9085,6835,28,167,47,4781],"class_list":["post-94575","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-innovative-care","category-stories","tag-biobank","tag-breast-cancer-treatment","tag-cancer-care-oncology","tag-clinical-trials","tag-genetic-testing-and-counseling","tag-research-in-health-care"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v28.5 (Yoast SEO v28.5) - https:\/\/yoast.com\/product\/yoast-seo-premium-wordpress\/ -->\n<title>She had no family history of breast cancer. Then a biobank revealed a BRCA2 mutation. - UCHealth Today<\/title>\n<meta name=\"description\" content=\"Learning she has a BRCA2 mutation gave Kristine Ortiz and her family crucial information about breast cancer risk and preventive care.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.uchealth.org\/today\/brca2-gene-mutation-knowledge-biobank-results\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"She had no family history of breast cancer. 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