{"id":165256,"date":"2020-10-15T08:56:11","date_gmt":"2020-10-15T12:56:11","guid":{"rendered":"https:\/\/today.uconn.edu\/?p=165256"},"modified":"2023-06-27T12:50:12","modified_gmt":"2023-06-27T16:50:12","slug":"genetic-testing-breast-cancer-reveals-rare-disorder","status":"publish","type":"post","link":"https:\/\/today.uconn.edu\/2020\/10\/genetic-testing-breast-cancer-reveals-rare-disorder\/","title":{"rendered":"Genetic Testing for Breast Cancer Reveals Rare Disorder"},"content":{"rendered":"

An odd lump on Elizabeth Cowles Johnston\u2019s breast prompted a Friday morning call to her primary care physician Rebecca Andrews<\/a> at UConn Health.<\/a><\/p>\n

Dr. Andrews quickly fit her in, and upon checking the lump sent her to Dr. Alex Merkulov,<\/a> Section Head of Women\u2019s Imaging at the Beekley Imaging Center at UConn Health<\/a> for a mammogram and ultrasound.\u00a0 The following Monday she had a biopsy of her breast and by that Wednesday she had the diagnosis of breast cancer.<\/p>\n

\u201cIt was all very quick,\u201d says Johnston.<\/p>\n

To determine the stage of her breast cancer, Dr. Susan Tannenbaum<\/a>, chief of the Division of Hematology and Oncology in the Department of Medicine<\/a> and the clinical director of the Carole and Ray Neag Comprehensive Cancer Center at UConn Health<\/a>, ordered a PET Scan and was surprised to find a concerning spot on her lung. The lung cancer was early and not related to breast cancer, which means it hadn\u2019t spread from the breast.\u00a0 It was determined she was stage 3 breast cancer and that was the biggest concern for Tannenbaum as she put together a treatment plan for the breast cancer.<\/p>\n

\"\"Tannenbaum suggested genetic testing because of the two separate cancers.\u00a0\u00a0 Johnston was diagnosed with Li-Fraumeni syndrome (LFS). LFS is rare and associated with a tumor-suppressor gene, known as TP53. The resulting protein is rendered useless and unable to help prevent tumors from developing.<\/p>\n

At 37, Elizabeth was older for the LFS diagnosis, typically diagnosed in children and young adults and makes them most susceptible to developing several multiple cancers, most notably soft-tissue and bone sarcomas, breast cancer, brain tumors, adrenocortical carcinoma, and acute leukemia. Other cancers seen in LFS patients include gastrointestinal cancers and cancers of the lung, kidney, thyroid, and skin, as well as in gonadal organs (ovarian, testicular, and prostate.)<\/p>\n

Diagnosed with a genetic disorder, Elizabeth did not hesitate to have her two young children tested right away.\u00a0 They each had a 50\/50 chance of inheriting the gene, and it was a huge relief when they were both determined not to have it.<\/p>\n

\u201cJennifer Stroop was our genetic counselor at UConn Health and she was so good about explaining everything to me and my family in a way it made sense and helping my extended family with the genetic testing process,\u201d says Johnston.<\/p>\n

Individuals with LFS have an approximately 50% chance of developing cancer by age 40, and up to a 90% percent chance by age 60, while females have nearly a 100% risk of developing cancer in their lifetime due to their markedly increased risk of breast cancer. Many individuals with LFS develop two or more primary cancers over their lifetimes.<\/p>\n

\u201cI now have a team of incredibly smart people all working together for me,\u201d says Johnston who following her diagnosis was referred by Tannenbaum to Dana-Farber\u2019s Cancer Genetics and Prevention specialists at its Li-Fraumeni Clinic.<\/p>\n

Johnston underwent six rounds of chemotherapy, a bi-lateral mastectomy, a lung wedge resection, followed by radiation.<\/p>\n

Johnston was the first patient that Tannenbaum and Dr. Dana Scott,<\/a> Breast Health, and Cancer Genetics Specialist at the high-risk clinic at the Neag Comprehensive Cancer Center had treated.\u00a0 \u201cThey both were open to researching and creating new protocols for my care and connecting with specialists as needed,\u201d says Johnston.<\/p>\n

Johnston is currently cancer-free, however, has to be vigilant and assertive about her health, often having to educate other doctors about her LFS.<\/p>\n

It has been widely accepted that early cancer detection can greatly increase overall survival, and those diagnosed with LFS should seek to adhere to preventive screening. Johnston has to undergo regular screenings including colonoscopy, lung scans, dermatology check, blood draws, and five different MRIs.<\/p>\n

Johnston participated in a clinical trial at Dana-Farber for whole-body MRI scanning that allows doctors to look at the entire body in one examination without radiation exposure.<\/p>\n

\u201cThe team at UConn Health has been so proactive about the research and protocol for this,\u201d says Johnston.<\/p>\n

\u201cWe are thrilled that we are almost ready to launch whole-body MRI for screening for our Li-Fraumeni patient,\u201d says Tannenbaum. \u201cDr. Leo Wolansky<\/a>, Chair, Department of Diagnostic Imaging, and Therapeutics<\/a> has been instrumental to us having this option.\u201d<\/p>\n

It\u2019s been five years since her diagnosis and Johnston has an amazing outlook. \u201cEveryone\u2019s experience and how they got there is different,\u201d she says.<\/p>\n

She doesn\u2019t get what is known as \u201cscanxiety\u201d because she believes that knowing her genetics and understanding LFS, she has control over her decisions.\u00a0\u00a0 \u201cYou can\u2019t change what the result will be from the scan,\u201d says Johnston.\u00a0 \u201cIt\u2019s important to know what we have control over and what we can do about it.\u201d<\/p>\n

Mental health has been an important part of Johnston\u2019s recovery and her outlook on life.<\/p>\n

Throughout the treatments, Dr. Tannenbaum was concerned about the mental health of Johnston and her family, checking in on them regularly and referring Johnston to a therapist from the cancer center.<\/p>\n

Proactive testing has helped Johnston from a mental health perspective so there is no \u201cwhat if.\u201d<\/p>\n

Johnston\u2019s advice to others is to be aware of what is happening with your own body including the importance of paying attention to your mental health.<\/p>\n

Patients can schedule a screening mammogram<\/a> without a referral online.\u00a0 For more information visit UConn Health<\/a> or the Carole and Ray Neag Comprehensive Cancer Center.<\/a><\/p>\n

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

An odd lump on Elizabeth Cowles Johnston\u2019s breast prompted a Friday morning call to her primary care physician Rebecca Andrews at UConn Health. Dr. Andrews quickly fit her in, and upon checking the lump sent her to Dr. Alex Merkulov, Section Head of Women\u2019s Imaging at the Beekley Imaging Center at UConn Health for a […]<\/p>\n","protected":false},"author":139,"featured_media":165259,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_crdt_document":"","wds_primary_category":0,"wds_primary_series":0,"wds_primary_attribution":0,"footnotes":""},"categories":[2230,1868,179,2295],"tags":[],"magazine-issues":[],"coauthors":[2209],"class_list":["post-165256","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-cancer","category-meds","category-uconn-health","category-womens-health"],"pp_statuses_selecting_workflow":false,"pp_workflow_action":"current","pp_status_selection":"publish","acf":[],"publishpress_future_action":{"enabled":false,"date":"2026-04-29 05:28:58","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category","extraData":[]},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/165256","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/users\/139"}],"replies":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/comments?post=165256"}],"version-history":[{"count":4,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/165256\/revisions"}],"predecessor-version":[{"id":165385,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/posts\/165256\/revisions\/165385"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/media\/165259"}],"wp:attachment":[{"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/media?parent=165256"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/categories?post=165256"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/tags?post=165256"},{"taxonomy":"magazine-issue","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/magazine-issues?post=165256"},{"taxonomy":"author","embeddable":true,"href":"https:\/\/today.uconn.edu\/wp-rest\/wp\/v2\/coauthors?post=165256"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}