[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"detail-sidebar-cat-0-en-105":3,"doc-seo-381896-105":59,"doc-detail-381896-en":131},{"code":4,"msg":5,"data":6},0,"success",[7,13,18,23,28,33,38,43,48,51,55],{"id":8,"doc_module":4,"doc_module_name":9,"category_name":10,"show_sort_weight":11,"slug":12},1,"Document","Story & Novel",90,"story-novel",{"id":14,"doc_module":4,"doc_module_name":9,"category_name":15,"show_sort_weight":16,"slug":17},2,"Literature",80,"literature",{"id":19,"doc_module":4,"doc_module_name":9,"category_name":20,"show_sort_weight":21,"slug":22},4,"Exam",70,"exam",{"id":24,"doc_module":4,"doc_module_name":9,"category_name":25,"show_sort_weight":26,"slug":27},5,"Comic",60,"comic",{"id":29,"doc_module":4,"doc_module_name":9,"category_name":30,"show_sort_weight":31,"slug":32},6,"Technology",50,"technology",{"id":34,"doc_module":4,"doc_module_name":9,"category_name":35,"show_sort_weight":36,"slug":37},7,"Healthcare",40,"healthcare",{"id":39,"doc_module":4,"doc_module_name":9,"category_name":40,"show_sort_weight":41,"slug":42},8,"Research & Report",30,"research-report",{"id":44,"doc_module":4,"doc_module_name":9,"category_name":45,"show_sort_weight":46,"slug":47},9,"Religion & Spirituality",20,"religion-spirituality",{"id":46,"doc_module":4,"doc_module_name":9,"category_name":49,"show_sort_weight":46,"slug":50},"World Cup","world-cup",{"id":52,"doc_module":4,"doc_module_name":9,"category_name":53,"show_sort_weight":52,"slug":54},10,"Lifestyle","lifestyle",{"id":56,"doc_module":4,"doc_module_name":9,"category_name":57,"show_sort_weight":24,"slug":58},19,"General","general",{"code":4,"msg":60,"data":61},"ok",{"site_id":62,"language":63,"slug":64,"title":65,"keywords":66,"description":67,"schema_data":68,"social_meta":124,"head_meta":126,"extra_data":128,"updated_unix":130},105,"en","phenocopy-in-a-patient-with-triple-negative-breast-cancer-a-case-report","Phenocopy in a patient with triple negative breast cancer - a case report","","A case report describes phenocopy in a 44-year-old female patient with triple-negative breast cancer. Breast cancer affects about 1.67 million people annually worldwide, and a subset is linked to inherited mutations. Phenocopies produce identical phenotypes through environmental factors rather than familial genetic variants. In this case, the mother and sister carried BRCA2 c.1813delA (p.Ile605TyrfsTer9), but the patient’s BRCA1/BRCA2 testing and exome sequencing found no familial or other cancer variants. The report emphasizes clinical relevance of recognizing phenocopy to guide interpretation of genetic risk and counselling.",{"@graph":69,"@context":123},[70,84,106],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":35,"@type":76,"position":81},"https://docshare.wps.com/document/healthcare/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/phenocopy-in-a-patient-with-triple-negative-breast-cancer-a-case-report/381896/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/phenocopy-in-a-patient-with-triple-negative-breast-cancer-a-case-report/381896.png","ImageObject",300,407,{"name":92,"@type":93},"Bulrr","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-11-03","2026-09-24",true,{"@type":102,"interactionType":103,"userInteractionCount":105},"InteractionCounter",{"@type":104},"ViewAction",14,{"@type":107,"mainEntity":108},"FAQPage",[109,115,119],{"name":110,"@type":111,"acceptedAnswer":112},"What is a phenocopy in the context of breast cancer?","Question",{"text":113,"@type":114},"Phenocopy refers to phenotypes identical to those caused by genetic mutations, but triggered by environmental factors rather than familial mutations.","Answer",{"name":116,"@type":111,"acceptedAnswer":117},"What genetic findings were reported for the patient in this case report?",{"text":118,"@type":114},"The patient underwent BRCA1 and BRCA2 testing and exome sequencing, and familial or other cancer variants were not detected.",{"name":120,"@type":111,"acceptedAnswer":121},"Why is identifying phenocopy important clinically?",{"text":122,"@type":114},"Detecting phenocopy helps clinicians interpret cancer risk correctly and inform patients about descendant risk, since the patient was not found to carry the relevant genetic variants.","https://schema.org",{"og:url":83,"og:type":125,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":127,"canonical":83},"index,follow",{"doc_id":129,"site_id":62},381896,1790736786,{"code":4,"msg":5,"data":132},{"doc_id":129,"user_id":133,"nickname":92,"user_avatar":134,"doc_module":4,"category_id":34,"category_name":35,"doc_title":65,"doc_description":67,"doc_content":135,"file_id":136,"file_url":137,"file_type":138,"file_size":139,"view_count":105,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":19,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":52},5909892115043,"https://ap-avatar.wpscdn.com/davatar_6f874abed73319feea01a86fa6f0fab8","Official Publication of the Instituto Israelita de Ensino e Pesquisa Albert Einstein  \nISSN: 1679-4508 | e-ISSN: 2317-6385  \nHow to cite this article:  \nCosta GH, Dias ES, Pegoraro NB, Kohler CN, Raskin S, Mikami LR. Phenocopy in a patient with triple negative breast cancer: a case report. einstein (São Paulo) . 2023;21:eRC0319 .  \nCorresponding author:  \nNaiara Bozza Pegoraro Rua Padre Anchieta, 2,770  \nZip code: 80730-000 – Curitiba, PR, Brazil  \nE-mail: [naiarabpegoraro@gmail.com](naiarabpegoraro@gmail.com)  \nReceived on:  \nSep 12, 2022  \nAccepted on:  \nJuly 24, 2023  \nCopyright the authors  \nThis content is licensed  \nunder a Creative Commons Attribution 4.0 International License.  \nCASE REPORT  \nPhenocopy in a patient with triple negative breast cancer: a case report  \nGustavo Henrique Morcelli da Costa1, Eduarda Scoto Dias1, Naiara Bozza Pegoraro1, Camila Nemetz Kohler2, Salmo Raskin2, Liya Regina Mikami1  \n1 Faculdade Evangélica Mackenzie do Paraná, Curitiba, PR, Brazil.  \n2 Centro de Aconselhamento e Laboratório Genetika, Curitiba, PR, Brazil.  \nDOI: 10.31744/einstein_journal/2023RC0319  \n❚ ABSTRACT  \nA total of 1.67 million breast cancer cases per year are reported worldwide. Of these, 5%–10% are caused by inherited mutations. Phenocopy is a rare phenomenon, with only a few cases reported in the literature. In phenocopies, phenotypes identical to those with genetic origin occur because of environmental factors rather than familial mutations. We describe a case of phenocopy in a 44-year-old female patient with triple-negative breast cancer. The mother and sister wee heterozygous for c. 1813delA, p. Ile605TyrfsTer9 in BRCA2 . The patient underwent genetic testing for BRCA1 and BRCA2 and exome sequencing. Familial or other cancer variants were not detected. The most accepted phenocopy theory is that patients without genetic variants but who are carriers of these mutations undergo cellular changes due to environmental factors, increasing the risk of breast cancer. Therefore, the detection of phenocopy in patients with breast cancer is important in clinical practice.  \nKeywords: Phenotype; Breast neoplasms; Mutation; Genetic predisposition to disease; Genes BRCA1; Genes BRCA2  \n❚ INTRODUCTION  \nBreast cancer is considered the most common malignancy in women and causes approximately 1.67 million new cases per year worldwide.(1) In Brazil, approximately 66,280 new cases were reported in 2022. According to the data from the Instituto Nacional do Câncer, this represents an adjusted incidence rate of 43.74 cases per 100,000 women, which makes breast cancer the number one cause of cancer mortality in the female population.(2)  \nSymptoms are only observed in patients with more advanced stages. These include the formation of a palpable lump with an irregular contour that is usually painless, skin retraction, inversion of the mammary papilla, bloody nipple discharge, breast skin edema, and axillary lymph node enlargement.(3)  \nThe patient’s family history is crucial to verify disease recurrence, especially in first-degree relatives, such as grandmothers, mothers, aunts, and sisters. Patients with breast and/or ovarian cancer segregated in the family, mainly in first-degree relatives, should be examined for the presence of distinct manifestations such as breast pain, sudden weight loss, bone pain, tiredness, and nipple discharge. Therefore, these patients should be screened continuously.(4)  \nSeveral histological types of breast cancer, including molecular variations, have been described. Initially, they were classified as invasive and noninvasive. Noninvasive tumors do not affect the surrounding tissues, with ductal carcinoma in situ and lobular carcinoma in situ being the most common types. In invasive tumors, cancer cells leave the breast tissue, pass through the blood  \neinstein (São Paulo) . 2023;21:1-4  \nand lymphatic vessels, and spread to different regions of the body, such as the brain and lungs. Some types of invasive canc","cbCaiucOQLbBVueb","https://ap.wps.com/l/cbCaiucOQLbBVueb","pdf",214988,"English","# Abstract\n# Introduction\n# Case report","[{\"question\":\"What is a phenocopy in the context of breast cancer?\",\"answer\":\"Phenocopy refers to phenotypes identical to those caused by genetic mutations, but triggered by environmental factors rather than familial mutations.\"},{\"question\":\"What genetic findings were reported for the patient in this case report?\",\"answer\":\"The patient underwent BRCA1 and BRCA2 testing and exome sequencing, and familial or other cancer variants were not detected.\"},{\"question\":\"Why is identifying phenocopy important clinically?\",\"answer\":\"Detecting phenocopy helps clinicians interpret cancer risk correctly and inform patients about descendant risk, since the patient was not found to carry the relevant genetic variants.\"}]","Phenocopy in a patient with triple negative breast cancer - a case report | PDF",1790247629]