{"title":"乳腺癌患者的诊断和治疗与BRCA1/2基因突变","authors":"Joanna Kufel-Grabowska, Bartosz Wasąg","doi":"10.5603/ocp.2023.0035","DOIUrl":null,"url":null,"abstract":"Breast cancer is the most common cancer among women in Poland and worldwide, second only to lung cancer in terms of mortality. Germline mutations account for approximately 5–10% of all breast cancer cases, with mutations in the BRCA1/2 genes being the most frequently identified. The presence of pathogenic variants in the BRCA1/2 genes is associated with a more than 60% risk of developing breast cancer, a 40–60% risk of ovarian cancer in women with a BRCA1 mutation, and a 13–30% risk in women with a BRCA2 variant. Breast cancer is often diagnosed at a younger age in BRCA1/2 mutation carriers. The prevalence and increased accessibility of genetic testing, especially next-generation sequencing, lead to a higher number of diagnosed individuals and healthy family members. Identifying a pathogenic variant in the BRCA1/2 genes, analyzing a family history, and genetic counseling enables the development of individual recommendations for further management. This article aims to present the diagnostic and therapeutic approach in breast cancer patients with a pathogenic variant in the BRCA1/2 genes.","PeriodicalId":42942,"journal":{"name":"Oncology in Clinical Practice","volume":"20 2","pages":"0"},"PeriodicalIF":0.3000,"publicationDate":"2023-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Diagnosis and treatment of patients with breast cancer and mutation in the BRCA1/2 genes\",\"authors\":\"Joanna Kufel-Grabowska, Bartosz Wasąg\",\"doi\":\"10.5603/ocp.2023.0035\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Breast cancer is the most common cancer among women in Poland and worldwide, second only to lung cancer in terms of mortality. Germline mutations account for approximately 5–10% of all breast cancer cases, with mutations in the BRCA1/2 genes being the most frequently identified. The presence of pathogenic variants in the BRCA1/2 genes is associated with a more than 60% risk of developing breast cancer, a 40–60% risk of ovarian cancer in women with a BRCA1 mutation, and a 13–30% risk in women with a BRCA2 variant. Breast cancer is often diagnosed at a younger age in BRCA1/2 mutation carriers. The prevalence and increased accessibility of genetic testing, especially next-generation sequencing, lead to a higher number of diagnosed individuals and healthy family members. Identifying a pathogenic variant in the BRCA1/2 genes, analyzing a family history, and genetic counseling enables the development of individual recommendations for further management. This article aims to present the diagnostic and therapeutic approach in breast cancer patients with a pathogenic variant in the BRCA1/2 genes.\",\"PeriodicalId\":42942,\"journal\":{\"name\":\"Oncology in Clinical Practice\",\"volume\":\"20 2\",\"pages\":\"0\"},\"PeriodicalIF\":0.3000,\"publicationDate\":\"2023-10-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Oncology in Clinical Practice\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5603/ocp.2023.0035\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"ONCOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Oncology in Clinical Practice","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5603/ocp.2023.0035","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"ONCOLOGY","Score":null,"Total":0}
Diagnosis and treatment of patients with breast cancer and mutation in the BRCA1/2 genes
Breast cancer is the most common cancer among women in Poland and worldwide, second only to lung cancer in terms of mortality. Germline mutations account for approximately 5–10% of all breast cancer cases, with mutations in the BRCA1/2 genes being the most frequently identified. The presence of pathogenic variants in the BRCA1/2 genes is associated with a more than 60% risk of developing breast cancer, a 40–60% risk of ovarian cancer in women with a BRCA1 mutation, and a 13–30% risk in women with a BRCA2 variant. Breast cancer is often diagnosed at a younger age in BRCA1/2 mutation carriers. The prevalence and increased accessibility of genetic testing, especially next-generation sequencing, lead to a higher number of diagnosed individuals and healthy family members. Identifying a pathogenic variant in the BRCA1/2 genes, analyzing a family history, and genetic counseling enables the development of individual recommendations for further management. This article aims to present the diagnostic and therapeutic approach in breast cancer patients with a pathogenic variant in the BRCA1/2 genes.