Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer

التفاصيل البيبلوغرافية
العنوان: Identification of a BRCA2 mutation in a Turkish family with early-onset breast cancer
المؤلفون: Elifnaz Celik, Gizem Alkurt Sal, Kubra Ermis Tekkus, Gizem Dinler Doganay, Izzet Mehmet Akcay, Fikret Ezberci, Levent Doganay
المصدر: Clinical Case Reports
بيانات النشر: Wiley, 2018.
سنة النشر: 2018
مصطلحات موضوعية: 0301 basic medicine, Turkish, Case Report, Case Reports, Germline, 03 medical and health sciences, BRCA2 Mutation, Breast cancer, BRCA1/2, medicine, genetics, Genetic testing, Early onset, Genetics, medicine.diagnostic_test, business.industry, early‐onset breast cancer, Cancer, General Medicine, medicine.disease, language.human_language, 030104 developmental biology, ATM, multi‐gene panel testing, oncology, language, Identification (biology), business
الوصف: Key Clinical Message We used a multi‐gene panel testing to identify the germline variants in a mother‐daughter pair with early‐onset breast cancer, and detected one pathogenic protein‐truncating variant in BRCA2. Our results highlight the importance of genetic testing in identifying the pathogenic mutation running in cancer families.
تدمد: 2050-0904
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7cfe7d397e712d930d437c838db5302Test
https://doi.org/10.1002/ccr3.1625Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....c7cfe7d397e712d930d437c838db5302
قاعدة البيانات: OpenAIRE