Five screening-detected breast cancer cases in initially disease-free BRCA1 or BRCA2 mutation carriers

التفاصيل البيبلوغرافية
العنوان: Five screening-detected breast cancer cases in initially disease-free BRCA1 or BRCA2 mutation carriers
المؤلفون: Mitsue Saito, Mizuho Kita, Masami Arai, Eri Nakashima, Rie Horii, Reiko Yoshida, Satoko Shimada, Futoshi Akiyama, Shinji Ohno, Dai Kitagawa, Yuumi Ashihara, Sayoko Takeuchi, Naoya Gomi
المصدر: Breast Cancer (Tokyo, Japan)
بيانات النشر: Springer Science and Business Media LLC, 2019.
سنة النشر: 2019
مصطلحات موضوعية: 0301 basic medicine, Oncology, endocrine system diseases, Genes, BRCA2, Genes, BRCA1, Case Report, Disease, 0302 clinical medicine, Surgical oncology, Mass Screening, Pharmacology (medical), skin and connective tissue diseases, Early Detection of Cancer, Mastectomy, medicine.diagnostic_test, BRCA1 Protein, Incidence (epidemiology), General Medicine, Middle Aged, Magnetic Resonance Imaging, Breast cancer incidence, Treatment Outcome, 030220 oncology & carcinogenesis, Female, Mammography, Adult, Risk, Screening-detected breast cancer, medicine.medical_specialty, Breast Neoplasms, BRCA2 mutation carrier, 03 medical and health sciences, Breast cancer, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Radiology, Nuclear Medicine and imaging, Genetic Testing, Tokyo, BRCA1 mutation carrier, Genetic testing, BRCA2 Protein, business.industry, BRCA mutation, medicine.disease, 030104 developmental biology, Mutation, Ovarian cancer, business
الوصف: Individuals carrying pathogenic BRCA1 or BRCA2 mutations have an increased lifetime risk of breast and/or ovarian cancer. The incidence of breast cancer amongst disease-free BRCA mutation carriers under surveillance and the clinical and pathological characteristics of those who subsequently develop the disease remain unclear in Japan. We reviewed the records of 155 individuals with BRCA1 or BRCA2 mutations identified by genetic testing between January 2000 and December 2016. At the time of genetic testing, 26 individuals with one of these mutations had no history of breast cancer and were therefore enrolled in a surveillance program that included biannual ultrasonography, clinical breast examination, annual mammography, and conditional magnetic resonance imaging for the early detection of primary breast cancer. During the surveillance period, 5 individuals with BRCA1 or BRCA2 mutations were diagnosed with primary breast cancer. The mean surveillance duration until breast cancer diagnosis was 48 months. The incidence of primary breast cancer during surveillance in initially disease-free BRCA mutation carriers was 4.23%/year. In two cases, the tumors were only detectable on MRI. The case 5 patient who presented with a tumor that was detected by self-examination, which then grew rapidly, had stage IIB triple-negative breast cancer. In conclusion, our results show that some challenges exist in the early detection of breast cancers in BRCA1 or BRCA2 mutation carriers. There are also some difficulties in approaching those individuals in Japanese society.
تدمد: 1880-4233
1340-6868
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2d60b93408569b618e7cdc6767239c7Test
https://doi.org/10.1007/s12282-019-00971-6Test
حقوق: OPEN
رقم الانضمام: edsair.doi.dedup.....c2d60b93408569b618e7cdc6767239c7
قاعدة البيانات: OpenAIRE