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

Content Provider	Europe PMC
Author	Shimada, Satoko Yoshida, Reiko Nakashima, Eri Kitagawa, Dai Gomi, Naoya Horii, Rie Takeuchi, Sayoko Ashihara, Yuumi Kita, Mizuho Akiyama, Futoshi Ohno, Shinji Saito, Mitsue Arai, Masami
Abstract	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.
Related Links	https://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC6821909&blobtype=pdf
ISSN	13406868
Journal	Breast Cancer (Tokyo, Japan) [Breast Cancer]
Volume Number	26
DOI	10.1007/s12282-019-00971-6
PubMed Central reference number	PMC6821909
Issue Number	6
PubMed reference number	30980249
e-ISSN	18804233
Language	English
Publisher	Springer Japan
Publisher Date	2019-04-12
Publisher Place	Tokyo
Access Restriction	Open
Rights License	Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. © The Author(s) 2019
Subject Keyword	BRCA1 mutation carrier BRCA2 mutation carrier Screening-detected breast cancer Breast cancer incidence
Content Type	Text
Resource Type	Article
Subject	Radiology, Nuclear Medicine and Imaging Pharmacology (medical) Oncology