The clinical impact of MRI screening for BRCA mutation carriers: the first report in Japan

Background There is no consensus on the appropriate surveillance for high-risk women with breast cancer in Japan. We investigated their imaging features and pathological characteristics to build a proper surveillance system for asymptomatic high-risk individuals in the future. Methods We retrospecti...

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Bibliographic Details
Published in:Breast cancer (Tokyo, Japan) Japan), 2019-09, Vol.26 (5), p.552-561
Main Authors: Murakami, Wakana, Tozaki, Mitsuhiro, Nakamura, Seigo, Ide, Yoshimi, Inuzuka, Mayuko, Hirota, Yuko, Murakami, Kouzou, Takahama, Noritsugu, Ohgiya, Yoshimitsu, Gokan, Takehiko
Format: Article
Language:English
Subjects:
Adult
Aged
Biopsy
Breast Neoplasms - diagnostic imaging
Breast Neoplasms - genetics
Breast Neoplasms - pathology
Cancer
Cancer Research
Carcinoma, Ductal, Breast - diagnostic imaging
Carcinoma, Ductal, Breast - genetics
Carcinoma, Ductal, Breast - pathology
Female
Follow-Up Studies
Gadobutrol
Gene mutations
Genes, BRCA1
Genes, BRCA2
Genetic aspects
Health aspects
Humans
Japan
Magnetic Resonance Imaging
Mammography
Mass Screening - methods
Medical colleges
Medicine
Medicine & Public Health
Middle Aged
Mutation
Oncology
Oncology, Experimental
Original
Original Article
Public Health Surveillance - methods
Retrospective Studies
Surgery
Surgical Oncology
Young Adult
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Summary:Background There is no consensus on the appropriate surveillance for high-risk women with breast cancer in Japan. We investigated their imaging features and pathological characteristics to build a proper surveillance system for asymptomatic high-risk individuals in the future. Methods We retrospectively reviewed 93 female (median age 43 years) BRCA1 and BRCA2 mutation carriers from our institutional clinical database from 2011 to 2017. The study population was composed of 112 breast cancers. Mammography and MRI were reviewed by examiners blinded to patients’ clinical history. Final surgical or biopsy histopathology served as the reference standard in all the patients. Results Fifty-nine breast cancers met selection criteria; of these, 30 were BRCA1-associated tumors, and 29 were BRCA2-associated tumors. Invasive ductal carcinoma was the most prevalent type in both BRCA1 and BRCA2. There were statistically significant differences in phenotype, nuclear grade, and Ki-67 labeling index between BRCA1 and BRCA2 mutation carriers. Additionally, imaging findings on mammography and MRI were statistically different. Tumors in BRCA2 carriers demonstrated mammographic calcifications more frequently, while those in BRCA1 carriers demonstrated a mass or architectural distortion ( P  
ISSN:1340-6868
1880-4233
DOI:10.1007/s12282-019-00955-6