Abstract
PurposeProphylactic surgery is a preemptive strategy for hereditary breast and ovarian cancer (HBOC). Prophylactic mastectomy (PM) reduces breast cancer risk by > 90%. The aim of our study is to analyze the information of the Japanese pedigrees and to utilize the results for clinical practice.MethodsWe statistically analyzed records of HBOC registrees who had undergone BRCA1/2 genetic testing at seven medical institutions up until 2016. In the cases of PM, we examined breasts with the use of mammography (MMG), ultrasound (US), and magnetic resonance imaging (MRI) before surgery. After PM, the specimens were divided about 1 cm serially and examined in their entirety.ResultsOf 1527 registrees who underwent BRCA testing, 1125 (73.7%) were negative for BRCA1/2 mutation, 297 (19.5%) were positive for BRCA1/2 mutation (BRCA1/2MUT+), and 105 (6.9%) had uncertain results. To decide whether to undergo total mastectomy vs. breast-conserving surgery (BCS), 370 registrees underwent presurgical genetic testing. During the follow-up period, four new-onset breast cancers were found among the 55 non-affected BRCA carriers. Among the 73 BRCA1/2MUT+ carriers who underwent BCS, 3 were found to have ipsilateral breast cancer. Of 189 BRCA1/2MUT+ carriers with unilateral breast cancer, 8 were found to have contralateral breast cancer. Of 53 PM specimens, 6 (11.3%) were found to have occult breast cancer despite using MMG, US, and MRI.ConclusionsOur report showed a relatively higher incidence rate of occult cancer at 11.3% in PM specimens despite thorough pre-operative radiological evaluations, which included a breast MRI. Considering the occult cancer rates and the various pathological methods of our study and published studies, we propose the necessity of a histopathological protocol.
Highlights
The breast cancer rate tends to peak at a younger range in Japan than in Western countries [1,2,3]
In the cases of Prophylactic mastectomy (PM), we examined breasts with the use of mammography (MMG), ultrasound (US), and magnetic resonance imaging (MRI) before surgery
Distribution of age at onset of breast cancer with/without BRCA1/2 mutations (Fig. 3) shows that BRCA1/2MUT+ breast cancer occurred at a younger mean age (41.7 years) than did BRCA1/2MUT− breast cancer (45.8 years)
Summary
The breast cancer rate tends to peak at a younger range in Japan than in Western countries [1,2,3]. About half of breast cancer diagnoses in Japan are for patients in their 30s–50s [2]. As this pattern probably reflects their genetic background, investigations of hereditary breast and ovarian cancer (HBOC) are important for Japanese women. Age 22–85 (age 45.4) 3 cases detection of invasive cancers and DCIS, regardless of mutation status, age, or breast density; their improved results for MRI sensitivity might be explained by technical advances, improved diagnostic criteria, and greater familiarity of radiologists in reading breast MRIs, including the ability to diagnose DCIS with MRI [17, 18]. Ohuchi et al [20] from Japan reported that the sensitivity of MMG + US for asymptomatic women aged 40–49 years with no history of any cancer in the previous 5 years was 91.1%
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