Mayuko Inuzuka
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View article: Development of a novel prediction model for carriage of BRCA1/2 pathogenic variant in Japanese patients with breast cancer based on Japanese Organization of Hereditary Breast and Ovarian Cancer registry data
Development of a novel prediction model for carriage of BRCA1/2 pathogenic variant in Japanese patients with breast cancer based on Japanese Organization of Hereditary Breast and Ovarian Cancer registry data Open
Purpose: With the increasing demand for BRCA genetic testing, most existing prediction models were developed using data from individuals of European descent. This study aimed to identify clinicopathological factors of hereditary breast and…
View article: Current Status and Tasks in Surgical Selection for <i>BRCA</i>-positive Individuals
Current Status and Tasks in Surgical Selection for <i>BRCA</i>-positive Individuals Open
2020年4月より,乳癌発症者に対する遺伝性乳癌卵巣癌症候群(hereditary breast and ovarian cancer:HBOC)診断目的のBRCA遺伝学的検査,およびBRCA陽性者に対するリスク低減乳房切除術,リスク低減卵管卵巣摘出術が保険診療となりHBOC診療の転換期を迎えた.当院における保険適用後のBRCA陽性者に対する手術症例11例の現状と課題について検討した.施行術式は,原発性乳癌の手術のみ施行した症例が5例,その他患者の状況により多彩であった.術…
View article: Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome
Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome Open
Panel sequencing of susceptibility genes for hereditary breast and ovarian cancer (HBOC) syndrome has uncovered numerous germline variants; however, their pathogenic relevance and ethnic diversity remain unclear. Here, we examined the prev…
View article: Datasets and metadata supporting the published article: Prevalence of Disease-Causing Genes in Japanese Patients with BRCA1/2-Wildtype Hereditary Breast and Ovarian Cancer Syndrome
Datasets and metadata supporting the published article: Prevalence of Disease-Causing Genes in Japanese Patients with BRCA1/2-Wildtype Hereditary Breast and Ovarian Cancer Syndrome Open
Panel sequencing of susceptibility genes for hereditary breast and ovarian cancer (HBOC) syndrome has uncovered numerous germline variants; however, their pathogenic relevance and ethnic diversity remain unclear.In this study, the authors …
View article: Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation <i>BRCA1</i> L63X
Analysis of clinical characteristics of breast cancer patients with the Japanese founder mutation <i>BRCA1</i> L63X Open
Background: BRCA1 and BRCA2 are high-penetrance inherited genes; different founder mutations have been reported in various areas and races. By using trial registration data from the Japanese hereditary breast and ovarian cancer syndrome (H…
View article: The clinical impact of MRI screening for BRCA mutation carriers: the first report in Japan
The clinical impact of MRI screening for BRCA mutation carriers: the first report in Japan Open
The imaging and histological characteristics of BRCA1/2 mutation carriers were consistent with other countries' studies. MRI-detected lesions were significantly smaller than lesions detected by non-MRI modality. All lesions in BRCA1 mutati…
View article: <i>BRCA1/BRCA2</i> mutations in Japanese women with ductal carcinoma in situ
<i>BRCA1/BRCA2</i> mutations in Japanese women with ductal carcinoma in situ Open
Background Ductal carcinoma in situ (DCIS) is considered a component of the clinical spectrum of breast cancer even in those with BRCA1/2 mutation. The aim of this study was to report the feature of DCIS raised in Japanese women with BRCA1…
View article: Satisfaction with Decision Regarding <i>BRCA1/2</i> Genetic Testing and Willingness to Undergo <i>BRCA1/2</i> Genetic Testing in the Future Among Breast Cancer Patients who Had not Previously Undergone <i>BRCA1/2</i> Genetic Testing in Japan
Satisfaction with Decision Regarding <i>BRCA1/2</i> Genetic Testing and Willingness to Undergo <i>BRCA1/2</i> Genetic Testing in the Future Among Breast Cancer Patients who Had not Previously Undergone <i>BRCA1/2</i> Genetic Testing in Japan Open
Breast cancer patients must make their own decision of whether or not to undergo BRCA1/2 genetic testing. The present study investigated satisfaction surrounding this decision and the willingness to undergo BRCA1/2 genetic testing in the f…