| Title: |
BRCA1/BRCA2 mutations in Japanese women with ductal carcinoma in situ |
| Authors: |
Liu, Yan; Ide, Yoshimi; Inuzuka, Mayuko; Tazawa, Sakiko; Kanada, Yoko; Matsunaga, Yuki; Kuwayama, Takashi; Sawada, Terumasa; Akashi‐Tanaka, Sadako; Nakamura, Seigo |
| Source: |
Molecular Genetics & Genomic Medicine ; volume 7, issue 3 ; ISSN 2324-9269 2324-9269 |
| Publisher Information: |
Wiley |
| Publication Year: |
2019 |
| Collection: |
Wiley Online Library (Open Access Articles via Crossref) |
| Description: |
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 BRCA1/2 mutations. Methods A total of 325 Japanese women with breast cancer (BC) (with or without invasive cancer) were referred for genetic counseling and underwent genetic testing for mutations in the BRCA1 and BRCA2 genes in Showa University Hospital between December 2011 and August 2016. And 49 of them who were pathologically diagnosed as DCIS were included in this study. Logistic regression models were fit to determine the associations between potential predictive factors and BRCA status. A Cox proportional hazards model is used to predictive value of parameters for Ipsilateral breast tumor recurrence (IBTR) and contralateral breast tumor recurrence (CBTR). Results (a) Of 325 patients (with or without invasive cancer), 19.1% (62/325) tested positive for BRCA1 / BRCA2 mutations. And 18.4% (9/49) was positive for BRCA1 / BRCA2 mutations in DCIS, compared with 19.2% (53/276) in IDC ( p = 1.000). Among BRCA mutations, 14.5% (9/62) had DCIS compared with nonmutations (15.2%, 40/263). Incidence of DCIS was 3.0% (1/33) of BRCA1 mutations and 27.5% (8/29) of BRCA2 mutation ( p = 0.009). (b) Median age of diagnosis in BRCA mutation carriers was 39 years, compared with 46 years in noncarriers. Age, Family history (FH) of BC, FH of first or second BC and total number of relatives with BC diagnosis (DX) has significant difference between BRCA mutation carriers and noncarriers in univariate analysis. In a multivariate logistic model, total relatives with BC DX ≥ 2 (odds ratio [OR], 5.128; 95% confidence interval [CI], 1.266–20.763; p = 0.022), age at diagnosis ≤35 years (OR 0.149, 95% CI 0.023–0.954, p = 0.045) and ER+/HER2+ status (OR 5.034, 95% CI 1.092–23.210, p = 0.038) remained as independent significant predictors for BRCA mutation. Ki67 index (cut off by 14% or 30%) did not ... |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| DOI: |
10.1002/mgg3.493 |
| Availability: |
https://doi.org/10.1002/mgg3.493; https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fmgg3.493; https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.493; https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.493 |
| Rights: |
http://creativecommons.org/licenses/by/4.0/ |
| Accession Number: |
edsbas.6AFF6F63 |
| Database: |
BASE |