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Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.

ABSTRACT: Due to lack of systematic reviews, BRCA, DNA Repair Associated (BRCA) mutations in the Chinese population are not completely understood. The following study investigates the prevalence and type of BRCA mutations in Chinese patients with high hereditary risk of breast cancer (BC). Patients Drwere recruited from 14 cities between October 2015 and February 2016, and were selected based on family and personal medical history. BRCA mutations were analyzed by collecting blood samples from all participants. 437 BC patients were included. A total of seventy-six (17.4%) mutation carriers were identified with no geographic difference. The mutation rate in the early-onset BC patients was lower compared to family history of breast/ovarian cancer (OC), bilateral BC, male BC, BC&OC or meeting ?2 criteria (9.2 vs. 21.7, 24.0, 22.2, 16.7 and 24.3%, respectively, P=0.007). A total of 61 mutation sites were identified (BRCA1 32, BRCA2 29) including 47.5% novel sites and extra 10 variants of uncertain significance. A total of five sites were repeated in more than one unrelated patient. A total of 11 sites were associated with hereditary breast and ovarian cancer syndrome, two of which were confirmed by family pedigrees. Compared with BRCA- patients, patients with BRCA1 mutation tended to be triple-negative BC (P<0.001), whereas patients with BRCA2 mutation were more likely to be hormone receptor positive BC (P=0.02). The present study provides a general BRCA mutation profile in the Chinese population. The prevalence of BRCA mutation in BC patients with high hereditary risk is lower compared with Western populations. Chinese mutation type is different with Western people, without obvious founder mutation.

SUBMITTER: Wei H

PROVIDER: S-EPMC5958635 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.

Wei Hongyi H Wang Minghao M Ou Jianghua J Jiang Weihua W Tian Fuguo F Sheng Yuan Y Li Hengyu H Xu Hong H Zhang Ruishan R Guan Aihua A Wang Changqing C Jiang Hongchuan H Ren Yu Y He Jianjun J Liu Jian J Huang Weiwei W Liao Ning N Cai Xiangjun X Ming Jia J Ling Rui R Xu Yan Y Hu Chunyan C Zhang Jianguo J Guo Baoliang B Ouyang Lizhi L Shuai Ping P Liu Zhenzhen Z Zhong Ling L Jing Ruilin R Zeng Zhen Z Zhang Meng M Zhang Ting T Xuan Zhaoling Z Tan Xuanni X Liang Junbin J Pan Qinwen Q Chen Li L Zhang Fan F Fan Linjun L Zhang Yi Y Yang Xinhua X Li Jingbo J Chen Chongjian C Jiang Jun J

Oncology letters 20180418 6

Due to lack of systematic reviews, BRCA, DNA Repair Associated (BRCA) mutations in the Chinese population are not completely understood. The following study investigates the prevalence and type of BRCA mutations in Chinese patients with high hereditary risk of breast cancer (BC). Patients Drwere recruited from 14 cities between October 2015 and February 2016, and were selected based on family and personal medical history. BRCA mutations were analyzed by collecting blood samp ...[more]

PMID: 29805665

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Project description:BackgroundBreast cancer (BC) is the leading malignant tumor among women worldwide. Although attending regular BC screening effectively reduces cancer-related mortality, surveys testify that screening knowledge is critically low among women. We aimed to conduct a comparative cross-sectional survey to assess BC and BC screening-related knowledge in Hungary.MethodsWomen between 25 and 65 years of age without a previous history of malignant tumors were included with non-probability sampling in 2017. Respondents were recruited either from primary care (laywomen) or from the waiting rooms of mammography (screening attendees). A self-completion questionnaire was constructed with questions about BC (risk factors, signs and symptoms, curability, and mortality), BC screening (mammography and breast self-examination), and BC-related information sources to assess knowledge among laywomen and screening attendees. In addition to descriptive statistics, odds ratios with 95% confidence intervals were calculated in univariate analysis and logistic regression was used in multivariate analysis.ResultsAltogether, 480 women completed the questionnaire, of which 429 (227 laywomen and 202 screening attendees) were eligible for inclusion. Laywomen and screening attendees knew the recommended age at first mammography in 35.2% and 86.6%, the recommended frequency of screening in 33.9% and 12.9%, the recommended age at first breast-self examination in 38.8% and 51.2%, had sufficient knowledge of the risk factors of BC in 7.0% and 5.9%, and that of signs and symptoms of BC in 16.7% and 28.9%, respectively. A higher proportion of screening attendees correctly identified the recommended age of first BC screening correctly than that of laywomen (86.6% vs. 35.2%; p < 0.001). The most popular information sources were television among laywomen and general practitioners or specialists among screening attendees. In multivariate analysis, older age, higher education, and place of residency were significant predictors of the right answers.ConclusionsAlthough knowledge was insufficient in almost all fields of the questionnaire, the most prominent gap was observed concerning risk factors and signs and symptoms of BC both in laywomen and, unexpectedly, screening attendees. Most laywomen were lacking knowledge of screening protocol. These results urge breast health and BC knowledge interventions in Hungary.

Project description:BackgroundeHealth resources and interventions promise to promote favorable behavior change, self-efficacy, and knowledge acquisition, thereby improving health literacy. However, individuals with limited eHealth literacy may find it difficult to identify, understand, and benefit from eHealth use. It is necessary to identify the self-assessed eHealth literacy of those who use eHealth resources to classify their eHealth literacy levels and to determine the demographic characteristics associated with higher and lower eHealth literacy skills.ObjectiveThis study aimed to identify notable factors closely associated with limited eHealth literacy among Chinese male populations to provide some implications for clinical practice, health education, medical research, and public health policy making.MethodsWe hypothesized that participants' eHealth literacy status was associated with various demographic characteristics. Therefore, we elicited the following information in the questionnaire: age and education, self-assessed disease knowledge, 3 well-developed health literacy assessment tools (ie, the All Aspects of Health Literacy Scale, eHealth Literacy Scale, and General Health Numeracy Test), and the 6 Internal items on health beliefs and self-confidence in the Multidimensional Health Locus of Control Scales. Using randomized sampling, we recruited survey participants from Qilu Hospital of Shandong University, China. After validating the data collected through a web-based questionnaire survey via wenjuanxing, we coded all valid data according to predefined coding schemes of Likert scales with different point (score) ranges. We then calculated the total scores of the subsections of the scales or the entire scale. Finally, we used logistic regression modeling to associate the scores of the eHealth Literacy Scale with the scores of the All Aspects of Health Literacy Scale, the General Health Numeracy Test-6, and age and education to ascertain factors considerably associated with limited eHealth literacy among Chinese male populations.ResultsAll data from the 543 returned questionnaires were valid according to the validation criteria. By interpreting these descriptive statistics, we found that 4 factors were significantly correlated with participants' limited eHealth literacy: older age, lower education attainment, lower levels of all aspects of health literacy (functional, communicative, and critical), and weaker beliefs and self-confidence in internal drivers and strengths to stay healthy.ConclusionsBy applying logistic regression modeling, we ascertained 4 factors that were significantly correlated with limited eHealth literacy among Chinese male populations. These relevant factors identified can inform stakeholders engaging in clinical practice, health education, medical research, and health policy making.

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Multicenter cross-sectional screening of the BRCA gene for Chinese high hereditary risk breast cancer populations.

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Multicenter cross-sectional screening of the <i>BRCA</i> gene for Chinese high hereditary risk breast cancer populations.

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