The article reports on the findings by researchers from the University of Rochester School of Medicine that BRCA 1/2 genetic testing of women at high risk of carrying the BRCS 1 or 2 gene mutations, and treatment of those who test positive, seems to be cost effective compared with no ...
BRCA基因測試(BRCA gene test)是一種血液檢測,它的作用原理是對DNA進行分析,從而鑒別出相關基因的突變。根據個人或家族病史,有可能攜帶遺傳突變的女性可作BRCA基因測試。這項檢測並沒有包含於一般常規健康檢查當中,對於具有較高乳腺癌和卵巢癌風險的女性就更需要特別關注。 儘管大多數引發卵巢癌的DNA突變都不具有遺傳...
Alsop K, Fereday S, Meldrum C, et al. BRCA mutation frequency and patterns of treatment response in BRCA mutation-positivewomen with ovarian cancer: a report from the Australian Ovarian Cancer Study Group. J Clin Oncol. 2012;30(21):2654-2663. ...
A diagnostic genetic test for the physical mapping of germline rearrangements in the susceptibility breast cancer genes BRCA1 and BRCA2 The BRCA1 and BRCA2 genes are involved in breast and ovarian cancer susceptibility. About 2 to 4% of breast cancer patients with positive family history, n......
[Abstract]Germline mutations in BRCA genes (including BRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population based BRCA gene screening, particularly in high-risk individuals with a family history of cancer, can play a preventive role by reducing ...
[摘要]BRCA基因(包括BRCA1和BRCA2)的胚系突变是家族性乳腺癌、卵巢癌等肿瘤的核心风险因素。在人群中,特别是已有肿瘤家族史的高危人群中,BRCA基因检测可以发挥预防性管理作用,有助于降低此类遗传性疾病的死亡率和社会危害。近年来基于二代测序技术的BRCA胚系突变检测方案逐步落地,检测可及性不断增强。为了进一步规范相...
Short-term psychological impact of the BRCA1/2 test result in women with breast cancer according to their perceived probability of genetic predisposition t... Background: The effect of BRCA1/2 gene test result on anxiety, depression, cancer-related thought intrusion or avoidance and perceived cont...
Accurate estimation of carrier probabilities of cancer susceptibility gene mutations is an important part of pre-test genetic counselling. Many predictive models are available but their applicability in the Asian population is uncertain. We evaluated the performance of five BRCA mutation risk predictive mo...
(Fig.2D). While the number ofBRCA2variants to shift into or out of the no-call region is larger than forBRCA1, as a fraction of the variants in the gene’s function-only no-call region these values are comparable. The shift in classification categories forBRCA2variants reflected an ...
BRCA1gene has been extensively studied, more than 1600 mutations have been described and the majority of them are frameshifts mutations resulting in the deletion or non-functional protein. BRCA1is implicated in DNA double-strand break repair, transcriptional regulation, cell cycle control, apoptosis ...