首先需要明确的是这样一个事实:在家族性聚集的乳癌/卵巢癌患者中,患病人数越多、患者越年轻、乳癌和卵巢癌混合患病通常提示这个家族携带BRCA基因突变的可能性越高,然而,大多数家族性聚集的乳癌患者并非是由于BRCA1/2突变基因携带引起的。生殖系基因检测(germline genetic t...
This article will examine current knowledge about BRCA1 and BRCA2 genetic testing for ovarian cancer and follow the journey taken by women who are considering such testing. Genetic counselling and genetic testing will be critically evaluated and the implications for clinical practice, the individual ...
ARTICLE Timing of BRCA1/BRCA2 genetic testing in women with ovarian cancer Molly S. Daniels, MS1, Diana L. Urbauer, MS2, Jennifer L. Stanley, BS1, Kristin G. Johnson, BSN3, and Karen H. Lu, MD1 Purpose: To determine when, in reference to the course of their treatment, women with...
1. Liming Su, et al. Contralateral breast cancer risk in BRCA1 and BRCA2 mutation carriers in a large cohort of unselected Chinese breast cancer patients. Int. J. Cancer, 2020, 146: 3335-3342. 2. Yadav S,Hu C,Hart SN,et al.Evalu...
BRCA1和BRCA2基因检测通常是通过血液或唾液样本获取DNA细胞来进行的。运用PCR技术，包括但不限于阴性...
Purpose of Genetic Testing 作为个体,我们每个人都是独一无二的,但在基因层面,我们其实“相差无几”。全世界任何两个人在一起进行比较,他们基因组的差异也仅有0.5%左右。不要诧异,人类和黑猩猩基因组的相似度约为96%,和阿比西尼亚家猫的的相似度约为90%,和老鼠的相似度约为85%。如果我告诉你,人类和香蕉的基...
Methods: Single institution retrospective chart review of patients with ovarian cancer who underwentBRCA1/BRCA2genetic testing. Results: Thirty-three percent of our sample (n= 100) were seen for genetic counseling after ovarian cancer recurrence. In four cases, genetic test results were disclosed to...
1 However, many women with mutations in these genes are identified as carriers only after their first cancer diagnosis because their family history of cancer was not sufficient to suggest genetic testing.2 To identify a woman as a carrier only after she develops cancer is a failure of cancer ...
Journal of Genetic Counseling, 22 (3), 323–335.Lafreniere D, Bouchard K, Godard B, Simard J, Dorval M. Family communication following BRCA1/2 genetic testing: A close look at the process. J Genet Couns. 2013; 22:323-335. [PubMed: 23242930]...
Katapodi MC, Northouse LL, Milliron KJ, Liu G, Merajver SD, et al. (2012) Individual and family characteristics associated with BRCA1/2 genetic testing in high-risk families. Psycho-oncology 22: 1336-1343.Katapodi, M. C., Northouse, L. L., Milliron, K. J., Liu, G., & Mer...