testing in the population, including screening scenarios, technical approaches, quality control, result interpretation and reporting, as well as genetic counseling. Through multidisciplinary discussions and Delphi questionnaire survey "expert consensus on population-based BRCA germline mutation screening in China...
检索时限起始于1990年1月,截至2023年8月,英文文献检索词主要包括BRCA1/2、hereditary breast cancer、hereditary ovarian cancer、germline mutation、screening test、population screening、BRCA screening、cancer risk assessment、cancer susceptibility、genome sequencing、variant classification、genetic counseling、quality...
[Abstract]Germline mutations inBRCAgenes (includingBRCA1/2) are the major risk factors for hereditary tumors including breast and ovarian cancer. Population basedBRCAgene screening, particularly in high-risk individuals with a family history...
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. ...
Women who have a positive test for a BRCA gene mutation can choose from a number of options; primaryprevention strategies include prophylactic mastectomy and/or prophylactic oophorectomy, or chemoprevention with a drug such as tamoxifen that inhibits the development of breast cancer. Secondary ...
ER-positive and BRCA2-mutated breast cancer: a literature review Pu-Chun Li Yi-Fan Zhu Bei Li European Journal of Medical Research(2024) Neoantigen immunogenicity landscapes and evolution of tumor ecosystems during immunotherapy with nivolumab
Setting the positive test threshold The performance measures using sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) for each predictive model are shown in Table 4, with the positive test threshold for carrying a BRCA1 or BRCA2 mutation set at 10% or ...
although there are limitations due to the small sample size, allowing us to hypothesize that a major prevalence of this germline BRCA2 PV on the Emilia Romagna eastern coast could be a population-specific genetic feature of positive carriers and could have helpful therapeutic implications for patient...
Fifty BRCA2-mutation–positive families were ascertained through an ovarian cancer index case, 148 were ascertained through a female breast cancer index case, and 20 were ascertained through a male breast cancer index case. Of the female index case patients, 46 received a diagnosis at <35 years...
response to single-agent olaparib in 14 of 16 patients who were biomarker-positive, defined as having a homozygous deletion or biallelic deleterious mutation of a DNA repair gene (e.g.,BRCA2, ATM, CHEK2). Among biomarker-negative patients, only 2 of 33 (6%) had a response to olaparib....