参考资料 [1] Yukihide Momozawa, et al.,(2022). Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants. JAMA Oncol, DOI: 10.1001/jamaoncol.2022.0476. [2] Q&A: Genetic abnormalities and cancer risk. Retrieved Aug 15 ,20...
相较于正常人群，LS患者罹患结直肠癌（52%～82%vs.5.5%）、子宫内膜癌（16%～60%vs.2.7%）和其他包括胃癌和卵巢癌等癌症的风险明显升高。其中，LS约占所有结直肠癌患者的2%~4%，是最常见的遗传性结直肠癌综合征。图源：Dana-Farber Cancer Institute 国外的研究统计发现LS在人群中的发病率高达1/279，表明该...
其中,LS约占所有结直肠癌患者的2%~4%,是最常见的遗传性结直肠癌综合征。 图源:Dana-Farber Cancer Institute 国外的研究统计发现LS在人群中的发病率高达1/279,表明该疾病是一种常见的遗传性肿瘤易感综合征[3],但它远未得到与遗传性乳腺癌...
cancer riskBRCA mutationsBRCA genesGermline mutations in the tumor suppressor genes BRCA1 and BRCA2 predispose to familial breast and/or ovarian cancer. The lifetime risk of members of families with genetic predisposition depends on the mutations of susceptibility genes. BRCA1 mutations seem to ...
BRCA1 and BRCA2 pathogenic variants (PVs) are associated with prostate cancer (PCa) risk, but a wide range of relative risks (RRs) has been reported. We systematically searched PubMed, Embase, MEDLINE and Cochrane Library in June 2021 for studies that es
The impact of this operation on breast cancer risk is uncertain; thus, we performed a systematic review and meta-analysis to determine it. We found that this operation was not linked with a reduced risk of developing breast cancer when considering both BRCA1 and BRCA2 carriers together but ...
[3]Oh M, Alkhushaym N, Fallatah S, et al. The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis. Prostate. 2019;79(8):880-895. doi:10.1002/pros.23795 [4]Hu C, Hart SN, Polley EC, et al. Association Between Inherited Ge...
[3]Oh M, Alkhushaym N, Fallatah S, et al. The association of BRCA1 and BRCA2 mutations with prostate cancer risk, frequency, and mortality: A meta-analysis. Prostate. 2019;79(8):880-895. doi:10.1002/pros.23795 [4]Hu C, Hart SN, Polley EC, et al. Association Between Inherited Ge...
1.Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women. JAMA,doi:10.1001/jama.2019.8430 2. New Guidelines Expand BRCA Screening Guidelines. 3.USPSTF Formalizes Slightly Expanded BRCA Screening Recommendations. ...
BRCA1 and BRCA2 mutations increase breast and ovarian cancer risks substantially enough to warrant risk reduction surgery, despite variable risk estimates. Underlying this variability are methodological issues, and also complex genetic and nongenetic effects. Although many modifying factors are unidentified,...