检测结果为阳性,代表BRCA1/2 基因发生了突变,对于以下三种情况有指导意义。 1.携带BRCA1/2基因突变的健康女性患乳腺癌和卵巢癌的风险是普通人群十倍以上,该人群定期筛查,有助于早期发现。 2.BRCA1/2基因突变是保乳治疗的相对禁忌症,突变携带者具有较高...
BRCA1/BRCA2 基因检测 新基因格医学 重大疾病检验 BRCA(BReast CAncer susceptibility gene;乳腺癌易感基因)是重要的抑癌基因与肿瘤易感基因,包括BRCA1及BRCA2。BRCA基因突变会导致基因组不稳定性显著增加,从而显著提高女性罹患乳腺癌、卵巢癌以及其他癌症(如:胰腺癌、子宫内膜癌、腹膜癌及宫颈癌等[1-4])的风险。
BRCA1 and BRCA2 gene: role in hereditary breast and ovarian cancer in Italy. Int J Cancer 1999;83:5-9.Santarosa M, Dolcetti R, Magri MD, Crivellari D, Tibiletti MG, Gallo A, et al. BRCA1 and BRCA2 gene: role in hereditary breast and ovarian cancer in Italy. Int J Cancer...
Such alterations are far less common in the BRCA2 gene. To determine the impact of BRCA1 and BRCA2 LGRs in South Africa, 52 hereditary breast and/or ovarian South African families (36 were Afrikaners) were screened for BRCA1 and BRCA2 LGRs using multiplex ligation-dependent probe ...
Mutations in the BRCA1 and BRCA2 genes are found in most families with cases of both breast and ovarian cancer or with many cases of early-onset breast cancer. However, in an outbred population, the prevalence of BRCA1 and BRCA2 mutations in patients with breast cancer who were unselected ...
The discovery of the BRCA1 gene had an immediate and profound impact on medical practice by providing a means to assess and manage breast and ovarian cancer risk in individuals and their families carrying a mutation in the gene. The patenting of BRCA1 and then BRCA2 (another cancer-...
doi:info:doi/10.1111/j.1445-2197.2007.04114_19.xFirgaira, F.ANZ Journal of Surgery
导读:BRCA1/2基因是抑制肿瘤发生的抑癌基因。当BRCA1/2发生基因突变后,其抑制肿瘤发生的功能受到影响,导致基因功能缺陷,从而诱发一系列的癌症,其中最主要的就是遗传性乳腺癌及卵巢癌。已发现的BRCA1基因变异有数千种,但许多都被列为“意义未明的变异”,给患癌风险评估带来了巨大挑战。近日,美国华盛顿大学的研究人员...
Germline mutations of high penetrant BRCA1 and BRCA2 genes have been associated to hereditary breast cancer risk, while polymorphic variants of the two gen... S Tommasi,B Pilato,R Pinto,... - 《Mutation Research》 被引量: 69发表: 2008年 The PALB2 Gene Is a Strong Candidate for Clinical...
The CHEK2*1100delC variant acts as a breast cancer risk modifier in non-BRCA1/BRCA2 multiple-case families. The frame-shifting mutation 1100delC in the cell-cycle-checkpoint kinase 2 gene (CHEK2) has been reported to be associated with familial breast cancer in f... RA Oldenburg,K ...