三阴性乳腺癌(triple-negative breast cancer,TNBC)的BRCA1/2基因突变率约为12%[37],激素受体(hormone receptor)阳性/人表皮生长因子受体2(human epidermal growth factor receptor2,HER-2)阴性的乳腺癌BRCA1/2基因突变率为4%[38]。...
Triple negative breast cancerBRCA gene mutationsTumor infiltrating lymphocytesPD-1 and PD-L1Tertiary lymphoid structuresThis study investigated the prevalence of TIL subpopulations, TLS, PD-1 and PD-Li in tumors from TNBC patients harboring wild-type or mutated BRCA1 or BRCA2 germline genes.Solinas...
[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 ...
乳腺癌易感基因(breast cancer susceptibility gene, BRCA)与乳腺癌有着密不可分的关系。 BRCA基因 的两个成员,即BRCA1和2,分别是在1990年和1994年被分离。 乳腺癌可以分为 遗传性乳腺癌 和 散发性乳腺癌 (sporadic breast cancer),散发性乳腺癌指的是没有发现明确的遗传基因改变(完整的癌变点)与乳腺癌家族史...
BRCA基因,即乳腺癌易感基因(Breast cancer susceptibility gene),包括BRCA1和BRCA2两种类型,是主要的抑癌基因,参与同源重组修复过程,在细胞周期调控和基因组完整性维持中起关键作用。 BRCA基因突变会带来哪些后果? 当该基因发生突变时,其修复功能可能会受到影响,约5%-10%的乳腺癌和15%-22%的卵巢癌是由BRCA1/2基因...
BRCA基因,即乳腺癌易感基因(Breast cancer susceptibility gene),包括BRCA1和BRCA2两种类型,分别位于我们的第17号和第13号染色体上。它们可以被比喻为我们体内的“哨兵”,防止健康细胞走向癌变的道路。通常,这些基因“哨兵”能够忠诚地执行它们的职责。然而,当BRCA基因发生突变时,它们的功能就会受到影响,从而无法有效维...
The common germline mutations of the BRCA1 gene are 5382insC, 185delAG, 3819del5, and 4153delA and of BRCA2 are 4075delGT and 580del4 [1]. In the western population, about 5% of the breast cancer patients may carry heritable cancer susceptibility gene mutations, with BRCA1 being the ...
Faculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust, Southampton SO16 6YD, UK; 7Breakthrough Breast Cancer Research Unit, King's College, London SE1 9RT, UK BACKGROUND: Triple-negative (TN) tumours are the predominant breast cancer subtype in BRCA1 mutation...
BRCAness and Prognosis in Triple-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy BRCAness is defined as the set of traits in which BRCA1 dysfunction, arising from gene mutation, methylation or deletion, results in DNA repair deficiency... H Tanino,Y Kosaka,N Sengoku,... -...
Despite objective responses to poly(ADP-ribose) polymerase (PARP) inhibition and improvements in progression-free survival (PFS) compared to standard chemotherapy in patients with BRCA-associated triple-negative breast cancer (TNBC), benefits are transitory. Using high-dimensional single-cell profiling of...