BhaskaranSP, Chandratre K, Gupta H, et al. Germline variation in BRCA1/2 is highlyethnic-specific: Evidence from over 30, 000 Chinese hereditary breast andovarian cancer patients[J]. Int J Cancer, 2019, 145(4):962-973. doi:10.1002/ijc.32...
BRCA1和BRCA2是乳腺癌易感基因(breast cancer susceptibility gene,BRCA),是重要的抑癌基因,其编码产物参与DNA损伤同源性重组修复(homologous recombination repair)。同源重组缺陷(homologous recombination deficiency,HRD)可以由BRCA1/2基因突变导致,使得基因组不稳定...
[1]Armstrong K, Weiner J, Weber B, Asch DA. Early adoption of BRCA1/2 testing: who and why. Genet Med. 2003;5(2):92-98. doi:10.1097/01.GIM.0000056829.76915.2A [2]Kuchenbaecker KB, Hopper JL, Barnes DR, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1...
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...
Definition BRCA1 and BRCA2 are recently identified genes, germline mutations in which confer predisposition to breast, ovarian and other cancers with a high penetrance. The function of their large, nuclear-localised protein products remains uncertain, but they have been implicated in the cellular ...
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 hereditary breast and ovarian cancer susceptibility genes, BRCA1 and BRCA2, have established roles in genome integrity maintenance and in the control of homologous recombination. Recent work has produced valuable insights into the mechanisms of action of the gene products. This review summarizes so...
[5]Breast Cancer Linkage Consortium. Cancer risks in BRCA2 mutation carriers. J Natl Cancer Inst. 1999;91(15):1310-1316. doi:10.1093/jnci/91.15.1310 [6]Johannsson O, Loman N, Möller T, Kristoffersson U, Borg A, Olsson H. Incidence of malignant tumours in relatives of BRCA1 and BRCA...
The discovery of the first gene associated with hereditary breast cancer, BRCA1, was anticipated to greatly increase our understanding of both hereditary and sporadic forms of breast cancer, and to lead to therapeutic and preventive breakthroughs. Much h
Deng M,Chen HH, Zhu X, et al. Prevalence and clinical outcomes of germline mutationsin BRCA1/2 and PALB2 genes in 2, 769 unselected breast cancer patients inChina[J]. Int J Cancer, 2019, 145(6):1517-1528. doi: 10.1002/ijc.32184 ...