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)与乳腺癌家族史的乳腺癌...
Among patients with BRCA1-associated cancers, 86 (52%) had mutations in the 5' half of the gene. Among patients with BRCA2-associated breast cancers, 40 (37%) had OCCR mutations. Although BRCA1-associated tumors were more likely to be ER/PR- than BRCA2-associated cancers (p < 0.0001)...
[8] Pierce LJ, Levin AM, Rebbeck TR, et al. Ten-year multi-institutional results of breast-conserving surgery and radiotherapy in BRCA1/2-associated stage Ⅰ/Ⅱ breast cancer[J]. J Clin Oncol, 2006, 24(16):243...
One hundred and sixty-four patients with BRCA1-associated breast cancer and 109 patients with BRCA2-associated breast cancer were identified. Among patients with BRCA1-associated cancers, 86 (52%) had mutations in the 5' half of the gene. Among patients with BRCA2-associated breast cancers, ...
12. P.D. Shah, S. Patil, M.N. Dickler, K. Offit, C.A. Hudis, M.E. Robson. Twenty-one-gene recurrence score assay in BRCA-associated versus sporadic breast cancers: differences based on germline mutation status. Cance...
12.P.D. Shah, S. Patil, M.N. Dickler, K. Offit, C.A. Hudis, M.E. Robson. Twenty-one-gene recurrence score assay in BRCA-associated versus sporadic breast cancers: differences based on germline mutation status. Cancer, 122 (8) (2016), pp. 1178-1184 ...
Ladanyi M, Hyman DM, Solit DB, Robson ME, Taylor BS, Offit K, Berger MF, Stadler ZK: Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019, 37(4):286-295. ...
Agalliu I, Karlins E, Kwon EM, Iwasaki LM, Diamond A, Ostrander EA, et al. Rare germline mutations in thegene are associated with early-onset prostate cancer. Br J Cancer. 2007;97:826–31. PubMed CentralGoogle Scholar Agalliu I, Gern R, Leanza S, Burk RD. Associations of high-gra...
The proteins encoded by the two major breast cancer susceptibility genes,BRCA1andBRCA2, work in a common pathway of genome protection. However, the two proteins work at different stages in the DNA damage response (DDR) and in DNA repair. BRCA1 is a pleiotropic DDR protein that functions in...
FANCA is the most frequently mutated gene, followed by FANCC and FANCG [1]. Patients with FA are at a significantly increased risk of cancers such as acute myeloid leukemia (AML), head and neck squamous cell carcinoma and others [2]. FANCD1 (BRCA2) and FANCN (PALB2) are also ...