Early-onset breast cancer in a Lebanese family with Lynch syndrome due to MSH2 gene mutation.
Early-onset breast cancer in a Lebanese family with Lynch syndrome due to MSH2 gene mutation.
复制标题
DOI：
10.1186/1897-4287-7-10
复制
发表时间：
2009-05-28
影响因子：
1.7
通讯作者：
Hajjar N
中科院分区：
文献类型：
--
作者：
Akoum R;Ghaoui A;Brihi E;Ghabash M;Hajjar N
乳腺癌作为Lynch综合征疾病谱的一部分的整合仍然存在争议。1996年开始对一个黎巴嫩家系进行定期随访，该家系因MSH2基因内含子3剪接供体位点的点突变而患Lynch综合征。一名26岁的孕妇，突变携带者，发展为侵袭性乳腺癌，对标准化疗方案无效。肿瘤的微卫星分析显示标志物BAT 25和BAT 26的不稳定模式。免疫组织化学染色为阴性的MSH2和MSH6和正常的MLH1和PMS6酶。分离的突变与疾病表型和这些结果表明，MSH2失活可能参与加速乳腺癌的发生，并可能被认为是在癌症筛查计划。
There are still controversies about the integration of breast cancer as a part of the disease spectrum in Lynch syndrome. A regular follow-up of a Lebanese pedigree with Lynch syndrome due to a point mutation of MSH2 gene at the splice donor site of intron 3 started in 1996. A 26-year-old pregnant woman, mutation carrier, developed an aggressive breast cancer, refractory to standard chemotherapy regimens. The microsatellite analysis of the tumor showed an unstable pattern for markers BAT25 and BAT26. The immunohistochemical staining was negative for MSH2 and MSH6 and normal for MLH1 and PMS6 enzymes. The segregation of the mutation with the disease phenotype and these results suggest that MSH2 inactivation may be involved in the accelerated breast carcinogenesis and might be considered in the cancer screening program.
登录
查看更多内容
影响因子：
9.8
作者：
Scott, RJ;McPhillips, M;Kirk, J
通讯作者：
Kirk, J
DOI：
10.1111/j.1525-1438.2006.00621.x
发表时间：
2006-07-01
影响因子：
4.8
作者：
Akoum, R.;Ghaoui, A.;Abou Atme, J.
通讯作者：
Abou Atme, J.
影响因子：
6.4
作者：
Aarnio, M;Mecklin, JP;Jarvinen, HJ
通讯作者：
Jarvinen, HJ
影响因子：
3.3
作者：
Westenend, PJ;Schütte, R;Dinjens, WNM
通讯作者：
Dinjens, WNM
影响因子：
1.2
作者：
Khilko, Natalya;Bourne, Patricia;Tang, Ping
通讯作者：
Tang, Ping