
Journal of International Obstetrics and Gynecology ›› 2023, Vol. 50 ›› Issue (3): 318-321.doi: 10.12280/gjfckx.20220640
• Research on Gynecological Malignancies: Case Report • Previous Articles Next Articles
YANG Ming, CHEN Ming-zhu, TIAN Shu-yi, LIU Xiao-yan, ZHANG Li-hui(
)
Received:2022-08-09
Published:2023-06-15
Online:2023-06-27
Contact:
ZHANG Li-hui, E-mail: YANG Ming, CHEN Ming-zhu, TIAN Shu-yi, LIU Xiao-yan, ZHANG Li-hui. Early Endometrioid Carcinoma with CTNNB1 Mutation: A Case Report and Literature Review[J]. Journal of International Obstetrics and Gynecology, 2023, 50(3): 318-321.
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| 基因变异 | 染色体位置 | 突变丰度/ 拷贝数 | 变异分级 | 蛋白质功能影响 | 功能预测 | 数据库编号 (COSMIC) | |
|---|---|---|---|---|---|---|---|
| SIFT | Polyphen2 | ||||||
| CTNNB1 NM_001904.3 exon3 p.G34E c.101G>A | chr3:41266104 | 31.66% | Ⅱ类 | 预测功能获得 (PMID:18519687) | D | D | COSV62688267; OCCURENCE=130 |
| PIK3CA NM_006218.3 exon10 p.E545K c.1633G>A | chr3:178936091 | 30.57% | Ⅱ类 | 功能获得 (PMID:29533785,26627007) | D | D | COSV55873239;OCCURENCE=2798 |
| 基因变异 | 染色体位置 | 突变丰度/ 拷贝数 | 变异分级 | 蛋白质功能影响 | 功能预测 | 数据库编号 (COSMIC) | |
|---|---|---|---|---|---|---|---|
| SIFT | Polyphen2 | ||||||
| CTNNB1 NM_001904.3 exon3 p.G34E c.101G>A | chr3:41266104 | 31.66% | Ⅱ类 | 预测功能获得 (PMID:18519687) | D | D | COSV62688267; OCCURENCE=130 |
| PIK3CA NM_006218.3 exon10 p.E545K c.1633G>A | chr3:178936091 | 30.57% | Ⅱ类 | 功能获得 (PMID:29533785,26627007) | D | D | COSV55873239;OCCURENCE=2798 |
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