FANCA c.356C>G ;(p.S119C)

Variant ID: 16-89877407-G-C

NM_000135.2(FANCA):c.356C>G;(p.S119C)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Somatic and germline aberrations in homologous recombination repair genes in Chinese prostate cancer patients.

Frontiers In Oncology
Liu, Yixiao Y; Jin, Bo B; Shen, Cheng C; Gao, Xianshu X; Qi, Xin X; Ma, Mingwei M; Li, Hongzhen H; Hao, Han H; Tang, Qi Q; Yang, Kaiwei K; Mi, Yue Y; Guan, Jie J; Feng, Xuero X; He, Zhisong Z; Li, Haixia H; Yu, Wei W
Publication Date: 2023

Variant appearance in text: FANCA: 356C>G; S119C
PubMed Link: 37064136
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
  • Table_1.xlsx, sheet 2
View BVdb publication page



RAD54B mutations enhance the sensitivity of ovarian cancer cells to poly(ADP-ribose) polymerase (PARP) inhibitors.

The Journal Of Biological Chemistry
Liu, Peng P; Lin, Chunxiu C; Liu, Lanlan L; Lu, Ziwen Z; Tu, Zhigang Z; Liu, Hanqing H
Publication Date: 2022-09

Variant appearance in text: FANCA: 356C>G; Ser119Cys
PubMed Link: 35952757
Variant Present in the following documents:
  • mmc3.xls, sheet 10
View BVdb publication page



Case Report: Niraparib-Related Pulmonary Embolism During the Treatment of BRCA Mutant Advanced Ovarian Cancer.

Frontiers In Oncology
Wei, Qiang Q; Chen, Dong-Sheng DS; Liu, Yuan-Hua YH
Publication Date: 2022

Variant appearance in text: FANCA: 356C>G; S119C
PubMed Link: 35359396
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Frontiers In Oncology
Yao, Qianlan Q; Liu, Yanhui Y; Zhang, Lihua L; Dong, Lin L; Bao, Longlong L; Bai, Qianming Q; Cui, Qian Q; Xu, Jie J; Li, Min M; Liu, Jing J; Chuai, Shannon S; Ying, Jianming J; Zhang, Zhihong Z; Zhou, Xiaoyan X
Publication Date: 2022

Variant appearance in text: FANCA: 356C>G; Ser119Cys
PubMed Link: 35186721
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 3
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: FANCA: S119C
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging
Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N
Publication Date: 2020-02-24

Variant appearance in text: FANCA: 356C>G; Ser119Cys; rs751309143
PubMed Link: 32091409
Variant Present in the following documents:
  • aging-12-102783-s001..xlsx, sheet 1
View BVdb publication page