Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: BRCA1: 5521del; Ser1841fs
Genomic Profiling Comparison of Germline BRCA and Non-BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non-BRCA Carriers in Patients With Triple-Negative Breast Cancer.
Frontiers In Oncology
Huang, Xin X; Shao, Di D; Wu, Huanwen H; Zhu, Changbin C; Guo, Dan D; Zhou, Yidong Y; Chen, Chang C; Lin, Yan Y; Lu, Tao T; Zhao, Bin B; Wang, Changjun C; Sun, Qiang Q
Publication Date: 2020
Variant appearance in text: BRCA1: 5521delA; S1841Vfs
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Allele-specific expression mediates primary resistance to poly (ADP-ribose) polymerase inhibitor therapy in a case of BRCA1/2 double-germline mutant gastric cancer.
The Journal Of International Medical Research
Wen, Lu L; Li, Xiuxiu X; Shi, Junping J; Zhang, Shuo S; Wang, Rui R; Yao, Ming M; Guo, Jun J
Publication Date: 2020-03
Variant appearance in text: BRCA1: 5521delA; S1841Vfs*2; rs80357721