Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test.
Cancers
Kim, Yoo-Na YN; Kim, Min Kyu MK; Lee, Young Joo YJ; Lee, Youngeun Y; Sohn, Ji Yeon JY; Lee, Jung-Yun JY; Choi, Min Chul MC; Kim, Migang M; Jung, Sang Geun SG; Joo, Won Duk WD; Lee, Chan C
Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Drost, Mark M; Tiersma, Yvonne Y; Glubb, Dylan D; Kathe, Scott S; van Hees, Sandrine S; Calléja, Fabienne F; Zonneveld, José B M JBM; Boucher, Kenneth M KM; Ramlal, Renuka P E RPE; Thompson, Bryony A BA; Rasmussen, Lene Juel LJ; Greenblatt, Marc S MS; Lee, Andrea A; Spurdle, Amanda B AB; Tavtigian, Sean V SV; de Wind, Niels N
Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G
Publication Date: 2020-04
Variant appearance in text: MSH6: 1295T>C; Phe432Ser
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
In Silico Systems Biology Analysis of Variants of Uncertain Significance in Lynch Syndrome Supports the Prioritization of Functional Molecular Validation.
Cancer Prevention Research (Philadelphia, Pa.)
Borras, Ester E; Chang, Kyle K; Pande, Mala M; Cuddy, Amanda A; Bosch, Jennifer L JL; Bannon, Sarah A SA; Mork, Maureen E ME; Rodriguez-Bigas, Miguel A MA; Taggart, Melissa W MW; Lynch, Patrick M PM; You, Y Nancy YN; Vilar, Eduardo E
Consequences of universal MSI/IHC in screening ENDOMETRIAL cancer patients for Lynch syndrome.
Gynecologic Oncology
Batte, Brittany A L BA; Bruegl, Amanda S AS; Daniels, Molly S MS; Ring, Kari L KL; Dempsey, Katherine M KM; Djordjevic, Bojana B; Luthra, Rajyalakshmi R; Fellman, Bryan M BM; Lu, Karen H KH; Broaddus, Russell R RR