Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Patients' Medical and Psychosocial Experiences After Detection of a CDH1 Variant With Multigene Panel Testing.
Jco Precision Oncology
Hamilton, Jada G JG; Long, Jessica M JM; Brandt, Amanda C AC; Brower, Jamie J; Symecko, Heather H; Salo-Mullen, Erin E EE; Christian, Stephanie N SN; Harstad, Tricia T; Couch, Fergus J FJ; Garber, Judy E JE; Offit, Kenneth K; Robson, Mark E ME; Domchek, Susan M SM
Publication Date: 2019
Variant appearance in text: CDH1: 1118C>T; Pro373Leu
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
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
European Journal Of Human Genetics : Ejhg
Kievit, Anneke A; Tessadori, Federico F; Douben, Hannie H; Jordens, Ingrid I; Maurice, Madelon M; Hoogeboom, Jeannette J; Hennekam, Raoul R; Nampoothiri, Sheela S; Kayserili, Hülya H; Castori, Marco M; Whiteford, Margo M; Motter, Connie C; Melver, Catherine C; Cunningham, Michael M; Hing, Anne A; Kokitsu-Nakata, Nancy M NM; Vendramini-Pittoli, Siulan S; Richieri-Costa, Antonio A; Baas, Annette F AF; Breugem, Corstiaan C CC; Duran, Karen K; Massink, Maarten M; Derksen, Patrick W B PWB; van IJcken, Wilfred F J WFJ; van Unen, Leontine L; Santos-Simarro, Fernando F; Lapunzina, Pablo P; Gil-da Silva Lopes, Vera L VL; Lustosa-Mendes, Elaine E; Krall, Max M; Slavotinek, Anne A; Martinez-Glez, Victor V; Bakkers, Jeroen J; van Gassen, Koen L I KLI; de Klein, Annelies A; van den Boogaard, Marie-José H MH; van Haaften, Gijs G
Predicting the Functional Impact of CDH1 Missense Mutations in Hereditary Diffuse Gastric Cancer.
International Journal Of Molecular Sciences
Melo, Soraia S; Figueiredo, Joana J; Fernandes, Maria Sofia MS; Gonçalves, Margarida M; Morais-de-Sá, Eurico E; Sanches, João Miguel JM; Seruca, Raquel R
Deleterious Germline Mutations in Patients With Apparently Sporadic Pancreatic Adenocarcinoma.
Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Shindo, Koji K; Yu, Jun J; Suenaga, Masaya M; Fesharakizadeh, Shahriar S; Cho, Christy C; Macgregor-Das, Anne A; Siddiqui, Abdulrehman A; Witmer, P Dane PD; Tamura, Koji K; Song, Tae Jun TJ; Navarro Almario, Jose Alejandro JA; Brant, Aaron A; Borges, Michael M; Ford, Madeline M; Barkley, Thomas T; He, Jin J; Weiss, Matthew J MJ; Wolfgang, Christopher L CL; Roberts, Nicholas J NJ; Hruban, Ralph H RH; Klein, Alison P AP; Goggins, Michael M
The contribution of pathogenic variants in breast cancer susceptibility genes to familial breast cancer risk.
Npj Breast Cancer
Slavin, Thomas P TP; Maxwell, Kara N KN; Lilyquist, Jenna J; Vijai, Joseph J; Neuhausen, Susan L SL; Hart, Steven N SN; Ravichandran, Vignesh V; Thomas, Tinu T; Maria, Ann A; Villano, Danylo D; Schrader, Kasmintan A KA; Moore, Raymond R; Hu, Chunling C; Wubbenhorst, Bradley B; Wenz, Brandon M BM; D'Andrea, Kurt K; Robson, Mark E ME; Peterlongo, Paolo P; Bonanni, Bernardo B; Ford, James M JM; Garber, Judy E JE; Domchek, Susan M SM; Szabo, Csilla C; Offit, Kenneth K; Nathanson, Katherine L KL; Weitzel, Jeffrey N JN; Couch, Fergus J FJ
Publication Date: 2017
Variant appearance in text: CDH1: 1118C>T; Pro373Leu
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Nykamp, Keith K; Anderson, Michael M; Powers, Martin M; Garcia, John J; Herrera, Blanca B; Ho, Yuan-Yuan YY; Kobayashi, Yuya Y; Patil, Nila N; Thusberg, Janita J; Westbrook, Marjorie M; , ; Topper, Scott S
Mismatch repair deficiency may be common in ductal adenocarcinoma of the prostate.
Oncotarget
Schweizer, Michael T MT; Cheng, Heather H HH; Tretiakova, Maria S MS; Vakar-Lopez, Funda F; Klemfuss, Nola N; Konnick, Eric Q EQ; Mostaghel, Elahe A EA; Nelson, Peter S PS; Yu, Evan Y EY; Montgomery, Bruce B; True, Lawrence D LD; Pritchard, Colin C CC
Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research.
Journal Of Medical Genetics
Fitzgerald, Rebecca C RC; Hardwick, Richard R; Huntsman, David D; Carneiro, Fatima F; Guilford, Parry P; Blair, Vanessa V; Chung, Daniel C DC; Norton, Jeff J; Ragunath, Krishnadath K; Van Krieken, J Han JH; Dwerryhouse, Sarah S; Caldas, Carlos C; ,