Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.
Human Molecular Genetics
Castaneda-Garcia, Carolina C; Iyer, Vivek V; Nsengimana, Jérémie J; Trower, Adam A; Droop, Alastair A; Brown, Kevin M KM; Choi, Jiyeon J; Zhang, Tongwu T; Harland, Mark M; Newton-Bishop, Julia A JA; Bishop, D Timothy DT; Adams, David J DJ; Iles, Mark M MM; Robles-Espinoza, Carla Daniela CD
Publication Date: 2022-08-25
Variant appearance in text: CDKN2A: 373G>C; Asp125His; rs146179135
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Elife
Kimura, Hirokazu H; Paranal, Raymond M RM; Nanda, Neha N; Wood, Laura D LD; Eshleman, James R JR; Hruban, Ralph H RH; Goggins, Michael G MG; Klein, Alison P AP; Roberts, Nicholas Jason NJ
Publication Date: 2022-01-10
Variant appearance in text: CDKN2A: 373G>C; Asp125His
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Elife
Kimura, Hirokazu H; Paranal, Raymond M RM; Nanda, Neha N; Wood, Laura D LD; Eshleman, James R JR; Hruban, Ralph H RH; Goggins, Michael G MG; Klein, Alison P AP; , ; Roberts, Nicholas J NJ
Publication Date: 2022-01-10
Variant appearance in text: CDKN2A: 373G>C; Asp125His
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
European Journal Of Human Genetics : Ejhg
Fokkema, Ivo F A C IFAC; Kroon, Mark M; López Hernández, Julia A JA; Asscheman, Daan D; Lugtenburg, Ivar I; Hoogenboom, Jerry J; den Dunnen, Johan T JT
Publication Date: 2021-12
Variant appearance in text: CDKN2A: 373G>C; Asp125His
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma.
Jama Oncology
Mirabello, Lisa L; Zhu, Bin B; Koster, Roelof R; Karlins, Eric E; Dean, Michael M; Yeager, Meredith M; Gianferante, Matthew M; Spector, Logan G LG; Morton, Lindsay M LM; Karyadi, Danielle D; Robison, Leslie L LL; Armstrong, Gregory T GT; Bhatia, Smita S; Song, Lei L; Pankratz, Nathan N; Pinheiro, Maisa M; Gastier-Foster, Julie M JM; Gorlick, Richard R; de Toledo, Silvia Regina Caminada SRC; Petrilli, Antonio S AS; Patino-Garcia, Ana A; Lecanda, Fernando F; Gutierrez-Jimeno, Miriam M; Serra, Massimo M; Hattinger, Claudia C; Picci, Piero P; Scotlandi, Katia K; Flanagan, Adrienne M AM; Tirabosco, Roberto R; Amary, Maria Fernanda MF; Kurucu, Nilgün N; Ilhan, Inci Ergurhan IE; Ballinger, Mandy L ML; Thomas, David M DM; Barkauskas, Donald A DA; Mejia-Baltodano, Gerardo G; Valverde, Patricia P; Hicks, Belynda D BD; Zhu, Bin B; Wang, Mingyi M; Hutchinson, Amy A AA; Tucker, Margaret M; Sampson, Joshua J; Landi, Maria T MT; Freedman, Neal D ND; Gapstur, Susan S; Carter, Brian B; Hoover, Robert N RN; Chanock, Stephen J SJ; Savage, Sharon A SA
Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.
Breast Cancer Research : Bcr
Li, Na N; Rowley, Simone M SM; Thompson, Ella R ER; McInerny, Simone S; Devereux, Lisa L; Amarasinghe, Kaushalya C KC; Zethoven, Magnus M; Lupat, Richard R; Goode, David D; Li, Jason J; Trainer, Alison H AH; Gorringe, Kylie L KL; James, Paul A PA; Campbell, Ian G IG
Publication Date: 2018-01-09
Variant appearance in text: CDKN2A: 373G>C; Asp125His; rs146179135
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09
Variant appearance in text: CDKN2A: 373G>C; Asp125His; rs146179135
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.
Neurobiology Of Aging
Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,
Building a Robust Tumor Profiling Program: Synergy between Next-Generation Sequencing and Targeted Single-Gene Testing.
Plos One
Hiemenz, Matthew C MC; Kadauke, Stephan S; Lieberman, David B DB; Roth, David B DB; Zhao, Jianhua J; Watt, Christopher D CD; Daber, Robert D RD; Morrissette, Jennifer J D JJ
Inherited coding variants at the CDKN2A locus influence susceptibility to acute lymphoblastic leukaemia in children.
Nature Communications
Xu, Heng H; Zhang, Hui H; Yang, Wenjian W; Yadav, Rachita R; Morrison, Alanna C AC; Qian, Maoxiang M; Devidas, Meenakshi M; Liu, Yu Y; Perez-Andreu, Virginia V; Zhao, Xujie X; Gastier-Foster, Julie M JM; Lupo, Philip J PJ; Neale, Geoff G; Raetz, Elizabeth E; Larsen, Eric E; Bowman, W Paul WP; Carroll, William L WL; Winick, Naomi N; Williams, Richard R; Hansen, Torben T; Holm, Jens-Christian JC; Mardis, Elaine E; Fulton, Robert R; Pui, Ching-Hon CH; Zhang, Jinghui J; Mullighan, Charles G CG; Evans, William E WE; Hunger, Stephen P SP; Gupta, Ramneek R; Schmiegelow, Kjeld K; Loh, Mignon L ML; Relling, Mary V MV; Yang, Jun J JJ
Publication Date: 2015-06-24
Variant appearance in text: p16INK4a: 373G>C; rs146179135
Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.
Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E