New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Frontiers In Genetics
Djursby, Malene M; Madsen, Majbritt B MB; Frederiksen, Jane H JH; Berchtold, Lukas A LA; Therkildsen, Christina C; Willemoe, Gro L GL; Hasselby, Jane P JP; Wikman, Friedrik F; Okkels, Henrik H; Skytte, Anne-Bine AB; Nilbert, Mef M; Wadt, Karin K; Gerdes, Anne-Marie AM; van Overeem Hansen, Thomas T
Publication Date: 2020
Variant appearance in text: GALNT12: 907G>A; Asp303Asn
Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.
Familial Cancer
Heald, Brandie B; Hampel, Heather H; Church, James J; Dudley, Beth B; Hall, Michael J MJ; Mork, Maureen E ME; Singh, Aparajita A; Stoffel, Elena E; Stoll, Jessica J; You, Y Nancy YN; Yurgelun, Matthew B MB; Kupfer, Sonia S SS; ,
The structure of the colorectal cancer-associated enzyme GalNAc-T12 reveals how nonconserved residues dictate its function.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Fernandez, Amy J AJ; Daniel, Earnest James Paul EJP; Mahajan, Sai Pooja SP; Gray, Jeffrey J JJ; Gerken, Thomas A TA; Tabak, Lawrence A LA; Samara, Nadine L NL
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.
Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30
Variant appearance in text: GALNT12: D303N; rs145236923
Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.
Human Mutation
Evans, Daniel R DR; Venkitachalam, Srividya S; Revoredo, Leslie L; Dohey, Amanda T AT; Clarke, Erica E; Pennell, Julia J JJ; Powell, Amy E AE; Quinn, Erina E; Ravi, Lakshmeswari L; Gerken, Thomas A TA; Green, Jane S JS; Woods, Michael O MO; Guda, Kishore K
Publication Date: 2018-08
Variant appearance in text: GALNT12: 907G>A; Asp303Asn; rs145236923
Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.
Plos One
Lorca, Víctor V; Rueda, Daniel D; Martín-Morales, Lorena L; Poves, Carmen C; Fernández-Aceñero, María Jesús MJ; Ruiz-Ponte, Clara C; Llovet, Patricia P; Marrupe, David D; García-Barberán, Vanesa V; García-Paredes, Beatriz B; Pérez-Segura, Pedro P; de la Hoya, Miguel M; Díaz-Rubio, Eduardo E; Caldés, Trinidad T; Garre, Pilar P
Publication Date: 2017
Variant appearance in text: GALNT12: 907G>A; D303N
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: GALNT12: 907G>A; Asp303Asn; rs145236923
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Breast Cancer Research : Bcr
Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L
The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.
Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26
Variant appearance in text: GALNT12: 907G>A; D303N; rs145236923
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
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
A glycogene mutation map for discovery of diseases of glycosylation.
Glycobiology
Hansen, Lars L; Lind-Thomsen, Allan A; Joshi, Hiren J HJ; Pedersen, Nis Borbye NB; Have, Christian Theil CT; Kong, Yun Y; Wang, Shengjun S; Sparso, Thomas T; Grarup, Niels N; Vester-Christensen, Malene Bech MB; Schjoldager, Katrine K; Freeze, Hudson H HH; Hansen, Torben T; Pedersen, Oluf O; Henrissat, Bernard B; Mandel, Ulla U; Clausen, Henrik H; Wandall, Hans H HH; Bennett, Eric P EP
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Guda, Kishore K; Moinova, Helen H; He, Jian J; Jamison, Oliver O; Ravi, Lakshmeswari L; Natale, Leanna L; Lutterbaugh, James J; Lawrence, Earl E; Lewis, Susan S; Willson, James K V JK; Lowe, John B JB; Wiesner, Georgia L GL; Parmigiani, Giovanni G; Barnholtz-Sloan, Jill J; Dawson, Dawn W DW; Velculescu, Victor E VE; Kinzler, Kenneth W KW; Papadopoulos, Nikolas N; Vogelstein, Bert B; Willis, Joseph J; Gerken, Thomas A TA; Markowitz, Sanford D SD