Publications:

Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.

Frontiers In Oncology

Olkinuora, Alisa Petriina AP; Mayordomo, Andrea Constanza AC; Kauppinen, Anni Katariina AK; Cerliani, María Belén MB; Coraglio, Mariana M; Collia, Ávila Karina ÁK; Gutiérrez, Alejandro A; Alvarez, Karin K; Cassana, Alessandra A; Lopéz-Köstner, Francisco F; Jauk, Federico F; García-Rivello, Hernán H; Ristimäki, Ari A; Koskenvuo, Laura L; Lepistö, Anna A; Nieminen, Taina Tuulikki TT; Vaccaro, Carlos Alberto CA; Pavicic, Walter Hernán WH; Peltomäki, Päivi P

Publication Date: 2022

Variant appearance in text: TTC33: 677C>G; Ser226Ter

PubMed Link: 36387175

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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: TTC33: S226X; rs140209301

PubMed Link: 30380422

Variant Present in the following documents:

• NIHMS1511993-supplement-6.xlsx, sheet 1

View BVdb publication page

Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: TTC33: S226X

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma.

Plos One

Campbell, Catarina D CD; Mohajeri, Kiana K; Malig, Maika M; Hormozdiari, Fereydoun F; Nelson, Benjamin B; Du, Gaixin G; Patterson, Kristen M KM; Eng, Celeste C; Torgerson, Dara G DG; Hu, Donglei D; Herman, Catherine C; Chong, Jessica X JX; Ko, Arthur A; O'Roak, Brian J BJ; Krumm, Niklas N; Vives, Laura L; Lee, Choli C; Roth, Lindsey A LA; Rodriguez-Cintron, William W; Rodriguez-Santana, Jose J; Brigino-Buenaventura, Emerita E; Davis, Adam A; Meade, Kelley K; LeNoir, Michael A MA; Thyne, Shannon S; Jackson, Daniel J DJ; Gern, James E JE; Lemanske, Robert F RF; Shendure, Jay J; Abney, Mark M; Burchard, Esteban G EG; Ober, Carole C; Eichler, Evan E EE

Publication Date: 2014

Variant appearance in text: TTC33: S226X; rs140209301

PubMed Link: 25116239

Variant Present in the following documents:

• pone.0104396.s005.xlsx, sheet 1

View BVdb publication page

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

Publication Date: 2014

Variant appearance in text: TTC33: S226*

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-5.xlsx, sheet 1
• NIHMS551112-supplement-8.xlsx, sheet 1

View BVdb publication page