Publications:

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NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.

Scientific Reports

Belhadj, Sami S; Quintana, Isabel I; Mur, Pilar P; Munoz-Torres, Pau M PM; Alonso, M Henar MH; Navarro, Matilde M; Terradas, Mariona M; Piñol, Virginia V; Brunet, Joan J; Moreno, Victor V; Lázaro, Conxi C; Capellá, Gabriel G; Valle, Laura L

Publication Date: 2019-06-21

Variant appearance in text: APC: 1145G>A

PubMed Link: 31227763

Variant Present in the following documents:

• 41598_2019_45281_MOESM1_ESM.pdf

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: APC: 1145G>A

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

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Molecular approach to genetic and epigenetic pathogenesis of early-onset colorectal cancer.

World Journal Of Gastrointestinal Oncology

Tezcan, Gulcin G; Tunca, Berrin B; Ak, Secil S; Cecener, Gulsah G; Egeli, Unal U

Publication Date: 2016-01-15

Variant appearance in text: APC: 1145G>A

PubMed Link: 26798439

Variant Present in the following documents:

• Main text

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Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Susswein, Lisa R LR; Marshall, Megan L ML; Nusbaum, Rachel R; Vogel Postula, Kristen J KJ; Weissman, Scott M SM; Yackowski, Lauren L; Vaccari, Erica M EM; Bissonnette, Jeffrey J; Booker, Jessica K JK; Cremona, M Laura ML; Gibellini, Federica F; Murphy, Patricia D PD; Pineda-Alvarez, Daniel E DE; Pollevick, Guido D GD; Xu, Zhixiong Z; Richard, Gabi G; Bale, Sherri S; Klein, Rachel T RT; Hruska, Kathleen S KS; Chung, Wendy K WK

Publication Date: 2016-08

Variant appearance in text: APC: 1145G>A

PubMed Link: 26681312

Variant Present in the following documents:

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Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012.

European Journal Of Human Genetics : Ejhg

Aretz, Stefan S; Genuardi, Maurizio M; Hes, Frederik J FJ

Publication Date: 2013-01

Variant appearance in text: APC: 1145G>A

PubMed Link: 22872101

Variant Present in the following documents:

• Main text

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ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

The Journal Of Molecular Diagnostics : Jmd

Pritchard, Colin C CC; Smith, Christina C; Salipante, Stephen J SJ; Lee, Ming K MK; Thornton, Anne M AM; Nord, Alex S AS; Gulden, Cassandra C; Kupfer, Sonia S SS; Swisher, Elizabeth M EM; Bennett, Robin L RL; Novetsky, Akiva P AP; Jarvik, Gail P GP; Olopade, Olufunmilayo I OI; Goodfellow, Paul J PJ; King, Mary-Claire MC; Tait, Jonathan F JF; Walsh, Tom T

Publication Date: 2012-07

Variant appearance in text: APC: 1145G>A

PubMed Link: 22658618

Variant Present in the following documents:

• Main text

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The genetic basis of colorectal cancer in a population-based incident cohort with a high rate of familial disease.

Gut

Woods, M O MO; Younghusband, H B HB; Parfrey, P S PS; Gallinger, S S; McLaughlin, J J; Dicks, E E; Stuckless, S S; Pollett, A A; Bapat, B B; Mrkonjic, M M; de la Chapelle, A A; Clendenning, M M; Thibodeau, S N SN; Simms, M M; Dohey, A A; Williams, P P; Robb, D D; Searle, C C; Green, J S JS; Green, R C RC

Publication Date: 2010-10

Variant appearance in text:

PubMed Link: 20682701

Variant Present in the following documents:

• Main text

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Molecular analysis of the APC and MUTYH genes in Galician and Catalonian FAP families: a different spectrum of mutations?

Bmc Medical Genetics

Gómez-Fernández, Nuria N; Castellví-Bel, Sergi S; Fernández-Rozadilla, Ceres C; Balaguer, Francesc F; Muñoz, Jenifer J; Madrigal, Irene I; Milà, Montserrat M; Graña, Begoña B; Vega, Ana A; Castells, Antoni A; Carracedo, Angel A; Ruiz-Ponte, Clara C

Publication Date: 2009-06-16

Variant appearance in text: APC: 1145G>A

PubMed Link: 19531215

Variant Present in the following documents:

• Main text
• 1471-2350-10-57.pdf

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