Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: APC: 1548+1G>A

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: APC: 1548+1G>A

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: APC: 1548+1G>A

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: APC: 1548+1G>A

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

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A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.

Familial Cancer

Aydemirli, M D MD; van der Tuin, K K; Hes, F J FJ; van den Ouweland, A M W AMW; van Wezel, T T; Kapiteijn, E E; Morreau, H H

Publication Date: 2020-01

Variant appearance in text: APC: 1548+1G>A

PubMed Link: 31598872

Variant Present in the following documents:

• Main text
• 10689_2019_Article_146.pdf

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Exploiting differential Wnt target gene expression to generate a molecular biomarker for colorectal cancer stratification.

Gut

Kleeman, Sam O SO; Koelzer, Viktor H VH; Jones, Helen Js HJ; Vazquez, Ester Gil EG; Davis, Hayley H; East, James E JE; Arnold, Roland R; Koppens, Martijn Aj MA; Blake, Andrew A; Domingo, Enric E; Cunningham, Chris C; Beggs, Andrew D AD; Pestinger, Valerie V; Loughrey, Maurice B MB; Wang, Lai-Mun LM; Lannagan, Tamsin Rm TR; Woods, Susan L SL; Worthley, Daniel D; Consortium, S Cort SC; Tomlinson, Ian I; Dunne, Philip D PD; Maughan, Timothy T; Leedham, Simon J SJ

Publication Date: 2020-06

Variant appearance in text: APC: 1548+1G>A

PubMed Link: 31563876

Variant Present in the following documents:

• gutjnl-2019-319126supp003.xlsx, sheet 3

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Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.

Oncogene

Rohlin, A A; Engwall, Y Y; Fritzell, K K; Göransson, K K; Bergsten, A A; Einbeigi, Z Z; Nilbert, M M; Karlsson, P P; Björk, J J; Nordling, M M

Publication Date: 2011-12-15

Variant appearance in text: APC: 1548+1G>A

PubMed Link: 21643010

Variant Present in the following documents:

• Main text

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