Publications:

---

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: 487C>T; Gln163Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: APC: 487C>T; Q163*

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

---

Rapid Rectal Polyposis Development in a Patient With Familial Adenomatous Polyposis.

Acg Case Reports Journal

Abrams, Hannah R HR; Lee, Michelle M; Dahdal, Sami S; Khalaf, Natalia N

Publication Date: 2020-10

Variant appearance in text: APC: 487C>T

PubMed Link: 33134403

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Prognostic Significance of Oxidation Pathway Mutations in Recurrent Laryngeal Squamous Cell Carcinoma.

Cancers

Heft Neal, Molly E ME; Bhangale, Apurva D AD; Birkeland, Andrew C AC; McHugh, Jonathan B JB; Shuman, Andrew G AG; Rosko, Andrew J AJ; Swiecicki, Paul L PL; Spector, Matthew E ME; Brenner, J Chad JC

Publication Date: 2020-10-22

Variant appearance in text: APC: Q163*

PubMed Link: 33105726

Variant Present in the following documents:

• cancers-12-03081.pdf

View BVdb publication page

---

Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: APC: Q163*

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

---

Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing.

Frontiers In Oncology

Wang, Yao Y; Yu, Mei M; Yang, Jia-Xin JX; Cao, Dong-Yan DY; Zhang, Ying Y; Zhou, Hui-Mei HM; Yuan, Zhen Z; Shen, Keng K

Publication Date: 2019

Variant appearance in text: APC: 487C>T; Q163X

PubMed Link: 30886832

Variant Present in the following documents:

• Table_2.xls, sheet 2
• Table_2.xls, sheet 1

View BVdb publication page

---

Ectopic expression of P-cadherin correlates with promoter hypomethylation early in colorectal carcinogenesis and enhanced intestinal crypt fission in vivo.

Cancer Research

Milicic, Anita A; Harrison, Lea-Anne LA; Goodlad, Robert A RA; Hardy, Robert G RG; Nicholson, Anna M AM; Presz, Michal M; Sieber, Oliver O; Santander, Sonia S; Pringle, James H JH; Mandir, Nikki N; East, Philip P; Obszynska, Jolanta J; Sanders, Scott S; Piazuelo, Elena E; Shaw, Jacqui J; Harrison, Rebecca R; Tomlinson, Ian P IP; McDonald, Stuart A C SA; Wright, Nicholas A NA; Jankowski, Janusz A Z JA

Publication Date: 2008-10-01

Variant appearance in text: APC: Q163X

PubMed Link: 18829530

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Putative direct and indirect Wnt targets identified through consistent gene expression changes in APC-mutant intestinal adenomas from humans and mice.

Human Molecular Genetics

Segditsas, Stefania S; Sieber, Oliver O; Deheragoda, Maesha M; East, Phil P; Rowan, Andrew A; Jeffery, Rosemary R; Nye, Emma E; Clark, Susan S; Spencer-Dene, Bradley B; Stamp, Gordon G; Poulsom, Richard R; Suraweera, Nirosha N; Silver, Andrew A; Ilyas, Mohammad M; Tomlinson, Ian I

Publication Date: 2008-12-15

Variant appearance in text: APC: Q163X

PubMed Link: 18782851

Variant Present in the following documents:

• Main text
• ddn286.pdf

View BVdb publication page

---

Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.

Gut

Sieber, O M OM; Segditsas, S S; Knudsen, A L AL; Zhang, J J; Luz, J J; Rowan, A J AJ; Spain, S L SL; Thirlwell, C C; Howarth, K M KM; Jaeger, E E M EE; Robinson, J J; Volikos, E E; Silver, A A; Kelly, G G; Aretz, S S; Frayling, I I; Hutter, P P; Dunlop, M M; Guenther, T T; Neale, K K; Phillips, R R; Heinimann, K K; Tomlinson, I P M IP

Publication Date: 2006-10

Variant appearance in text: APC: Q163X

PubMed Link: 16461775

Variant Present in the following documents:

• Main text

View BVdb publication page

---