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: 3577_3578del; Gln1193fs

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 3577_3578delCA; Q1193Vfs*14

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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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: Q1193Vfs*14

PubMed Link: 32461694

Variant Present in the following documents:

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

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A neoepitope derived from a novel human germline APC gene mutation in familial adenomatous polyposis shows selective immunogenicity.

Plos One

Majumder, Snigdha S; Shah, Rakshit R; Elias, Jisha J; Mistry, Yogesh Y; Coral, Karunakaran K; Shah, Priyanka P; Maurya, Anand Kumar AK; Mittal, Bharti B; D'Silva, Jason K JK; Murugan, Sakthivel S; Mahadevan, Lakshmi L; Sathian, Rekha R; Ramprasad, V L VL; Chakraborty, Papia P; Gupta, Ravi R; Chaudhuri, Amitabha A; Khanna-Gupta, Arati A

Publication Date: 2018

Variant appearance in text: N/A

PubMed Link: 30256815

Variant Present in the following documents:

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Oxidative DNA damage induces hypomethylation in a compromised base excision repair colorectal tumourigenesis.

British Journal Of Cancer

Furlan, Daniela D; Trapani, Davide D; Berrino, Enrico E; Debernardi, Carla C; Panero, Mara M; Libera, Laura L; Sahnane, Nora N; Riva, Cristina C; Tibiletti, Maria Grazia MG; Sessa, Fausto F; Sapino, Anna A; Venesio, Tiziana T

Publication Date: 2017-03-14

Variant appearance in text: APC: Q1193VfsX14

PubMed Link: 28141798

Variant Present in the following documents:

• bjc20179x1.pdf

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Clinicopathological features of familial adenomatous polyposis in Korean patients.

World Journal Of Gastroenterology

Jung, Sung Min SM; Yoon, Yong Sik YS; Lim, Seok-Byeong SB; Yu, Chang Sik CS; Kim, Jin Cheon JC

Publication Date: 2016-05-07

Variant appearance in text: N/A

PubMed Link: 27158207

Variant Present in the following documents:

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Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.

Hereditary Cancer In Clinical Practice

Friedl, Waltraut W; Aretz, Stefan S

Publication Date: 2005-09-15

Variant appearance in text: APC: 3577_3578delCA; Gln1193fs

PubMed Link: 20223039

Variant Present in the following documents:

• Main text
• 1897-4287-3-3-95.pdf

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Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.

Bmc Medicine

Kanter-Smoler, Gunilla G; Fritzell, Kaisa K; Rohlin, Anna A; Engwall, Yvonne Y; Hallberg, Birgitta B; Bergman, Annika A; Meuller, Johan J; Grönberg, Henrik H; Karlsson, Per P; Björk, Jan J; Nordling, Margareta M

Publication Date: 2008-04-24

Variant appearance in text: N/A

PubMed Link: 18433509

Variant Present in the following documents:

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