Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: APC: 1548G>C; K516N; rs879254090

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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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: 1548G>C; Lys516Asn

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: APC: K516N

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Are transient protein-protein interactions more dispensable?

Plos Computational Biology

Ghadie, Mohamed Ali MA; Xia, Yu Y

Publication Date: 2022-04

Variant appearance in text: APC: 1548G>C; Lys516Asn

PubMed Link: 35404956

Variant Present in the following documents:

• pcbi.1010013.s002.xlsx, sheet 4

View BVdb publication page

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Curated multiple sequence alignment for the Adenomatous Polyposis Coli (APC) gene and accuracy of in silico pathogenicity predictions.

Plos One

Karabachev, Alexander D AD; Martini, Dylan J DJ; Hermel, David J DJ; Solcz, Dana D; Richardson, Marcy E ME; Pesaran, Tina T; Sarkar, Indra Neil IN; Greenblatt, Marc S MS

Publication Date: 2020

Variant appearance in text: APC: K516N

PubMed Link: 32750050

Variant Present in the following documents:

• Main text
• pone.0233673.pdf

View BVdb publication page

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Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature

Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E

Publication Date: 2019-11

Variant appearance in text: APC: Lys516Asn

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: APC: 1548G>C; K516N

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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A novel APC mutation identified in a large Chinese family with familial adenomatous polyposis and a brief literature review.

Molecular Medicine Reports

Pang, Minghui M; Liu, Yijun Y; Hou, Xiaolin X; Yang, Jialiang J; He, Xuelai X; Hou, Nengyi N; Liu, Peixi P; Liang, Luo L; Fu, Junwen J; Wang, Kang K; Ye, Zimeng Z; Gong, Bo B

Publication Date: 2018-08

Variant appearance in text: APC: 1548G>C; Lys516Asn

PubMed Link: 29901124

Variant Present in the following documents:

• Main text
• mmr-18-02-1423.pdf

View BVdb publication page

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DNA copy number changes define spatial patterns of heterogeneity in colorectal cancer.

Nature Communications

Mamlouk, Soulafa S; Childs, Liam Harold LH; Aust, Daniela D; Heim, Daniel D; Melching, Friederike F; Oliveira, Cristiano C; Wolf, Thomas T; Durek, Pawel P; Schumacher, Dirk D; Bläker, Hendrik H; von Winterfeld, Moritz M; Gastl, Bastian B; Möhr, Kerstin K; Menne, Andrea A; Zeugner, Silke S; Redmer, Torben T; Lenze, Dido D; Tierling, Sascha S; Möbs, Markus M; Weichert, Wilko W; Folprecht, Gunnar G; Blanc, Eric E; Beule, Dieter D; Schäfer, Reinhold R; Morkel, Markus M; Klauschen, Frederick F; Leser, Ulf U; Sers, Christine C

Publication Date: 2017-01-25

Variant appearance in text: APC: 1548G>C; K516N

PubMed Link: 28120820

Variant Present in the following documents:

• ncomms14093-s2.xlsx, sheet 1

View BVdb publication page

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Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.

Tumour Biology : The Journal Of The International Society For Oncodevelopmental Biology And Medicine

Liu, Qi Q; Li, Xiaoxia X; Li, Sen S; Qu, Shengqiang S; Wang, Yu Y; Tang, Qingzhu Q; Ma, Hongwei H; Luo, Yang Y

Publication Date: 2016-08

Variant appearance in text: APC: 1548G>C; Lys516Asn

PubMed Link: 27000756

Variant Present in the following documents:

• Main text
• 13277_2016_Article_4986.pdf

View BVdb publication page

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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: 1548G>C; Lys516Asn

PubMed Link: 20223039

Variant Present in the following documents:

• Main text
• 1897-4287-3-3-95.pdf

View BVdb publication page

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