Publications:

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Genetic landscape of colorectal cancer patients manifesting tumor shrinkage during SARS-Cov-2 infection.

Therapeutic Advances In Medical Oncology

Ottaiano, Alessandro A; Santorsola, Mariachiara M; Circelli, Luisa L; Cascella, Marco M; Petrillo, Nadia N; Perri, Francesco F; Casillo, Marika M; Granata, Vincenza V; Ianniello, Monica M; Izzo, Francesco F; Picone, Carmine C; Correra, Marco M; Petrillo, Antonella A; Sirica, Roberto R; Misso, Gabriella G; Delrio, Paolo P; Nasti, Guglielmo G; Savarese, Giovanni G; Caraglia, Michele M

Publication Date: 2022

Variant appearance in text: APC: Ser1196Ter

PubMed Link: 36518158

Variant Present in the following documents:

• Main text
• 10.1177_17588359221138388.pdf
• sj-xlsx-1-tam-10.1177_17588359221138388.xlsx, sheet 1

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Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Nature Communications

Robinson, Philip S PS; Thomas, Laura E LE; Abascal, Federico F; Jung, Hyunchul H; Harvey, Luke M R LMR; West, Hannah D HD; Olafsson, Sigurgeir S; Lee, Bernard C H BCH; Coorens, Tim H H THH; Lee-Six, Henry H; Butlin, Laura L; Lander, Nicola N; Truscott, Rebekah R; Sanders, Mathijs A MA; Lensing, Stefanie V SV; Buczacki, Simon J A SJA; Ten Hoopen, Rogier R; Coleman, Nicholas N; Brunton-Sim, Roxanne R; Rushbrook, Simon S; Saeb-Parsy, Kourosh K; Lalloo, Fiona F; Campbell, Peter J PJ; Martincorena, Iñigo I; Sampson, Julian R JR; Stratton, Michael R MR

Publication Date: 2022-07-08

Variant appearance in text: APC: S1196*

PubMed Link: 35803914

Variant Present in the following documents:

• 41467_2022_31341_MOESM4_ESM.xlsx, sheet 1

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Synonymous mutation adenomatous polyposis coliΔ486s affects exon splicing and may predispose patients to adenomatous polyposis coli/mutY DNA glycosylase mutation‑negative familial adenomatous polyposis.

Molecular Medicine Reports

Liu, Wei Qing WQ; Dong, Jian J; Peng, Yan Xia YX; Li, Wen Liang WL; Yang, Jun J

Publication Date: 2018-12

Variant appearance in text: APC: 3587C>A; Ser1196Ter

PubMed Link: 30272267

Variant Present in the following documents:

• Main text
• mmr-18-06-4931.pdf

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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: 3587C>A; Ser1196X

PubMed Link: 29901124

Variant Present in the following documents:

• Main text
• mmr-18-02-1423.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: APC: 3587C>A; S1196*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Investigating polymorphisms by bioinformatics is a potential cost-effective method to screen for germline mutations in Chinese familial adenomatous polyposis patients.

Oncology Letters

Yang, Jun J; Liu, Wei Qing WQ; Li, Wen Liang WL; Chen, Cheng C; Zhu, Zhu Z; Hong, Min M; Wang, Zhi Qiang ZQ; Dong, Jian J

Publication Date: 2016-07

Variant appearance in text: APC: S1196X

PubMed Link: 27347161

Variant Present in the following documents:

• Main text
• ol-12-01-0421.pdf

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: N/A

PubMed Link: 27149842

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: 3587C>A; Ser1196X

PubMed Link: 20223039

Variant Present in the following documents:

• Main text
• 1897-4287-3-3-95.pdf

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