Publications:

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Case report: A colorectal cancer patient with microsatellite instability-high and MSH2 germline mutation failed to respond to anti-PD-1 immunotherapy.

Frontiers In Immunology

Zhang, Qun Q; Hu, Jing J; Zhang, Yaping Y; Li, Li L; Wang, Ting T; Qian, Xiaoping X

Publication Date: 2022

Variant appearance in text: PTEN: K267fs

PubMed Link: 35990637

Variant Present in the following documents:

• Main text
• fimmu-13-953421.pdf

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Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications

Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA

Publication Date: 2022-05-03

Variant appearance in text: N/A

PubMed Link: 35504881

Variant Present in the following documents:

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Molecular Evaluation of Endometrial Dedifferentiated Carcinoma, Endometrioid Carcinoma, Carcinosarcoma, and Serous Carcinoma Using a Custom-Made Small Cancer Panel.

Pathology Oncology Research : Por

Kobayashi, Yusuke Y; Kitazono, Ikumi I; Akahane, Toshiaki T; Yanazume, Shintaro S; Kamio, Masaki M; Togami, Shinichi S; Nohara, Sachio S; Sakamoto, Ippei I; Yokoyama, Seiya S; Tabata, Kazuhiro K; Kobayashi, Hiroaki H; Tanimoto, Akihide A

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 35002543

Variant Present in the following documents:

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: PTEN: K267fs

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

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Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Bmc Medical Genomics

Miller, Eirwen M EM; Patterson, Nicole E NE; Gressel, Gregory M GM; Karabakhtsian, Rouzan G RG; Bejerano-Sagie, Michal M; Ravi, Nivedita N; Maslov, Alexander A; Quispe-Tintaya, Wilber W; Wang, Tao T; Lin, Juan J; Smith, Harriet O HO; Goldberg, Gary L GL; Kuo, Dennis Y S DYS; Montagna, Cristina C

Publication Date: 2020-11-30

Variant appearance in text: PTEN: Lys267fs

PubMed Link: 33256706

Variant Present in the following documents:

• 12920_2020_824_MOESM5_ESM.xlsx, sheet 1

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Characterization of Mutational Status, Spheroid Formation, and Drug Response of a New Genomically-Stable Human Ovarian Clear Cell Carcinoma Cell Line, 105C.

Cells

Kolendowski, Bart B; Valdes, Yudith Ramos YR; Hirte, Hal H; Itamochi, Hiroaki H; Lee, Wonjae W; Carey, Mark M; Shepherd, Trevor G TG; DiMattia, Gabriel E GE

Publication Date: 2020-11-03

Variant appearance in text: PTEN: Lys267fs

PubMed Link: 33153119

Variant Present in the following documents:

• Main text
• cells-09-02408.pdf

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BRAF status modulates Interelukin-8 expression through a CHOP-dependent mechanism in colorectal cancer.

Communications Biology

Conciatori, Fabiana F; Bazzichetto, Chiara C; Amoreo, Carla Azzurra CA; Sperduti, Isabella I; Donzelli, Sara S; Diodoro, Maria Grazia MG; Buglioni, Simonetta S; Falcone, Italia I; Shirasawa, Senji S; Blandino, Giovanni G; Ferretti, Gianluigi G; Cognetti, Francesco F; Milella, Michele M; Ciuffreda, Ludovica L

Publication Date: 2020-10-01

Variant appearance in text: PTEN: K267fs

PubMed Link: 33004975

Variant Present in the following documents:

• Main text
• 42003_2020_Article_1263.pdf

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NUDT7 Loss Promotes Kras CRC Development.

Cancers

Song, Jinsoo J; Park, Sujeong S; Oh, Jinjoo J; Kim, Deokha D; Ryu, Ji Hyun JH; Park, Won Cheol WC; Baek, In-Jeoung IJ; Cheng, Xi X; Lu, Xin X; Jin, Eun-Jung EJ

Publication Date: 2020-03-02

Variant appearance in text: N/A

PubMed Link: 32131398

Variant Present in the following documents:

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Japanese version of The Cancer Genome Atlas, JCGA, established using fresh frozen tumors obtained from 5143 cancer patients.

Cancer Science

Nagashima, Takeshi T; Yamaguchi, Ken K; Urakami, Kenichi K; Shimoda, Yuji Y; Ohnami, Sumiko S; Ohshima, Keiichi K; Tanabe, Tomoe T; Naruoka, Akane A; Kamada, Fukumi F; Serizawa, Masakuni M; Hatakeyama, Keiichi K; Matsumura, Kenya K; Ohnami, Shumpei S; Maruyama, Koji K; Mochizuki, Tohru T; Kusuhara, Masatoshi M; Shiomi, Akio A; Ohde, Yasuhisa Y; Terashima, Masanori M; Uesaka, Katsuhiko K; Onitsuka, Tetsuro T; Nishimura, Seiichiro S; Hirashima, Yasuyuki Y; Hayashi, Nakamasa N; Kiyohara, Yoshio Y; Tsubosa, Yasuhiro Y; Katagiri, Hirohisa H; Niwakawa, Masashi M; Takahashi, Kaoru K; Kashiwagi, Hiroya H; Nakagawa, Masahiro M; Ishida, Yuji Y; Sugino, Takashi T; Takahashi, Mitsuru M; Akiyama, Yasuto Y

Publication Date: 2020-02

Variant appearance in text: N/A

PubMed Link: 31863614

Variant Present in the following documents:

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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: PTEN: Lys267fs

PubMed Link: 31645765

Variant Present in the following documents:

• 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1

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Prognostic significance of tumor genotypes and CD8+ infiltrates in stage I-III colorectal cancer.

Oncotarget

Fountzilas, Elena E; Kotoula, Vassiliki V; Tikas, Ioannis I; Manousou, Kyriaki K; Papadopoulou, Kyriaki K; Poulios, Christos C; Karavasilis, Vasilios V; Efstratiou, Ioannis I; Pectasides, Dimitrios D; Papaparaskeva, Kleo K; Varthalitis, Ioannis I; Christodoulou, Christos C; Papatsibas, George G; Chrisafi, Sofia S; Glantzounis, Georgios K GK; Psyrri, Amanda A; Aravantinos, Gerasimos G; Koliou, Georgia-Angeliki GA; Koukoulis, George K GK; Pentheroudakis, George E GE; Fountzilas, George G

Publication Date: 2018-11-02

Variant appearance in text: PTEN: Lys267fs

PubMed Link: 30479693

Variant Present in the following documents:

• oncotarget-09-35623-s001.pdf

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The microbiome in PTEN hamartoma tumor syndrome.

Endocrine-Related Cancer

Byrd, Victoria V; Getz, Ted T; Padmanabhan, Roshan R; Arora, Hans H; Eng, Charis C

Publication Date: 2018-03

Variant appearance in text: N/A

PubMed Link: 29233840

Variant Present in the following documents:

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Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Molecular Cancer

Berg, Kaja C G KCG; Eide, Peter W PW; Eilertsen, Ina A IA; Johannessen, Bjarne B; Bruun, Jarle J; Danielsen, Stine A SA; Bjørnslett, Merete M; Meza-Zepeda, Leonardo A LA; Eknæs, Mette M; Lind, Guro E GE; Myklebost, Ola O; Skotheim, Rolf I RI; Sveen, Anita A; Lothe, Ragnhild A RA

Publication Date: 2017-07-06

Variant appearance in text: N/A

PubMed Link: 28683746

Variant Present in the following documents:

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: PTEN: K267fs

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

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