Publications:

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: rs746930141

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 6

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Improvements in Quality Control and Library Preparation for Targeted Sequencing Allowed Detection of Potentially Pathogenic Alterations in Circulating Cell-Free DNA Derived from Plasma of Brain Tumor Patients.

Cancers

Szadkowska, Paulina P; Roura, Adria-Jaume AJ; Wojtas, Bartosz B; Wojnicki, Kamil K; Licholai, Sabina S; Waller, Tomasz T; Gubala, Tomasz T; Zukowski, Kacper K; Karpeta, Michal M; Wilkus, Kinga K; Kaspera, Wojciech W; Nawrocki, Sergiusz S; Kaminska, Bozena B

Publication Date: 2022-08-12

Variant appearance in text: rs746930141

PubMed Link: 36010895

Variant Present in the following documents:

• cancers-14-03902.pdf

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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: PTEN: 919G>T; E307*

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: PTEN: 919G>T; E307*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Ebiomedicine

Scholl, Suzy M SM; Beal, Jonas J; de Koning, Leanne L; Girard, Elodie E; Popovic, Marina M; de la Rochefordière, Anne A; Lecuru, Fabrice F; Fourchotte, Virginie V; Ngo, Charlotte C; Floquet, Anne A; Berns, Els Mjj EM; Kenter, Gemma G; Gestraud, Pierre P; von der Leyen, Heiko H; Lecerf, Charlotte C; Puard, Vincent V; Roman, Sergio Roman SR; Latouche, Aurelien A; Kereszt, Attila A; Balint, Balazs B; Rouzier, Roman R; Kamal, Maud M

Publication Date: 2020-11

Variant appearance in text: PTEN: 919G>T; E307X

PubMed Link: 33096476

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Molecular profiling identifies synchronous endometrial and ovarian cancers as metastatic endometrial cancer with favorable clinical outcome.

International Journal Of Cancer

Reijnen, Casper C; Küsters-Vandevelde, Heidi V N HVN; Ligtenberg, Marjolijn J L MJL; Bulten, Johan J; Oosterwegel, Marloes M; Snijders, Marc P L M MPLM; Sweegers, Sanne S; de Hullu, Joanne A JA; Vos, Maria C MC; van der Wurff, Anneke A M AAM; van Altena, Anne M AM; Eijkelenboom, Astrid A; Pijnenborg, Johanna M A JMA

Publication Date: 2020-07-15

Variant appearance in text: PTEN: 919G>T; Glu307*

PubMed Link: 32022266

Variant Present in the following documents:

• IJC-147-478-s001.pdf

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Integrative molecular and clinical modeling of clinical outcomes to PD1 blockade in patients with metastatic melanoma.

Nature Medicine

Liu, David D; Schilling, Bastian B; Liu, Derek D; Sucker, Antje A; Livingstone, Elisabeth E; Jerby-Arnon, Livnat L; Zimmer, Lisa L; Gutzmer, Ralf R; Satzger, Imke I; Loquai, Carmen C; Grabbe, Stephan S; Vokes, Natalie N; Margolis, Claire A CA; Conway, Jake J; He, Meng Xiao MX; Elmarakeby, Haitham H; Dietlein, Felix F; Miao, Diana D; Tracy, Adam A; Gogas, Helen H; Goldinger, Simone M SM; Utikal, Jochen J; Blank, Christian U CU; Rauschenberg, Ricarda R; von Bubnoff, Dagmar D; Krackhardt, Angela A; Weide, Benjamin B; Haferkamp, Sebastian S; Kiecker, Felix F; Izar, Ben B; Garraway, Levi L; Regev, Aviv A; Flaherty, Keith K; Paschen, Annette A; Van Allen, Eliezer M EM; Schadendorf, Dirk D

Publication Date: 2019-12

Variant appearance in text: PTEN: 919G>T

PubMed Link: 31792460

Variant Present in the following documents:

• 41591_2019_654_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: PTEN: E307*

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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KLLN epigenotype-phenotype associations in Cowden syndrome.

European Journal Of Human Genetics : Ejhg

Nizialek, Emily A EA; Mester, Jessica L JL; Dhiman, Vineet K VK; Smiraglia, Dominic J DJ; Eng, Charis C

Publication Date: 2015-11

Variant appearance in text: PTEN: 919G>T; Glu307Ter

PubMed Link: 25669429

Variant Present in the following documents:

View BVdb publication page

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Small cell and large cell neuroendocrine carcinomas of the pancreas are genetically similar and distinct from well-differentiated pancreatic neuroendocrine tumors.

The American Journal Of Surgical Pathology

Yachida, Shinichi S; Vakiani, Efsevia E; White, Catherine M CM; Zhong, Yi Y; Saunders, Tyler T; Morgan, Richard R; de Wilde, Roeland F RF; Maitra, Anirban A; Hicks, Jessica J; Demarzo, Angelo M AM; Shi, Chanjuan C; Sharma, Rajni R; Laheru, Daniel D; Edil, Barish H BH; Wolfgang, Christopher L CL; Schulick, Richard D RD; Hruban, Ralph H RH; Tang, Laura H LH; Klimstra, David S DS; Iacobuzio-Donahue, Christine A CA

Publication Date: 2012-02

Variant appearance in text: PTEN: E307X

PubMed Link: 22251937

Variant Present in the following documents:

• Main text

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