Publications:

---

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: ARID1A: 4381C>T; Arg1461Ter

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications

Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI

Publication Date: 2023-02-08

Variant appearance in text: ARID1A: R1461*

PubMed Link: 36755027

Variant Present in the following documents:

• 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

---

Comprehensive ctDNA measurements improve prediction of clinical outcomes and enable dynamic tracking of disease progression in advanced pancreatic cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Lapin, Morten M; Edland, Karin H KH; Tjensvoll, Kjersti K; Oltedal, Satu S; Austdal, Marie M; Garresori, Herish H; Rozenholc, Yves Y; Gilje, Bjørnar B; Nordgård, Oddmund O

Publication Date: 2023-01-20

Variant appearance in text: ARID1A: R1461*

PubMed Link: 36662807

Variant Present in the following documents:

• ccr-22-3526_supplemental_table_2_suppts2.xlsx, sheet 1

View BVdb publication page

---

Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology

Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H

Publication Date: 2022

Variant appearance in text: ARID1A: 4381C>T

PubMed Link: 36425562

Variant Present in the following documents:

• Table_4.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

---

Pathologic complete response to immune checkpoint inhibitor in a stage IIIB ovarian clear cell carcinoma patient with POLE mutation resistant to platinum-based chemotherapy: a case report.

Gland Surgery

Li, Shuzhan S; Zhang, Jiali J; Du, Weijiao W; Ren, Xiubao X; Zhang, Xinwei X

Publication Date: 2022-09

Variant appearance in text: ARID1A: 4381C>T; Arg1461*

PubMed Link: 36221285

Variant Present in the following documents:

• Main text
• gs-11-09-1562.pdf

View BVdb publication page

---

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: ARID1A: R1461X

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

---

A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine

Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY

Publication Date: 2022-05-17

Variant appearance in text: ARID1A: 4381C>T; Arg1461Ter

PubMed Link: 35584624

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

View BVdb publication page

---

Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine

Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H

Publication Date: 2022-04

Variant appearance in text: ARID1A: 4381C>T; R1461*

PubMed Link: 35384329

Variant Present in the following documents:

• CTM2-12-e799-s006.xlsx, sheet 2

View BVdb publication page

---

Limitations of Monitoring Disease Progression Using Circulating Tumor DNA in Lymphoma: An Example From Primary Cutaneous DLBCL Leg-type.

Hemasphere

Trethewey, Christopher S CS; Walter, Harriet S HS; Alqahtani, Abdullah N M ANM; Schmid, Ralf R; Guttery, David S DS; Griffin, Yvette Y; Ahearne, Matthew J MJ; Saldanha, Gerald S GS; Jayne, Sandrine P N SPN; Dyer, Martin J S MJS

Publication Date: 2022-03

Variant appearance in text: ARID1A: Arg1461Ter

PubMed Link: 35261967

Variant Present in the following documents:

• Main text
• hs9-6-e690.pdf
• hs9-6-e690-s001.xlsx, sheet 1

View BVdb publication page

---

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology

Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE

Publication Date: 2022-06

Variant appearance in text: ARID1A: R1461*

PubMed Link: 35165384

Variant Present in the following documents:

• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
• NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
• NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4

View BVdb publication page

---

Genomic characteristics of invasive mucinous adenocarcinoma of the lung with multiple pulmonary sites of involvement.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Kim, Moonsik M; Hwang, Jinha J; Kim, Kyung A KA; Hwang, Sohyun S; Lee, Hye-Jeong HJ; Jung, Ji Ye JY; Lee, Jin Gu JG; Cha, Yoon Jin YJ; Shim, Hyo Sup HS

Publication Date: 2021-07-21

Variant appearance in text: ARID1A: 4381C>T; Arg1461*

PubMed Link: 34290355

Variant Present in the following documents:

• Main text
• 41379_2021_872_MOESM1_ESM.pdf
• 41379_2021_Article_872.pdf

View BVdb publication page

---

Genomic characteristics of invasive mucinous adenocarcinoma of the lung with multiple pulmonary sites of involvement.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Kim, Moonsik M; Hwang, Jinha J; Kim, Kyung A KA; Hwang, Sohyun S; Lee, Hye-Jeong HJ; Jung, Ji Ye JY; Lee, Jin Gu JG; Cha, Yoon Jin YJ; Shim, Hyo Sup HS

Publication Date: 2022-02

Variant appearance in text: ARID1A: 4381C>T; Arg1461*

PubMed Link: 34290355

Variant Present in the following documents:

• Main text
• 41379_2021_872_MOESM1_ESM.pdf
• 41379_2021_Article_872.pdf

View BVdb publication page

---

A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.

Bmc Cancer

Xiao, Jian J; Li, Wenyun W; Huang, Yan Y; Huang, Mengli M; Li, Shanshan S; Zhai, Xiaohui X; Zhao, Jing J; Gao, Chan C; Xie, Wenzhuan W; Qin, Hao H; Cai, Shangli S; Bai, Yuezong Y; Lan, Ping P; Zou, Yifeng Y

Publication Date: 2021-03-16

Variant appearance in text: ARID1A: 4381C>T; R1461*

PubMed Link: 33726687

Variant Present in the following documents:

• 12885_2021_7942_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

ARID1A alterations and their clinical significance in cholangiocarcinoma.

Peerj

Namjan, Achira A; Techasen, Anchalee A; Loilome, Watcharin W; Sa-Ngaimwibool, Prakasit P; Jusakul, Apinya A

Publication Date: 2020

Variant appearance in text: ARID1A: R1461*

PubMed Link: 33344089

Variant Present in the following documents:

• peerj-08-10464-s002.xlsx, sheet 1

View BVdb publication page

---

Genetic alterations and expression characteristics of ARID1A impact tumor immune contexture and survival in early-onset gastric cancer.

American Journal Of Cancer Research

Zou, Jun J; Qin, Wan W; Yang, Lin L; Wang, Lulu L; Wang, Yu Y; Shen, Jianfeng J; Xiong, Wei W; Yu, Shiying S; Song, Shumei S; Ajani, Jaffer A JA; Lin, Shiaw-Yih SY; Mills, Gordon B GB; Yuan, Xianglin X; Chen, Jianying J; Peng, Guang G

Publication Date: 2020

Variant appearance in text: ARID1A: 4381C>T; R1461X

PubMed Link: 33294279

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: ARID1A: 4381C>T; R1461*

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

---

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications

Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM

Publication Date: 2020-11-10

Variant appearance in text: ARID1A: R1461*

PubMed Link: 33173047

Variant Present in the following documents:

• 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

---

ARID1A protein expression is retained in ovarian endometriosis with ARID1A loss-of-function mutations: implication for the two-hit hypothesis.

Scientific Reports

Yachida, Nozomi N; Yoshihara, Kosuke K; Suda, Kazuaki K; Nakaoka, Hirofumi H; Ueda, Haruka H; Sugino, Kentaro K; Yamaguchi, Manako M; Mori, Yutaro Y; Yamawaki, Kaoru K; Tamura, Ryo R; Ishiguro, Tatsuya T; Isobe, Masanori M; Motoyama, Teiichi T; Inoue, Ituro I; Enomoto, Takayuki T

Publication Date: 2020-08-31

Variant appearance in text: ARID1A: R1461X

PubMed Link: 32868822

Variant Present in the following documents:

• Main text
• 41598_2020_Article_71273.pdf

View BVdb publication page

---

Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: ARID1A: R1461*

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

View BVdb publication page

---

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: ARID1A: R1461X

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

---

mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: ARID1A: R1461*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

---

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: ARID1A: R1461*

PubMed Link: 32461694

Variant Present in the following documents:

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

View BVdb publication page

---

Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: ARID1A: R1461*

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

---

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: ARID1A: 4381C>T; R1461*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
• 42003_2019_736_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

---

Analysis of gene expression signatures identifies prognostic and functionally distinct ovarian clear cell carcinoma subtypes.

Ebiomedicine

Tan, Tuan Zea TZ; Ye, Jieru J; Yee, Chung Vin CV; Lim, Diana D; Ngoi, Natalie Yan Li NYL; Tan, David Shao Peng DSP; Huang, Ruby Yun-Ju RY

Publication Date: 2019-12

Variant appearance in text: ARID1A: 4381C>T; R1461*

PubMed Link: 31761620

Variant Present in the following documents:

• mmc1.xlsx, sheet 7

View BVdb publication page

---

Hepatoid adenocarcinoma of the stomach: a unique subgroup with distinct clinicopathological and molecular features.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Wang, Yakun Y; Sun, Li L; Li, Zhongwu Z; Gao, Jing J; Ge, Sai S; Zhang, Cheng C; Yuan, Jiajia J; Wang, Xicheng X; Li, Jian J; Lu, Zhihao Z; Gong, Jifang J; Lu, Ming M; Zhou, Jun J; Peng, Zhi Z; Shen, Lin L; Zhang, Xiaotian X

Publication Date: 2019-11

Variant appearance in text: ARID1A: R1461X

PubMed Link: 30989433

Variant Present in the following documents:

• 10120_2019_965_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

---

Analysis of error profiles in deep next-generation sequencing data.

Genome Biology

Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J

Publication Date: 2019-03-14

Variant appearance in text: ARID1A: R1461*

PubMed Link: 30867008

Variant Present in the following documents:

• 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7

View BVdb publication page

---

Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.

Cancer Science

Sunami, Kuniko K; Ichikawa, Hitoshi H; Kubo, Takashi T; Kato, Mamoru M; Fujiwara, Yutaka Y; Shimomura, Akihiko A; Koyama, Takafumi T; Kakishima, Hiroki H; Kitami, Mayuko M; Matsushita, Hiromichi H; Furukawa, Eisaku E; Narushima, Daichi D; Nagai, Momoko M; Taniguchi, Hirokazu H; Motoi, Noriko N; Sekine, Shigeki S; Maeshima, Akiko A; Mori, Taisuke T; Watanabe, Reiko R; Yoshida, Masayuki M; Yoshida, Akihiko A; Yoshida, Hiroshi H; Satomi, Kaishi K; Sukeda, Aoi A; Hashimoto, Taiki T; Shimizu, Toshio T; Iwasa, Satoru S; Yonemori, Kan K; Kato, Ken K; Morizane, Chigusa C; Ogawa, Chitose C; Tanabe, Noriko N; Sugano, Kokichi K; Hiraoka, Nobuyoshi N; Tamura, Kenji K; Yoshida, Teruhiko T; Fujiwara, Yasuhiro Y; Ochiai, Atsushi A; Yamamoto, Noboru N; Kohno, Takashi T

Publication Date: 2019-04

Variant appearance in text: ARID1A: R1461*

PubMed Link: 30742731

Variant Present in the following documents:

• CAS-110-1480-s003.xlsx, sheet 3

View BVdb publication page

---

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: ARID1A: 4381C>T; R1461*

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s021.xlsx, sheet 1

View BVdb publication page

---

Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget

Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P

Publication Date: 2017-12-08

Variant appearance in text: ARID1A: R1461*

PubMed Link: 29296220

Variant Present in the following documents:

• oncotarget-08-108020-s006.xlsx, sheet 1

View BVdb publication page

---

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: ARID1A: 4381C>T; R1461*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

---

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: ARID1A: R1461*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

---