Publications:

Durable benefit from immunotherapy and accompanied lupus erythematosus in pancreatic adenocarcinoma with DNA repair deficiency.

Journal For Immunotherapy Of Cancer

Pang, Xionghao X; Qian, Juanjuan J; Jin, Hua H; Zhang, Lei L; Lin, Lin L; Wang, Yuli Y; Lei, Yi Y; Zhou, Zeqiang Z; Li, Meixiang M; Zhang, Henghui H

Publication Date: 2020-07

Variant appearance in text: CREBBP: 6137C>T; A2046V

PubMed Link: 32636238

Variant Present in the following documents:

• jitc-2019-000463supp001.pdf

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Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer

Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L

Publication Date: 2019-02-01

Variant appearance in text: CREBBP: 6137C>T; A2046V

PubMed Link: 30709382

Variant Present in the following documents:

• 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
• 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1

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Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yuan, Bo B; Neira, Juanita J; Pehlivan, Davut D; Santiago-Sim, Teresa T; Song, Xiaofei X; Rosenfeld, Jill J; Posey, Jennifer E JE; Patel, Vipulkumar V; Jin, Weihong W; Adam, Margaret P MP; Baple, Emma L EL; Dean, John J; Fong, Chin-To CT; Hickey, Scott E SE; Hudgins, Louanne L; Leon, Eyby E; Madan-Khetarpal, Suneeta S; Rawlins, Lettie L; Rustad, Cecilie F CF; Stray-Pedersen, Asbjørg A; Tveten, Kristian K; Wenger, Olivia O; Diaz, Jullianne J; Jenkins, Laura L; Martin, Laura L; McGuire, Marianne M; Pietryga, Marguerite M; Ramsdell, Linda L; Slattery, Leah L; , ; Abid, Farida F; Bertuch, Alison A AA; Grange, Dorothy D; Immken, LaDonna L; Schaaf, Christian P CP; Van Esch, Hilde H; Bi, Weimin W; Cheung, Sau Wai SW; Breman, Amy M AM; Smith, Janice L JL; Shaw, Chad C; Crosby, Andrew H AH; Eng, Christine C; Yang, Yaping Y; Lupski, James R JR; Xiao, Rui R; Liu, Pengfei P

Publication Date: 2019-03

Variant appearance in text: CREBBP: 6137C>T; A2046V

PubMed Link: 30158690

Variant Present in the following documents:

• Main text
• nihms-973104.pdf

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: CREBBP: 6137C>T; A2046V

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page