Publications:

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The genetic heterogeneity and drug resistance mechanisms of relapsed refractory multiple myeloma.

Nature Communications

Vo, Josh N JN; Wu, Yi-Mi YM; Mishler, Jeanmarie J; Hall, Sarah S; Mannan, Rahul R; Wang, Lisha L; Ning, Yu Y; Zhou, Jin J; Hopkins, Alexander C AC; Estill, James C JC; Chan, Wallace K B WKB; Yesil, Jennifer J; Cao, Xuhong X; Rao, Arvind A; Tsodikov, Alexander A; Talpaz, Moshe M; Cole, Craig E CE; Ye, Jing C JC; , ; Bergsagel, P Leif PL; Auclair, Daniel D; Cho, Hearn Jay HJ; Robinson, Dan R DR; Chinnaiyan, Arul M AM

Publication Date: 2022-06-29

Variant appearance in text: SMARCA4: 622C>T

PubMed Link: 35768438

Variant Present in the following documents:

• 41467_2022_31430_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing.

Haematologica

Künstner, Axel A; Witte, Hanno M HM; Riedl, Jörg J; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; Olschewski, Vito V; Peter, Wolfgang W; Ketzer, Julius J; Busch, Yannik Y; Trojok, Peter P; Bubnoff, Nikolas von NV; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N

Publication Date: 2022-08-01

Variant appearance in text: SMARCA4: R208W

PubMed Link: 34788985

Variant Present in the following documents:

• 2021_279631_KUNSTNER_TABS5_SUPPL.xlsx, sheet 1

View BVdb publication page

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Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Scientific Reports

Lee, Woo Seung WS; Lee, Junwon J; Choi, Jun Jeong JJ; Kang, Hyun Goo HG; Lee, Sung Chul SC; Kim, Ju Han JH

Publication Date: 2021-09-20

Variant appearance in text: SMARCA4: R208W

PubMed Link: 34545149

Variant Present in the following documents:

• 41598_2021_98084_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: SMARCA4: 622C>T; R208W; rs748298484

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: SMARCA4: R208W

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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Comparative genomic analysis of primary tumors and metastases in breast cancer.

Oncotarget

Bertucci, François F; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Garnier, Séverine S; Carbuccia, Nadine N; Monneur, Audrey A; Charafe-Jauffret, Emmanuelle E; Goncalves, Anthony A; Viens, Patrice P; Birnbaum, Daniel D; Chaffanet, Max M

Publication Date: 2016-05-10

Variant appearance in text: SMARCA4: R208W

PubMed Link: 27028851

Variant Present in the following documents:

• oncotarget-07-27208-s001.pdf

View BVdb publication page

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