Publications:

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Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India.

Ecancermedicalscience

Mittal, Abhenil A; Deo, S V S SVS; Gogia, Ajay A; Batra, Atul A; Kumar, Akash A; Bhoriwal, Sandeep S; Deb, Koushik Sinha KS; Dhamija, Ekta E; Ramprasad, V L VL; Olopade, Olufunmilayo O; Pramanik, Raja R

Publication Date: 2022

Variant appearance in text: ATM: 5633C>T; Ser1878Leu

PubMed Link: 36200007

Variant Present in the following documents:

• can-16-1434.pdf

View BVdb publication page

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Case Report: Targeted Therapy for Metastatic Solid Pseudopapillary Neoplasm of the Pancreas With CTNNB1 and PTEN Mutations.

Frontiers In Oncology

Wang, Xinbo X; Zhu, Daojun D; Bao, Wei W; Li, Min M; Wang, Sizhen S; Shen, Rongxi R

Publication Date: 2021

Variant appearance in text: ATM: 5633C>T; S1878L

PubMed Link: 34733780

Variant Present in the following documents:

• Main text
• fonc-11-729151.pdf

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: ATM: 5633C>T; S1878L; rs758908522

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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A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer

Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ

Publication Date: 2020-02

Variant appearance in text: ATM: 5633C>T; S1878L

PubMed Link: 31857723

Variant Present in the following documents:

• 41416_2019_686_MOESM1_ESM.xlsx, sheet 14

View BVdb publication page

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The functional landscape of the human phosphoproteome.

Nature Biotechnology

Ochoa, David D; Jarnuczak, Andrew F AF; Viéitez, Cristina C; Gehre, Maja M; Soucheray, Margaret M; Mateus, André A; Kleefeldt, Askar A AA; Hill, Anthony A; Garcia-Alonso, Luz L; Stein, Frank F; Krogan, Nevan J NJ; Savitski, Mikhail M MM; Swaney, Danielle L DL; Vizcaíno, Juan A JA; Noh, Kyung-Min KM; Beltrao, Pedro P

Publication Date: 2020-03

Variant appearance in text: ATM: 5633C>T; Ser1878Leu

PubMed Link: 31819260

Variant Present in the following documents:

• EMS84831-supplement-Table_S5.xlsx, sheet 1

View BVdb publication page

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Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis.

Human Mutation

Nguyen-Dumont, Tú T; Calvez-Kelm, Florence Le FL; Forey, Nathalie N; McKay-Chopin, Sandrine S; Garritano, Sonia S; Gioia-Patricola, Lydie L; De Silva, Deepika D; Weigel, Ron R; Sangrajrang, Suleeporn S; Lesueur, Fabienne F; Tavtigian, Sean V SV; , ; ,

Publication Date: 2009-06

Variant appearance in text: ATM: 5633C>T; Ser1878Leu

PubMed Link: 19347964

Variant Present in the following documents:

• Main text

View BVdb publication page

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