Publications:

Frequency of Pathogenic Germline Mutations in Early and Late Onset Familial Breast Cancer Patients Using Multi-Gene Panel Sequencing: An Egyptian Study.

Genes

Nassar, Auhood A; Zekri, Abdel-Rahman N AN; Kamel, Mahmoud M MM; Elberry, Mostafa H MH; Lotfy, Mai M MM; Seadawy, Mohamed G MG; Hassan, Zeinab K ZK; Soliman, Hany K HK; Lymona, Ahmed M AM; Youssef, Amira Salah El-Din ASE

Publication Date: 2022-12-29

Variant appearance in text: rs2229022

PubMed Link: 36672847

Variant Present in the following documents:

• genes-14-00106.pdf

View BVdb publication page

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: 2494C>G; Arg832Gly

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Patterns and functional implications of rare germline variants across 12 cancer types.

Nature Communications

Lu, Charles C; Xie, Mingchao M; Wendl, Michael C MC; Wang, Jiayin J; McLellan, Michael D MD; Leiserson, Mark D M MD; Huang, Kuan-Lin KL; Wyczalkowski, Matthew A MA; Jayasinghe, Reyka R; Banerjee, Tapahsama T; Ning, Jie J; Tripathi, Piyush P; Zhang, Qunyuan Q; Niu, Beifang B; Ye, Kai K; Schmidt, Heather K HK; Fulton, Robert S RS; McMichael, Joshua F JF; Batra, Prag P; Kandoth, Cyriac C; Bharadwaj, Maheetha M; Koboldt, Daniel C DC; Miller, Christopher A CA; Kanchi, Krishna L KL; Eldred, James M JM; Larson, David E DE; Welch, John S JS; You, Ming M; Ozenberger, Bradley A BA; Govindan, Ramaswamy R; Walter, Matthew J MJ; Ellis, Matthew J MJ; Mardis, Elaine R ER; Graubert, Timothy A TA; Dipersio, John F JF; Ley, Timothy J TJ; Wilson, Richard K RK; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Chen, Feng F; Johnson, Kimberly J KJ; Parvin, Jeffrey D JD; Ding, Li L

Publication Date: 2015-12-22

Variant appearance in text: ATM: R832G

PubMed Link: 26689913

Variant Present in the following documents:

• ncomms10086-s13.xlsx, sheet 1

View BVdb publication page