Publications:

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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: rs149342980

PubMed Link: 36672847

Variant Present in the following documents:

• genes-14-00106.pdf

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Association between germline pathogenic variants in cancer-predisposing genes and lymphoma risk.

Cancer Science

Usui, Yoshiaki Y; Iwasaki, Yusuke Y; Matsuo, Keitaro K; Endo, Mikiko M; Kamatani, Yoichiro Y; Hirata, Makoto M; Sugano, Kokichi K; Yoshida, Teruhiko T; Matsuda, Koichi K; Murakami, Yoshinori Y; Maeda, Yoshinobu Y; Nakagawa, Hidewaki H; Momozawa, Yukihide Y

Publication Date: 2022-11

Variant appearance in text: MUTYH: 848G>A

PubMed Link: 36065483

Variant Present in the following documents:

• CAS-113-3972-s007.pdf

View BVdb publication page

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Structural Insights into the Specificity of 8-Oxo-7,8-dihydro-2'-deoxyguanosine Bypass by Family X DNA Polymerases.

Genes

Kaminski, Andrea M AM; Kunkel, Thomas A TA; Pedersen, Lars C LC; Bebenek, Katarzyna K

Publication Date: 2021-12-22

Variant appearance in text: MUTYH: R283K

PubMed Link: 35052363

Variant Present in the following documents:

• Main text
• genes-13-00015.pdf

View BVdb publication page

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Structural Insights into the Specificity of 8-Oxo-7,8-dihydro-2'-deoxyguanosine Bypass by Family X DNA Polymerases.

Genes

Kaminski, Andrea M AM; Kunkel, Thomas A TA; Pedersen, Lars C LC; Bebenek, Katarzyna K

Publication Date: 2021-12-22

Variant appearance in text: MUTYH: R283K

PubMed Link: 35052363

Variant Present in the following documents:

• Main text
• genes-13-00015.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: rs149342980

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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PWAS: proteome-wide association study-linking genes and phenotypes by functional variation in proteins.

Genome Biology

Brandes, Nadav N; Linial, Nathan N; Linial, Michal M

Publication Date: 2020-07-14

Variant appearance in text: rs149342980

PubMed Link: 32665031

Variant Present in the following documents:

• 13059_2020_2089_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation spectrum of germline cancer susceptibility genes among unselected Chinese colorectal cancer patients.

Cancer Management And Research

Gong, Rui R; He, Yuan Y; Liu, Xiao-Yun XY; Wang, Hai-Yun HY; Sun, Li-Yue LY; Yang, Xin-Hua XH; Li, Bin B; Cao, Xin-Kai XK; Ye, Zu-Lu ZL; Kong, Ling-Heng LH; Zhang, Da-Dong DD; Li, Yu-Hong YH; Xu, Rui-Hua RH; Shao, Jian-Yong JY

Publication Date: 2019

Variant appearance in text: MUTYH: 848G>A; G283E

PubMed Link: 31118792

Variant Present in the following documents:

• Main text
• cmar-11-3721.pdf

View BVdb publication page

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: rs149342980

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Oxidized nucleotide insertion by pol β confounds ligation during base excision repair.

Nature Communications

Çağlayan, Melike M; Horton, Julie K JK; Dai, Da-Peng DP; Stefanick, Donna F DF; Wilson, Samuel H SH

Publication Date: 2017-01-09

Variant appearance in text: MYH: R283K

PubMed Link: 28067232

Variant Present in the following documents:

• ncomms14045.pdf

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DNA polymerase minor groove interactions modulate mutagenic bypass of a templating 8-oxoguanine lesion.

Nucleic Acids Research

Freudenthal, Bret D BD; Beard, William A WA; Wilson, Samuel H SH

Publication Date: 2013-02-01

Variant appearance in text: MYH: R283K

PubMed Link: 23267011

Variant Present in the following documents:

• Main text
• gks1276.pdf

View BVdb publication page

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Loop 1 modulates the fidelity of DNA polymerase lambda.

Nucleic Acids Research

Bebenek, Katarzyna K; Garcia-Diaz, Miguel M; Zhou, Rui-Zhe RZ; Povirk, Lawrence F LF; Kunkel, Thomas A TA

Publication Date: 2010-09

Variant appearance in text: MUTYH: R283K

PubMed Link: 20435673

Variant Present in the following documents:

• gkq261.pdf

View BVdb publication page

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