Publications:

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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: BARD1: 1217G>A; R406Q

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.

Genes

Watters, Andrea K AK; Seltzer, Emily S ES; MacKenzie, Danny D; Young, Melody M; Muratori, Jonathan J; Hussein, Rama R; Sodoma, Andrej M AM; To, Julie J; Singh, Manrose M; Zhang, Dong D

Publication Date: 2020-07-21

Variant appearance in text: BARD1: 1217G>A; Arg406Gln; rs587780014

PubMed Link: 32708251

Variant Present in the following documents:

• Main text
• genes-11-00829-s001.pdf
• genes-11-00829.pdf

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Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging

Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N

Publication Date: 2020-02-24

Variant appearance in text: BARD1: 1217G>A; R406Q; rs587780014

PubMed Link: 32091409

Variant Present in the following documents:

• aging-12-102783-s001..xlsx, sheet 1

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Functional analysis of clinical BARD1 germline variants.

Cold Spring Harbor Molecular Case Studies

Toh, Ming Ren MR; Chong, Siao Ting ST; Chan, Sock Hoai SH; Low, Chen Ee CE; Ishak, Nur Diana Binte NDB; Lim, Jing Quan JQ; Courtney, Eliza E; Ngeow, Joanne J

Publication Date: 2019-08

Variant appearance in text: BARD1: 1217G>A; Arg406Gln; rs587780014

PubMed Link: 31371347

Variant Present in the following documents:

• Main text
• MCS004093Toh.pdf

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Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Cancer Medicine

Wang, Jiayu J; Li, Weiwei W; Shi, Yujian Y; Huang, Yan Y; Sun, Tao T; Tang, Lili L; Lu, Qing Q; Lei, Qiumo Q; Liao, Ning N; Jin, Feng F; Li, Hui H; Huang, Tao T; Qian, Jun J; Pang, Danmei D; Wang, Shusen S; Fan, Peizhi P; Wu, Xinhong X; Lin, Ying Y; Qin, Haiyan H; Xu, Binghe B

Publication Date: 2019-05

Variant appearance in text: BARD1: 1217G>A; Arg406Gln

PubMed Link: 30982232

Variant Present in the following documents:

• CAM4-8-2074-s004.xlsx, sheet 1

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Dualistic Role of BARD1 in Cancer.

Genes

Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M

Publication Date: 2017-12-08

Variant appearance in text: BARD1: R406Q; rs587780014

PubMed Link: 29292755

Variant Present in the following documents:

• Main text
• genes-08-00375.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BARD1: 1217G>A; Arg406Gln

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.

Human Mutation

Lee, Cindy C; Banerjee, Tapahsama T; Gillespie, Jessica J; Ceravolo, Amanda A; Parvinsmith, Matthew R MR; Starita, Lea M LM; Fields, Stanley S; Toland, Amanda E AE; Parvin, Jeffrey D JD

Publication Date: 2015-12

Variant appearance in text: BARD1: R406Q

PubMed Link: 26350354

Variant Present in the following documents:

• Main text

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: BARD1: R406Q

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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