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: MSH6: 2633T>G; Val878Gly; rs2020912

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Journal Of Medical Genetics

Zhang, Li L; Qin, Zixin Z; Huang, Teng T; Tam, Benjamin B; Ruan, Yongsen Y; Guo, Maoni M; Wu, Xiaobing X; Li, Jiaheng J; Zhao, Bojin B; Chian, Jia Sheng JS; Wang, Xiaoyu X; Wang, Lei L; Wang, San Ming SM

Publication Date: 2022-07

Variant appearance in text: rs2020912

PubMed Link: 34172528

Variant Present in the following documents:

• jmedgenet-2021-107886supp003.xlsx, sheet 3

View BVdb publication page

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Gene- and pathway-level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility.

International Journal Of Cancer

Lonjou, Christine C; Eon-Marchais, Séverine S; Truong, Thérèse T; Dondon, Marie-Gabrielle MG; Karimi, Mojgan M; Jiao, Yue Y; Damiola, Francesca F; Barjhoux, Laure L; Le Gal, Dorothée D; Beauvallet, Juana J; Mebirouk, Noura N; Cavaciuti, Eve E; Chiesa, Jean J; Floquet, Anne A; Audebert-Bellanger, Séverine S; Giraud, Sophie S; Frebourg, Thierry T; Limacher, Jean-Marc JM; Gladieff, Laurence L; Mortemousque, Isabelle I; Dreyfus, Hélène H; Lejeune-Dumoulin, Sophie S; Lasset, Christine C; Venat-Bouvet, Laurence L; Bignon, Yves-Jean YJ; Pujol, Pascal P; Maugard, Christine M CM; Luporsi, Elisabeth E; Bonadona, Valérie V; Noguès, Catherine C; Berthet, Pascaline P; Delnatte, Capucine C; Gesta, Paul P; Lortholary, Alain A; Faivre, Laurence L; Buecher, Bruno B; Caron, Olivier O; Gauthier-Villars, Marion M; Coupier, Isabelle I; Mazoyer, Sylvie S; Monraz, Luis-Cristobal LC; Kondratova, Maria M; Kuperstein, Inna I; Guénel, Pascal P; Barillot, Emmanuel E; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F

Publication Date: 2021-04-15

Variant appearance in text: rs2020912

PubMed Link: 33368296

Variant Present in the following documents:

• Main text

View BVdb publication page

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Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics

da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA

Publication Date: 2020-02-10

Variant appearance in text: rs2020912

PubMed Link: 32039725

Variant Present in the following documents:

• Main text

View BVdb publication page

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Heterozygosity mapping for human dominant trait variants.

Human Mutation

Imai-Okazaki, Atsuko A; Li, Yi Y; Horpaopan, Sukanya S; Riazalhosseini, Yasser Y; Garshasbi, Masoud M; Mosse, Yael P YP; Zhang, Di D; Schrauwen, Isabelle I; Sharma, Aarushi A; Fann, Cathy S J CSJ; Leal, Suzanne M SM; Lathrop, Mark M; Ott, Jurg J

Publication Date: 2019-07

Variant appearance in text: rs2020912

PubMed Link: 31018026

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics

Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E

Publication Date: 2018-02-20

Variant appearance in text: rs2020912

PubMed Link: 29458332

Variant Present in the following documents:

• Main text

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: rs2020912

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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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs2020912

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs2020912

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.xlsx, sheet 1

View BVdb publication page

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Genome at juncture of early human migration: a systematic analysis of two whole genomes and thirteen exomes from Kuwaiti population subgroup of inferred Saudi Arabian tribe ancestry.

Plos One

Alsmadi, Osama O; John, Sumi E SE; Thareja, Gaurav G; Hebbar, Prashantha P; Antony, Dinu D; Behbehani, Kazem K; Thanaraj, Thangavel Alphonse TA

Publication Date: 2014

Variant appearance in text: rs2020912

PubMed Link: 24896259

Variant Present in the following documents:

• Main text
• pone.0099069.pdf

View BVdb publication page

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Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.

Breast Cancer Research : Bcr

Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA

Publication Date: 2013-12-10

Variant appearance in text: rs2020912

PubMed Link: 24326041

Variant Present in the following documents:

• bcr3584-S1.pdf

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PATH-SCAN: a reporting tool for identifying clinically actionable variants.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing

Daneshjou, Roxana R; Zappala, Zachary Z; Kukurba, Kim K; Boyle, Sean M SM; Ormond, Kelly E KE; Klein, Teri E TE; Snyder, Michael M; Bustamante, Carlos D CD; Altman, Russ B RB; Montgomery, Stephen B SB

Publication Date: 2014

Variant appearance in text: rs2020912

PubMed Link: 24297550

Variant Present in the following documents:

• Main text

View BVdb publication page

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