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: rs138089183

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: rs138089183

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Comprehensive germline-genomic and clinical profiling in 160 unselected children and adolescents with cancer.

European Journal Of Human Genetics : Ejhg

Wagener, Rabea R; Taeubner, Julia J; Walter, Carolin C; Yasin, Layal L; Alzoubi, Deya D; Bartenhagen, Christoph C; Attarbaschi, Andishe A; Classen, Carl-Friedrich CF; Kontny, Udo U; Hauer, Julia J; Fischer, Ute U; Dugas, Martin M; Kuhlen, Michaela M; Borkhardt, Arndt A; Brozou, Triantafyllia T

Publication Date: 2021-08

Variant appearance in text: rs138089183

PubMed Link: 33840814

Variant Present in the following documents:

• 41431_2021_878_MOESM2_ESM.xlsx, sheet 3

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: rs138089183

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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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: rs138089183

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Bmc Cancer

Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Apessos, Angela A; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Diamantopoulos, Nikolaos N; Floros, Theofanis T; Iosifidou, Rodoniki R; Katopodi, Ourania O; Koumarianou, Anna A; Markopoulos, Christos C; Papazisis, Konstantinos K; Venizelos, Vasileios V; Xanthakis, Ioannis I; Xepapadakis, Grigorios G; Banu, Eugeniu E; Eniu, Dan Tudor DT; Negru, Serban S; Stanculeanu, Dana Lucia DL; Ungureanu, Andrei A; Ozmen, Vahit V; Tansan, Sualp S; Tekinel, Mehmet M; Yalcin, Suayib S; Nasioulas, George G

Publication Date: 2019-06-03

Variant appearance in text: rs138089183

PubMed Link: 31159747

Variant Present in the following documents:

• 12885_2019_5756_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.

Genome Medicine

Kim, Jung J; Luo, Wen W; Wang, Mingyi M; Wegman-Ostrosky, Talia T; Frone, Megan N MN; Johnston, Jennifer J JJ; Nickerson, Michael L ML; Rotunno, Melissa M; Li, Shengchao A SA; Achatz, Maria I MI; Brodie, Seth A SA; Dean, Michael M; de Andrade, Kelvin C KC; Fortes, Fernanda P FP; Gianferante, Matthew M; Khincha, Payal P; McMaster, Mary L ML; McReynolds, Lisa J LJ; Pemov, Alexander A; Pinheiro, Maisa M; Santiago, Karina M KM; Alter, Blanche P BP; Caporaso, Neil E NE; Gadalla, Shahinaz M SM; Goldin, Lynn R LR; Greene, Mark H MH; Loud, Jennifer J; Yang, Xiaohong R XR; Freedman, Neal D ND; Gapstur, Susan M SM; Gaudet, Mia M MM; Calista, Donato D; Ghiorzo, Paola P; Fargnoli, Maria Concetta MC; Nagore, Eduardo E; Peris, Ketty K; Puig, Susana S; Landi, Maria Teresa MT; Hicks, Belynda B; Zhu, Bin B; Liu, Jia J; Sampson, Joshua N JN; Chanock, Stephen J SJ; Mirabello, Lisa J LJ; Morton, Lindsay M LM; Biesecker, Leslie G LG; Tucker, Margaret A MA; Savage, Sharon A SA; Goldstein, Alisa M AM; Stewart, Douglas R DR

Publication Date: 2018-12-24

Variant appearance in text: rs138089183

PubMed Link: 30583724

Variant Present in the following documents:

• 13073_2018_607_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: MUTYH: R281C

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: rs138089183

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 4

View BVdb publication page

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The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget

Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM

Publication Date: 2018-01-30

Variant appearance in text: rs138089183

PubMed Link: 29487696

Variant Present in the following documents:

• oncotarget-09-7844-s003.xlsx, sheet 1

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Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.

Neuromuscular Disorders : Nmd

Bacalhau, Mafalda M; Simões, Marta M; Rocha, Mariana C MC; Hardy, Steven A SA; Vincent, Amy E AE; Durães, João J; Macário, Maria C MC; Santos, Maria João MJ; Rebelo, Olinda O; Lopes, Carla C; Pratas, João J; Mendes, Cândida C; Zuzarte, Mónica M; Rego, A Cristina AC; Girão, Henrique H; Wong, Lee-Jun C LC; Taylor, Robert W RW; Grazina, Manuela M

Publication Date: 2018-04

Variant appearance in text: rs138089183

PubMed Link: 29398297

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Oncotarget

Raskin, Leon L; Guo, Yan Y; Du, Liping L; Clendenning, Mark M; Rosty, Christophe C; , ; Lindor, Noralane M NM; Gruber, Stephen B SB; Buchanan, Daniel D DD

Publication Date: 2017-11-07

Variant appearance in text: rs138089183

PubMed Link: 29212164

Variant Present in the following documents:

• oncotarget-08-93450-s002.xlsx, sheet 1

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: rs138089183

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

View BVdb publication page

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Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

Familial Cancer

Rohlin, Anna A; Rambech, Eva E; Kvist, Anders A; Törngren, Therese T; Eiengård, Frida F; Lundstam, Ulf U; Zagoras, Theofanis T; Gebre-Medhin, Samuel S; Borg, Åke Å; Björk, Jan J; Nilbert, Mef M; Nordling, Margareta M

Publication Date: 2017-04

Variant appearance in text: rs138089183

PubMed Link: 27696107

Variant Present in the following documents:

• Main text
• 10689_2016_Article_9934.pdf

View BVdb publication page

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Genetic risk factors in two Utah pedigrees at high risk for suicide.

Translational Psychiatry

Coon, H H; Darlington, T T; Pimentel, R R; Smith, K R KR; Huff, C D CD; Hu, H H; Jerominski, L L; Hansen, J J; Klein, M M; Callor, W B WB; Byrd, J J; Bakian, A A; Crowell, S E SE; McMahon, W M WM; Rajamanickam, V V; Camp, N J NJ; McGlade, E E; Yurgelun-Todd, D D; Grey, T T; Gray, D D

Publication Date: 2013-11-19

Variant appearance in text: rs138089183

PubMed Link: 24252905

Variant Present in the following documents:

• Main text
• tp2013100a.pdf

View BVdb publication page

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Adenine DNA glycosylase activity of 14 human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer.

Human Mutation

Goto, Masanori M; Shinmura, Kazuya K; Nakabeppu, Yusaku Y; Tao, Hong H; Yamada, Hidetaka H; Tsuneyoshi, Toshihiro T; Sugimura, Haruhiko H

Publication Date: 2010-11

Variant appearance in text: MUTYH: 841C>T

PubMed Link: 20848659

Variant Present in the following documents:

• Main text
• humu0031-E1861.pdf

View BVdb publication page

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