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: RAD50: 671G>A; R224H; rs28903088

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

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: RAD50: R224H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Hereditary Cancer In Clinical Practice

Henn, Jonas J; Spier, Isabel I; Adam, Ronja S RS; Holzapfel, Stefanie S; Uhlhaas, Siegfried S; Kayser, Katrin K; Plotz, Guido G; Peters, Sophia S; Aretz, Stefan S

Publication Date: 2019

Variant appearance in text: RAD50: 671G>A; Arg224His

PubMed Link: 30680046

Variant Present in the following documents:

• 13053_2018_102_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: RAD50: 671G>A; Arg224His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.

Breast Cancer Research : Bcr

Melloni, Giorgio E M GEM; Mazzarella, Luca L; Bernard, Loris L; Bodini, Margherita M; Russo, Anna A; Luzi, Lucilla L; Pelicci, Pier Giuseppe PG; Riva, Laura L

Publication Date: 2017-05-31

Variant appearance in text: RAD50: R224H; rs28903088

PubMed Link: 28569218

Variant Present in the following documents:

• 13058_2017_854_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Multigene testing of moderate-risk genes: be mindful of the missense.

Journal Of Medical Genetics

Young, E L EL; Feng, B J BJ; Stark, A W AW; Damiola, F F; Durand, G G; Forey, N N; Francy, T C TC; Gammon, A A; Kohlmann, W K WK; Kaphingst, K A KA; McKay-Chopin, S S; Nguyen-Dumont, T T; Oliver, J J; Paquette, A M AM; Pertesi, M M; Robinot, N N; Rosenthal, J S JS; Vallee, M M; Voegele, C C; Hopper, J L JL; Southey, M C MC; Andrulis, I L IL; John, E M EM; Hashibe, M M; Gertz, J J; , ; Le Calvez-Kelm, F F; Lesueur, F F; Goldgar, D E DE; Tavtigian, S V SV

Publication Date: 2016-06

Variant appearance in text: RAD50: 671G>A; R224H

PubMed Link: 26787654

Variant Present in the following documents:

• jmedgenet-2015-103398-s2.pdf

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: rs28903088

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Genetic determinants of anti-malarial acquired immunity in a large multi-centre study.

Malaria Journal

Shelton, Jennifer M G JM; Corran, Patrick P; Risley, Paul P; Silva, Nilupa N; Hubbart, Christina C; Jeffreys, Anna A; Rowlands, Kate K; Craik, Rachel R; Cornelius, Victoria V; Hensmann, Meike M; Molloy, Sile S; Sepulveda, Nuno N; Clark, Taane G TG; Band, Gavin G; Clarke, Geraldine M GM; Spencer, Christopher C A CC; Kerasidou, Angeliki A; Campino, Susana S; Auburn, Sarah S; Tall, Adama A; Ly, Alioune Badara AB; Mercereau-Puijalon, Odile O; Sakuntabhai, Anavaj A; Djimdé, Abdoulaye A; Maiga, Boubacar B; Touré, Ousmane O; Doumbo, Ogobara K OK; Dolo, Amagana A; Troye-Blomberg, Marita M; Mangano, Valentina D VD; Verra, Frederica F; Modiano, David D; Bougouma, Edith E; Sirima, Sodiomon B SB; Ibrahim, Muntaser M; Hussain, Ayman A; Eid, Nahid N; Elzein, Abier A; Mohammed, Hiba H; Elhassan, Ahmed A; Elhassan, Ibrahim I; Williams, Thomas N TN; Ndila, Carolyne C; Macharia, Alexander A; Marsh, Kevin K; Manjurano, Alphaxard A; Reyburn, Hugh H; Lemnge, Martha M; Ishengoma, Deus D; Carter, Richard R; Karunaweera, Nadira N; Fernando, Deepika D; Dewasurendra, Rajika R; Drakeley, Christopher J CJ; Riley, Eleanor M EM; Kwiatkowski, Dominic P DP; Rockett, Kirk A KA; ,

Publication Date: 2015-08-28

Variant appearance in text: rs28903088

PubMed Link: 26314886

Variant Present in the following documents:

• Main text
• 12936_2015_Article_833.pdf

View BVdb publication page

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RAD50: R224H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer.

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

Maxwell, Kara N KN; Wubbenhorst, Bradley B; D'Andrea, Kurt K; Garman, Bradley B; Long, Jessica M JM; Powers, Jacquelyn J; Rathbun, Katherine K; Stopfer, Jill E JE; Zhu, Jiajun J; Bradbury, Angela R AR; Simon, Michael S MS; DeMichele, Angela A; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2015-08

Variant appearance in text: RAD50: R224H; rs28903088

PubMed Link: 25503501

Variant Present in the following documents:

• NIHMS641969-supplement-Supplementary_Table_1.xls, sheet 1

View BVdb publication page

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Germline variants in MRE11/RAD50/NBN complex genes in childhood leukemia.

Bmc Cancer

Mosor, Maria M; Ziółkowska-Suchanek, Iwona I; Nowicka, Karina K; Dzikiewicz-Krawczyk, Agnieszka A; Januszkiewicz-Lewandowska, Danuta D; Nowak, Jerzy J

Publication Date: 2013-10-05

Variant appearance in text: RAD50: R224H

PubMed Link: 24093751

Variant Present in the following documents:

• Main text
• 1471-2407-13-457.pdf

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: RAD50: R224H; rs28903088

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s008.xlsx, sheet 1

View BVdb publication page

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RAD50 and NBS1 are breast cancer susceptibility genes associated with genomic instability.

Carcinogenesis

Heikkinen, Katri K; Rapakko, Katrin K; Karppinen, Sanna-Maria SM; Erkko, Hannele H; Knuutila, Sakari S; Lundán, Tuija T; Mannermaa, Arto A; Børresen-Dale, Anne-Lise AL; Borg, Ake A; Barkardottir, Rosa B RB; Petrini, John J; Winqvist, Robert R

Publication Date: 2006-08

Variant appearance in text: RAD50: Arg224His

PubMed Link: 16474176

Variant Present in the following documents:

• Main text

View BVdb publication page

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