Publications:

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Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics

Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB

Publication Date: 2023

Variant appearance in text: RAD50: T191I

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters

Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV

Publication Date: 2023-02

Variant appearance in text: RAD50: 572C>T; T191I

PubMed Link: 36644153

Variant Present in the following documents:

• Supplementary_Data5.xlsx, sheet 1

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: RAD50: 572C>T; T191I; rs2230017

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene

Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N

Publication Date: 2020-05

Variant appearance in text: RAD50: T191I; rs2230017

PubMed Link: 32300177

Variant Present in the following documents:

• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: RAD50: 572C>T; T191I; rs2230017

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: RAD50: 572C>T; Thr191Ile

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

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Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways.

Journal Of The Endocrine Society

Clarke, Callisia N CN; Katsonis, Panagiotis P; Hsu, Teng-Kuei TK; Koire, Amanda M AM; Silva-Figueroa, Angelica A; Christakis, Ioannis I; Williams, Michelle D MD; Kutahyalioglu, Merve M; Kwatampora, Lily L; Xi, Yuanxin Y; Lee, Jeffrey E JE; Koptez, E Scott ES; Busaidy, Naifa L NL; Perrier, Nancy D ND; Lichtarge, Olivier O

Publication Date: 2019-03-01

Variant appearance in text: RAD50: T191I

PubMed Link: 30788456

Variant Present in the following documents:

• Main text
• js.2018-00043.pdf

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: RAD50: 572C>T; Thr191Ile; rs2230017

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 10

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: 572C>T; Thr191Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: 572C>T; T191I

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: rs2230017

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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: T191I

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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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: RAD50: T191I; rs2230017

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 31

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: T191I; rs2230017

PubMed Link: 23555315

Variant Present in the following documents:

• Main text
• pgen.1003419.s008.xlsx, sheet 1
• pgen.1003419.pdf

View BVdb publication page

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Modification of ovarian cancer risk by BRCA1/2-interacting genes in a multicenter cohort of BRCA1/2 mutation carriers.

Cancer Research

Rebbeck, Timothy R TR; Mitra, Nandita N; Domchek, Susan M SM; Wan, Fei F; Chuai, Shannon S; Friebel, Tara M TM; Panossian, Saarene S; Spurdle, Amanda A; Chenevix-Trench, Georgia G; , ; Singer, Christian F CF; Pfeiler, Georg G; Neuhausen, Susan L SL; Lynch, Henry T HT; Garber, Judy E JE; Weitzel, Jeffrey N JN; Isaacs, Claudine C; Couch, Fergus F; Narod, Steven A SA; Rubinstein, Wendy S WS; Tomlinson, Gail E GE; Ganz, Patricia A PA; Olopade, Olufunmilayo I OI; Tung, Nadine N; Blum, Joanne L JL; Greenberg, Roger R; Nathanson, Katherine L KL; Daly, Mary B MB

Publication Date: 2009-07-15

Variant appearance in text: RAD50: T191I

PubMed Link: 19584272

Variant Present in the following documents:

• Main text

View BVdb publication page

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