Publications:

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High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Nature Communications

Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V

Publication Date: 2022-09-07

Variant appearance in text: RAD54L: 604C>T; R202C

PubMed Link: 36071033

Variant Present in the following documents:

• 41467_2022_32828_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Rare coding variants in DNA damage repair genes associated with timing of natural menopause.

Hgg Advances

Ward, Lucas D LD; Parker, Margaret M MM; Deaton, Aimee M AM; Tu, Ho-Chou HC; Flynn-Carroll, Alexander O AO; Hinkle, Gregory G; Nioi, Paul P

Publication Date: 2022-04-14

Variant appearance in text: RAD54L: Arg202Cys; rs28363218

PubMed Link: 35493704

Variant Present in the following documents:

• Main text
• mmc3.pdf
• main.pdf
• mmc1.pdf
• mmc2.xlsx, sheet 7

View BVdb publication page

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Germline mutation landscape of DNA damage repair genes in African Americans with prostate cancer highlights potentially targetable RAD genes.

Nature Communications

Kohaar, Indu I; Zhang, Xijun X; Tan, Shyh-Han SH; Nousome, Darryl D; Babcock, Kevin K; Ravindranath, Lakshmi L; Sukumar, Gauthaman G; Mcgrath-Martinez, Elisa E; Rosenberger, John J; Alba, Camille C; Ali, Amina A; Young, Denise D; Chen, Yongmei Y; Cullen, Jennifer J; Rosner, Inger L IL; Sesterhenn, Isabell A IA; Dobi, Albert A; Chesnut, Gregory G; Turner, Clesson C; Dalgard, Clifton C; Wilkerson, Matthew D MD; Pollard, Harvey B HB; Srivastava, Shiv S; Petrovics, Gyorgy G

Publication Date: 2022-03-15

Variant appearance in text: RAD54L: R202C

PubMed Link: 35292633

Variant Present in the following documents:

• 41467_2022_28945_MOESM6_ESM.xls, sheet 1
• 41467_2022_28945_MOESM5_ESM.xls, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: RAD54L: R202C; rs28363218

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.

Frontiers In Endocrinology

Rossetti, Raffaella R; Moleri, Silvia S; Guizzardi, Fabiana F; Gentilini, Davide D; Libera, Laura L; Marozzi, Anna A; Moretti, Costanzo C; Brancati, Francesco F; Bonomi, Marco M; Persani, Luca L

Publication Date: 2021

Variant appearance in text: RAD54L: 604C>T; Arg202Cys

PubMed Link: 34803902

Variant Present in the following documents:

• Main text
• fendo-12-664645.pdf

View BVdb publication page

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Sequencing for germline mutations in Swedish breast cancer families reveals novel breast cancer risk genes.

Scientific Reports

Helgadottir, Hafdis T HT; Thutkawkorapin, Jessada J; Lagerstedt-Robinson, Kristina K; Lindblom, Annika A

Publication Date: 2021-07-19

Variant appearance in text: RAD54L: R202C; rs28363218

PubMed Link: 34282249

Variant Present in the following documents:

• Main text
• 41598_2021_94316_MOESM1_ESM.xlsx, sheet 2
• 41598_2021_Article_94316.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: RAD54L: R202C; rs28363218

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: RAD54L: R202C

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Human Mutation

Felicio, Paula S PS; Grasel, Rebeca S RS; Campacci, Natalia N; de Paula, Andre E AE; Galvão, Henrique C R HCR; Torrezan, Giovana T GT; Sabato, Cristina S CS; Fernandes, Gabriela C GC; Souza, Cristiano P CP; Michelli, Rodrigo D RD; Andrade, Carlos E CE; Barros, Bruna Durães De Figueiredo BDF; Matsushita, Marcus M MM; Revil, Timothée T; Ragoussis, Jiannis J; Couch, Fergus J FJ; Hart, Steven N SN; Reis, Rui M RM; Melendez, Matias E ME; Tonin, Patricia N PN; Carraro, Dirce M DM; Palmero, Edenir I EI

Publication Date: 2021-03

Variant appearance in text: RAD54L: 604C>T

PubMed Link: 33326660

Variant Present in the following documents:

• Main text
• HUMU-42-290.pdf
• HUMU-42-290-s006.xlsx, sheet 4

View BVdb publication page

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Whole-exome sequencing of non-BRCA1/BRCA2 mutation carrier cases at high-risk for hereditary breast/ovarian cancer.

Human Mutation

Felicio, Paula S PS; Grasel, Rebeca S RS; Campacci, Natalia N; de Paula, Andre E AE; Galvão, Henrique C R HCR; Torrezan, Giovana T GT; Sabato, Cristina S CS; Fernandes, Gabriela C GC; Souza, Cristiano P CP; Michelli, Rodrigo D RD; Andrade, Carlos E CE; Barros, Bruna Durães De Figueiredo BDF; Matsushita, Marcus M MM; Revil, Timothée T; Ragoussis, Jiannis J; Couch, Fergus J FJ; Hart, Steven N SN; Reis, Rui M RM; Melendez, Matias E ME; Tonin, Patricia N PN; Carraro, Dirce M DM; Palmero, Edenir I EI

Publication Date: 2021-03

Variant appearance in text: RAD54L: 604C>T

PubMed Link: 33326660

Variant Present in the following documents:

• Main text
• HUMU-42-290.pdf
• HUMU-42-290-s006.xlsx, sheet 4

View BVdb publication page

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Biphasic Hyalinizing Psammomatous Renal Cell Carcinoma (BHP RCC): A Distinctive Neoplasm Associated With Somatic NF2 Mutations.

The American Journal Of Surgical Pathology

Argani, Pedram P; Reuter, Victor E VE; Eble, John N JN; Vlatkovic, Ljiljana L; Yaskiv, Oksana O; Swanson, David D; Dickson, Brendan C BC; Antonescu, Cristina R CR; Matoso, Andres A; Gagan, Jeffrey J; Palsgrove, Doreen N DN

Publication Date: 2020-07

Variant appearance in text: RAD54L: Arg202Cys

PubMed Link: 32217839

Variant Present in the following documents:

• Main text

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: RAD54L: R202C

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 18

View BVdb publication page

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MCM8 and MCM9 Nucleotide Variants in Women With Primary Ovarian Insufficiency.

The Journal Of Clinical Endocrinology And Metabolism

Desai, Swapna S; Wood-Trageser, Michelle M; Matic, Jelena J; Chipkin, Jaqueline J; Jiang, Huaiyang H; Bachelot, Anne A; Dulon, Jerome J; Sala, Cinzia C; Barbieri, Caterina C; Cocca, Massimiliano M; Toniolo, Daniela D; Touraine, Philippe P; Witchel, Selma S; Rajkovic, Aleksandar A

Publication Date: 2017-02-01

Variant appearance in text: RAD54L: Arg202Cys

PubMed Link: 27802094

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry

Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE

Publication Date: 2016-12

Variant appearance in text: RAD54L: R202C; rs28363218

PubMed Link: 27001614

Variant Present in the following documents:

• NIHMS753666-supplement-2.xlsx, sheet 11
• NIHMS753666-supplement-2.xlsx, sheet 8

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: rs28363218

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: RAD54L: R202C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: RAD54L: R202C

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-7.xlsx, sheet 1

View BVdb publication page

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A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer.

Journal Of Medical Genetics

Pelttari, Liisa M LM; Kiiski, Johanna J; Nurminen, Riikka R; Kallioniemi, Anne A; Schleutker, Johanna J; Gylfe, Alexandra A; Aaltonen, Lauri A LA; Leminen, Arto A; Heikkilä, Päivi P; Blomqvist, Carl C; Bützow, Ralf R; Aittomäki, Kristiina K; Nevanlinna, Heli H

Publication Date: 2012-07

Variant appearance in text: rs28363218

PubMed Link: 22652533

Variant Present in the following documents:

• Main text

View BVdb publication page

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