Publications:

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: MUTYH: 1174C>A; Leu392Met; rs144079536

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of 20 cholangiocarcinoma cases reveals unique profiles in patients with cirrhosis and primary sclerosing cholangitis.

Journal Of Gastrointestinal Oncology

Holzapfel, Nicholas N; Zhang, Amy A; Choi, Woo-Jin WJ; Denroche, Robert R; Jang, Gunho G; Dodd, Anna A; Bucur, Roxana R; Wilson, Julie J; Sapisochin, Gonzalo G; Notta, Faiyaz F; Grant, Robert C RC; Gallinger, Steven S; Knox, Jennifer J JJ; O'Kane, Grainne M GM

Publication Date: 2023-02-28

Variant appearance in text: rs144079536

PubMed Link: 36915452

Variant Present in the following documents:

• jgo-14-01-379-supplementary.pdf

View BVdb publication page

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Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation.

Cell Stem Cell

Merkle, Florian T FT; Ghosh, Sulagna S; Genovese, Giulio G; Handsaker, Robert E RE; Kashin, Seva S; Meyer, Daniel D; Karczewski, Konrad J KJ; O'Dushlaine, Colm C; Pato, Carlos C; Pato, Michele M; MacArthur, Daniel G DG; McCarroll, Steven A SA; Eggan, Kevin K

Publication Date: 2022-03-03

Variant appearance in text: rs144079536

PubMed Link: 35176222

Variant Present in the following documents:

• mmc5.xlsx, sheet 1
• mmc5.xlsx, sheet 3

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: MUTYH: L392M; rs144079536

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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: rs144079536

PubMed Link: 34253785

Variant Present in the following documents:

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

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: rs144079536

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: rs144079536

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: rs144079536

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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Tumor sequencing is useful to refine the analysis of germline variants in unexplained high-risk breast cancer families.

Breast Cancer Research : Bcr

Van Marcke, Cédric C; Helaers, Raphaël R; De Leener, Anne A; Merhi, Ahmad A; Schoonjans, Céline A CA; Ambroise, Jérôme J; Galant, Christine C; Delrée, Paul P; Rothé, Françoise F; Bar, Isabelle I; Khoury, Elsa E; Brouillard, Pascal P; Canon, Jean-Luc JL; Vuylsteke, Peter P; Machiels, Jean-Pascal JP; Berlière, Martine M; Limaye, Nisha N; Vikkula, Miikka M; Duhoux, François P FP

Publication Date: 2020-04-15

Variant appearance in text: rs144079536

PubMed Link: 32295625

Variant Present in the following documents:

• 13058_2020_1273_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.

Scientific Reports

Chirita-Emandi, Adela A; Andreescu, Nicoleta N; Zimbru, Cristian G CG; Tutac, Paul P; Arghirescu, Smaranda S; Serban, Margit M; Puiu, Maria M

Publication Date: 2020-01-14

Variant appearance in text: MUTYH: L392M; rs144079536

PubMed Link: 31937788

Variant Present in the following documents:

• 41598_2019_57080_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: MUTYH: L392M; rs144079536

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s002.xlsx, sheet 1

View BVdb publication page

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Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy.

Frontiers In Oncology

Rizzolo, Piera P; Silvestri, Valentina V; Bucalo, Agostino A; Zelli, Veronica V; Valentini, Virginia V; Catucci, Irene I; Zanna, Ines I; Masala, Giovanna G; Bianchi, Simonetta S; Spinelli, Alessandro Mauro AM; Tommasi, Stefania S; Tibiletti, Maria Grazia MG; Russo, Antonio A; Varesco, Liliana L; Coppa, Anna A; Calistri, Daniele D; Cortesi, Laura L; Viel, Alessandra A; Bonanni, Bernardo B; Azzollini, Jacopo J; Manoukian, Siranoush S; Montagna, Marco M; Radice, Paolo P; Palli, Domenico D; Peterlongo, Paolo P; Ottini, Laura L

Publication Date: 2018

Variant appearance in text: rs144079536

PubMed Link: 30564557

Variant Present in the following documents:

• Main text
• fonc-08-00583.pdf

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: L392M

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s009.xlsx, sheet 1
• 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: rs144079536

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 4

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: rs144079536

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

View BVdb publication page

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Next-generation sequencing in familial breast cancer patients from Lebanon.

Bmc Medical Genomics

Jalkh, Nadine N; Chouery, Eliane E; Haidar, Zahraa Z; Khater, Christina C; Atallah, David D; Ali, Hamad H; Marafie, Makia J MJ; Al-Mulla, Mohamed R MR; Al-Mulla, Fahd F; Megarbane, Andre A

Publication Date: 2017-02-15

Variant appearance in text: MUTYH: L392M

PubMed Link: 28202063

Variant Present in the following documents:

• Main text
• 12920_2017_Article_244.pdf

View BVdb publication page

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Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency.

Nature Communications

Kovac, Michal M; Blattmann, Claudia C; Ribi, Sebastian S; Smida, Jan J; Mueller, Nikola S NS; Engert, Florian F; Castro-Giner, Francesc F; Weischenfeldt, Joachim J; Kovacova, Monika M; Krieg, Andreas A; Andreou, Dimosthenis D; Tunn, Per-Ulf PU; Dürr, Hans Roland HR; Rechl, Hans H; Schaser, Klaus-Dieter KD; Melcher, Ingo I; Burdach, Stefan S; Kulozik, Andreas A; Specht, Katja K; Heinimann, Karl K; Fulda, Simone S; Bielack, Stefan S; Jundt, Gernot G; Tomlinson, Ian I; Korbel, Jan O JO; Nathrath, Michaela M; Baumhoer, Daniel D

Publication Date: 2015-12-03

Variant appearance in text: rs144079536

PubMed Link: 26632267

Variant Present in the following documents:

• ncomms9940-s1.pdf

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: rs144079536

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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