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: BARD1: 1921C>T; R641*; rs587781948

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

View BVdb publication page

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: BARD1: 1921C>T; Arg641Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Germline pathogenic variants in 786 neuroblastoma patients.

Medrxiv : The Preprint Server For Health Sciences

Kim, Jung J; Vaksman, Zalman Z; Egolf, Laura E LE; Kaufman, Rebecca R; Evans, J Perry JP; Conkrite, Karina L KL; Danesh, Arnavaz A; Lopez, Gonzalo G; Randall, Michael P MP; Dent, Maiah H MH; Farra, Lance M LM; Menghani, Neil N; Dymek, Malwina M; Desai, Heena H; Hausler, Ryan R; , ; , ; , ; Auvil, Jaime Guidry JG; Gerhard, Daniela S DS; Hakonarson, Hakon H; Maxwell, Kara N KN; Cole, Kristina A KA; Pugh, Trevor J TJ; Bosse, Kristopher R KR; Khan, Javed J; Wei, Jun S JS; Maris, John M JM; Stewart, Douglas R DR; Diskin, Sharon J SJ

Publication Date: 2023-01-25

Variant appearance in text: BARD1: 1921C>T; R641X; rs587781948

PubMed Link: 36747619

Variant Present in the following documents:

• media-1.pdf
• media-2.xlsx, sheet 3
• nihpp-2023.01.23.23284864v1.pdf

View BVdb publication page

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Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Ebiomedicine

Bonfiglio, Ferdinando F; Lasorsa, Vito Alessandro VA; Cantalupo, Sueva S; D'Alterio, Giuseppe G; Aievola, Vincenzo V; Boccia, Angelo A; Ardito, Martina M; Furini, Simone S; Renieri, Alessandra A; Morini, Martina M; Stainczyk, Sabine S; Westermann, Frank F; Paolella, Giovanni G; Eva, Alessandra A; Iolascon, Achille A; Capasso, Mario M

Publication Date: 2022-12-06

Variant appearance in text: BARD1: 1921C>T; Arg641Ter

PubMed Link: 36493725

Variant Present in the following documents:

• mmc1.xlsx, sheet 8

View BVdb publication page

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: BARD1: R641X

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Life Science Alliance

Qin, Zixin Z; Huang, Teng T; Guo, Maoni M; Wang, San Ming SM

Publication Date: 2022-09

Variant appearance in text: BARD1: 1921C>T; Arg641Ter; rs587781948

PubMed Link: 35595529

Variant Present in the following documents:

• LSA-2021-01319_TableS1.xlsx, sheet 1
• LSA-2021-01319_TableS3.xlsx, sheet 4

View BVdb publication page

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Mutational spectrum of breast cancer susceptibility genes among women ascertained in a cancer risk clinic in Northeast Brazil.

Breast Cancer Research And Treatment

Felix, Gabriela E S GES; Guindalini, Rodrigo Santa Cruz RSC; Zheng, Yonglan Y; Walsh, Tom T; Sveen, Elisabeth E; Lopes, Taisa Manuela Machado TMM; Côrtes, Juliana J; Zhang, Jing J; Carôzo, Polyanna P; Santos, Irlânia I; Bonfim, Thaís Ferreira TF; Garicochea, Bernardo B; Toralles, Maria Betânia Pereira MBP; Meyer, Roberto R; Netto, Eduardo Martins EM; Abe-Sandes, Kiyoko K; King, Mary-Claire MC; de Oliveira Nascimento, Ivana Lucia IL; Olopade, Olufunmilayo I OI

Publication Date: 2022-06

Variant appearance in text: BARD1: 1921C>T

PubMed Link: 35353237

Variant Present in the following documents:

• Main text
• 10549_2022_Article_6560.pdf

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-12

Variant appearance in text: BARD1: R641X

PubMed Link: 34839264

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-11-25

Variant appearance in text: BARD1: R641X

PubMed Link: 34839264

Variant Present in the following documents:

• mmc6.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: BARD1: 1921C>T; Arg641Ter; rs587781948

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7

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: BARD1: R641X

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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BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.

Genes

Rofes, Paula P; Del Valle, Jesús J; Torres-Esquius, Sara S; Feliubadaló, Lídia L; Stradella, Agostina A; Moreno-Cabrera, José Marcos JM; López-Doriga, Adriana A; Munté, Elisabet E; De Cid, Rafael R; Campos, Olga O; Cuesta, Raquel R; Teulé, Álex Á; Grau, Èlia È; Sanz, Judit J; Capellá, Gabriel G; Díez, Orland O; Brunet, Joan J; Balmaña, Judith J; Lázaro, Conxi C

Publication Date: 2021-01-23

Variant appearance in text: BARD1: 1921C>T; Arg641*

PubMed Link: 33498765

Variant Present in the following documents:

• Main text
• genes-12-00150.pdf

View BVdb publication page

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The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers.

Genes

Watters, Andrea K AK; Seltzer, Emily S ES; MacKenzie, Danny D; Young, Melody M; Muratori, Jonathan J; Hussein, Rama R; Sodoma, Andrej M AM; To, Julie J; Singh, Manrose M; Zhang, Dong D

Publication Date: 2020-07-21

Variant appearance in text: BARD1: 1921C>T; Arg641X; rs587781948

PubMed Link: 32708251

Variant Present in the following documents:

• Main text
• genes-11-00829.pdf
• genes-11-00829-s001.pdf

View BVdb publication page

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Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations.

Genes

Suszynska, Malwina M; Kozlowski, Piotr P

Publication Date: 2020-07-15

Variant appearance in text: BARD1: 1921C>T; R641*

PubMed Link: 32679805

Variant Present in the following documents:

• Main text

View BVdb publication page

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Prevalence of disease-causing genes in Japanese patients with BRCA1/2-wildtype hereditary breast and ovarian cancer syndrome.

Npj Breast Cancer

Kaneyasu, Tomoko T; Mori, Seiichi S; Yamauchi, Hideko H; Ohsumi, Shozo S; Ohno, Shinji S; Aoki, Daisuke D; Baba, Shinichi S; Kawano, Junko J; Miki, Yoshio Y; Matsumoto, Naomichi N; Nagasaki, Masao M; Yoshida, Reiko R; Akashi-Tanaka, Sadako S; Iwase, Takuji T; Kitagawa, Dai D; Masuda, Kenta K; Hirasawa, Akira A; Arai, Masami M; Takei, Junko J; Ide, Yoshimi Y; Gotoh, Osamu O; Yaguchi, Noriko N; Nishi, Mitsuyo M; Kaneko, Keika K; Matsuyama, Yumi Y; Okawa, Megumi M; Suzuki, Misato M; Nezu, Aya A; Yokoyama, Shiro S; Amino, Sayuri S; Inuzuka, Mayuko M; Noda, Tetsuo T; Nakamura, Seigo S

Publication Date: 2020

Variant appearance in text: BARD1: R641*

PubMed Link: 32566746

Variant Present in the following documents:

• Main text
• 41523_2020_163_MOESM1_ESM.pdf
• 41523_2020_Article_163.pdf

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: BARD1: 1921C>T; Arg641*; rs587781948

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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Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Genes

Urbina-Jara, Laura Keren LK; Rojas-Martinez, Augusto A; Martinez-Ledesma, Emmanuel E; Aguilar, Dione D; Villarreal-Garza, Cynthia C; Ortiz-Lopez, Rocio R

Publication Date: 2019-10-10

Variant appearance in text: BARD1: 1921C>T; rs587781948

PubMed Link: 31658756

Variant Present in the following documents:

• Main text
• genes-10-00786.pdf

View BVdb publication page

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Functional analysis of clinical BARD1 germline variants.

Cold Spring Harbor Molecular Case Studies

Toh, Ming Ren MR; Chong, Siao Ting ST; Chan, Sock Hoai SH; Low, Chen Ee CE; Ishak, Nur Diana Binte NDB; Lim, Jing Quan JQ; Courtney, Eliza E; Ngeow, Joanne J

Publication Date: 2019-08

Variant appearance in text: BARD1: 1921C>T

PubMed Link: 31371347

Variant Present in the following documents:

• Main text
• MCS004093Toh.pdf

View BVdb publication page

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BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation.

Cancers

Suszynska, Malwina M; Kluzniak, Wojciech W; Wokolorczyk, Dominika D; Jakubowska, Anna A; Huzarski, Tomasz T; Gronwald, Jacek J; Debniak, Tadeusz T; Szwiec, Marek M; Ratajska, Magdalena M; Klonowska, Katarzyna K; Narod, Steven S; Bogdanova, Natalia N; Dörk, Thilo T; Lubinski, Jan J; Cybulski, Cezary C; Kozlowski, Piotr P

Publication Date: 2019-05-28

Variant appearance in text: BARD1: 1921C>T

PubMed Link: 31142030

Variant Present in the following documents:

• cancers-11-00740.pdf

View BVdb publication page

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Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.

Bmc Cancer

Shahi, Rajendra Bahadur RB; De Brakeleer, Sylvia S; Caljon, Ben B; Pauwels, Ingrid I; Bonduelle, Maryse M; Joris, Sofie S; Fontaine, Christel C; Vanhoeij, Marian M; Van Dooren, Sonia S; Teugels, Erik E; De Grève, Jacques J

Publication Date: 2019-04-04

Variant appearance in text: BARD1: 1921C>T

PubMed Link: 30947698

Variant Present in the following documents:

• Main text
• 12885_2019_5494_MOESM1_ESM.xlsx, sheet 1
• 12885_2019_Article_5494.pdf

View BVdb publication page

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Dualistic Role of BARD1 in Cancer.

Genes

Cimmino, Flora F; Formicola, Daniela D; Capasso, Mario M

Publication Date: 2017-12-08

Variant appearance in text: rs587781948

PubMed Link: 29292755

Variant Present in the following documents:

• Main text
• genes-08-00375.pdf

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: BARD1: 1921C>T; Arg641Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

Clinical Case Reports

Gass, Jennifer J; Tatro, Madeline M; Blackburn, Patrick P; Hines, Stephanie S; Atwal, Paldeep S PS

Publication Date: 2017-02

Variant appearance in text: BARD1: 1921C>T; Arg641Ter

PubMed Link: 28174632

Variant Present in the following documents:

• Main text

View BVdb publication page

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Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One

LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC

Publication Date: 2017

Variant appearance in text: BARD1: 1921C>T; R641*

PubMed Link: 28152038

Variant Present in the following documents:

• pone.0170843.s003.xlsx, sheet 1
• pone.0170843.s004.xlsx, sheet 1

View BVdb publication page

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Research progress of neuroblastoma related gene variations.

Oncotarget

Cao, Yanna Y; Jin, Yan Y; Yu, Jinpu J; Wang, Jingfu J; Yan, Jie J; Zhao, Qiang Q

Publication Date: 2017-03-14

Variant appearance in text: BARD1: 1921C>T

PubMed Link: 28055978

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: BARD1: Arg641*

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984.pdf

View BVdb publication page

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Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Oncotarget

Lasorsa, Vito Alessandro VA; Formicola, Daniela D; Pignataro, Piero P; Cimmino, Flora F; Calabrese, Francesco Maria FM; Mora, Jaume J; Esposito, Maria Rosaria MR; Pantile, Marcella M; Zanon, Carlo C; De Mariano, Marilena M; Longo, Luca L; Hogarty, Michael D MD; de Torres, Carmen C; Tonini, Gian Paolo GP; Iolascon, Achille A; Capasso, Mario M

Publication Date: 2016-04-19

Variant appearance in text: BARD1: Arg641*

PubMed Link: 27009842

Variant Present in the following documents:

• Main text
• oncotarget-07-21840-s008.xlsx, sheet 1
• oncotarget-07-21840.pdf

View BVdb publication page

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Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Hu, Chunling C; Hart, Steven N SN; Bamlet, William R WR; Moore, Raymond M RM; Nandakumar, Kannabiran K; Eckloff, Bruce W BW; Lee, Yean K YK; Petersen, Gloria M GM; McWilliams, Robert R RR; Couch, Fergus J FJ

Publication Date: 2016-01

Variant appearance in text: BARD1: 1921C>T; Arg641X

PubMed Link: 26483394

Variant Present in the following documents:

• Main text

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: BARD1: 1921C>T; Arg641*

PubMed Link: 23334666

Variant Present in the following documents:

• Main text
• nihms-474900.pdf
• NIHMS474900-supplement-9.xlsx, sheet 2

View BVdb publication page

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