BARD1 c.1670G>C ;(p.C557S)

Variant ID: 2-215617178-C-G

NM_000465.2(BARD1):c.1670G>C;(p.C557S)

This variant was identified in 71 publications

View GRCh38 version.




Publications:


What Is Known about Breast Cancer in Young Women?

Cancers
Zhu, Jie Wei JW; Charkhchi, Parsa P; Adekunte, Shadia S; Akbari, Mohammad R MR
Publication Date: 2023-03-22

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 36980802
Variant Present in the following documents:
  • Main text
  • cancers-15-01917.pdf
View BVdb publication page



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: BARD1: C557S
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Cell Reports. Medicine
Álvarez-Prado, Ángel F ÁF; Maas, Roeltje R RR; Soukup, Klara K; Klemm, Florian F; Kornete, Mara M; Krebs, Fanny S FS; Zoete, Vincent V; Berezowska, Sabina S; Brouland, Jean-Philippe JP; Hottinger, Andreas F AF; Daniel, Roy T RT; Hegi, Monika E ME; Joyce, Johanna A JA
Publication Date: 2023-01-17

Variant appearance in text: BARD1: C557S
PubMed Link: 36652909
Variant Present in the following documents:
  • mmc4.xlsx, sheet 7
View BVdb publication page



Association of XRCC3 18067 C>T (Thr241Met) polymorphism with risk of cervical and ovarian cancers: A systematic review and meta-analysis.

Interventional Medicine & Applied Science
Karimi-Zarchi, Mojgan M; Moghimi, Mansour M; Abbasi, Hajar H; Hadadan, Amaneh A; Tabatabaei, Razieh-Sadat RS; Javaheri, Atiyeh A; Neamatzadeh, Hossein H
Publication Date: 2020-09

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 36343295
Variant Present in the following documents:
  • imas-11-172.pdf
View BVdb publication page



Mutations of 1p genes do not consistently abrogate tumor suppressor functions in 1p-intact neuroblastoma.

Bmc Cancer
Kuick, Chik Hong CH; Tan, Jia Ying JY; Jasmine, Deborah D; Sumanty, Tohari T; Ng, Alvin Y J AYJ; Venkatesh, Byrrappa B; Chen, Huiyi H; Loh, Eva E; Jain, Sudhanshi S; Seow, Wan Yi WY; Ng, Eileen H Q EHQ; Lian, Derrick W Q DWQ; Soh, Shui Yen SY; Chang, Kenneth T E KTE; Chen, Zhi Xiong ZX; Loh, Amos H P AHP
Publication Date: 2022-06-30

Variant appearance in text: BARD1: C557S
PubMed Link: 35768791
Variant Present in the following documents:
  • 12885_2022_9800_MOESM1_ESM.pdf
View BVdb publication page



BARD1 mystery: tumor suppressors are cancer susceptibility genes.

Bmc Cancer
Hawsawi, Yousef M YM; Shams, Anwar A; Theyab, Abdulrahman A; Abdali, Wed A WA; Hussien, Nahed A NA; Alatwi, Hanan E HE; Alzahrani, Othman R OR; Oyouni, Atif Abdulwahab A AAA; Babalghith, Ahmad O AO; Alreshidi, Mousa M
Publication Date: 2022-06-01

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 35650591
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9567.pdf
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: BARD1: 1670G>C; Cys557Ser; rs28997576
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: 1670G>C; Cys557Ser; rs28997576
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
View BVdb publication page



A synergetic effect of BARD1 mutations on tumorigenesis.

Nature Communications
Li, Wenjing W; Gu, Xiaoyang X; Liu, Chunhong C; Shi, Yanyan Y; Wang, Pan P; Zhang, Na N; Wu, Rui R; Leng, Liang L; Xie, Bingteng B; Song, Chen C; Li, Mo M
Publication Date: 2021-02-23

Variant appearance in text: BARD1: C557S
PubMed Link: 33623049
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_21519.pdf
View BVdb publication page



The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Publication Date: 2021-03

Variant appearance in text: BARD1: 1670G>C; Cys557Ser; rs28997576
PubMed Link: 33402737
Variant Present in the following documents:
  • 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



BARD1 and Breast Cancer: The Possibility of Creating Screening Tests and New Preventive and Therapeutic Pathways for Predisposed Women.

Genes
Śniadecki, Marcin M; Brzeziński, Michał M; Darecka, Katarzyna K; Klasa-Mazurkiewicz, Dagmara D; Poniewierza, Patryk P; Krzeszowiec, Marta M; Kmieć, Natalia N; Wydra, Dariusz D
Publication Date: 2020-10-24

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 33114377
Variant Present in the following documents:
  • Main text
  • genes-11-01251.pdf
View BVdb publication page



p50 mono-ubiquitination and interaction with BARD1 regulates cell cycle progression and maintains genome stability.

Nature Communications
Wu, Longtao L; Crawley, Clayton D CD; Garofalo, Andrea A; Nichols, Jackie W JW; Campbell, Paige-Ashley PA; Khramtsova, Galina F GF; Olopade, Olufunmilayo I OI; Weichselbaum, Ralph R RR; Yamini, Bakhtiar B
Publication Date: 2020-10-06

Variant appearance in text: BARD1: C557S
PubMed Link: 33024116
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_18838.pdf
View BVdb publication page



Literature Review of BARD1 as a Cancer Predisposing Gene with a Focus on Breast and Ovarian Cancers.

Genes
Alenezi, Wejdan M WM; Fierheller, Caitlin T CT; Recio, Neil N; Tonin, Patricia N PN
Publication Date: 2020-07-27

Variant appearance in text: BARD1: 1670G>C; Cys557Ser
PubMed Link: 32726901
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: C557S
PubMed Link: 32708251
Variant Present in the following documents:
  • Main text
  • genes-11-00829.pdf
View BVdb publication page



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: Cys557Ser
PubMed Link: 32679805
Variant Present in the following documents:
  • genes-11-00798.pdf
View BVdb publication page



Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: BARD1: 1670G>C; C557S; rs28997576
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

International Journal Of Molecular Sciences
Winn, Jennifer S JS; Hasse, Zachary Z; Slifker, Michael M; Pei, Jianming J; Arisi-Fernandez, Sebastian M SM; Talarchek, Jacqueline N JN; Obeid, Elias E; Baldwin, Donald A DA; Gong, Yulan Y; Ross, Eric E; Cristofanilli, Massimo M; Alpaugh, R Katherine RK; Fernandez, Sandra V SV
Publication Date: 2020-02-14

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 32075053
Variant Present in the following documents:
  • ijms-21-01290.pdf
View BVdb publication page



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: BARD1: 1670G>C; C557S; rs28997576
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



Bioinformatics Analysis of Expression and Alterations of BARD1 in Breast Cancer.

Technology In Cancer Research & Treatment
Chen, Yong-Zi YZ; Zuo, Duo D; Ren, Hai-Ling HL; Fan, Sai-Jun SJ; Ying, Guoguang G
Publication Date: 2019

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 31808361
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1670G>C; rs28997576
PubMed Link: 31658756
Variant Present in the following documents:
  • Main text
  • genes-10-00786.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: BARD1: 1670G>C; C557S
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: 1670G>C; Cys557Ser; rs28997576
PubMed Link: 31371347
Variant Present in the following documents:
  • Main text
  • MCS004093Toh.pdf
View BVdb publication page



Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer.

Breast Cancer Research : Bcr
Weber-Lassalle, Nana N; Borde, Julika J; Weber-Lassalle, Konstantin K; Horváth, Judit J; Niederacher, Dieter D; Arnold, Norbert N; Kaulfuß, Silke S; Ernst, Corinna C; Paul, Victoria G VG; Honisch, Ellen E; Klaschik, Kristina K; Volk, Alexander E AE; Kubisch, Christian C; Rapp, Steffen S; Lichey, Nadine N; Altmüller, Janine J; Lepkes, Louisa L; Pohl-Rescigno, Esther E; Thiele, Holger H; Nürnberg, Peter P; Larsen, Mirjam M; Richters, Lisa L; Rhiem, Kerstin K; Wappenschmidt, Barbara B; Engel, Christoph C; Meindl, Alfons A; Schmutzler, Rita K RK; Hahnen, Eric E; Hauke, Jan J
Publication Date: 2019-04-29

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 31036035
Variant Present in the following documents:
  • 13058_2019_Article_1137.pdf
View BVdb publication page



Recent advances of therapeutic targets based on the molecular signature in breast cancer: genetic mutations and implications for current treatment paradigms.

Journal Of Hematology & Oncology
Lima, Zeinab Safarpour ZS; Ghadamzadeh, Mostafa M; Arashloo, Farzad Tahmasebi FT; Amjad, Ghazaleh G; Ebadi, Mohammad Reza MR; Younesi, Ladan L
Publication Date: 2019-04-11

Variant appearance in text: BARD1: Cys557Ser; rs28997576
PubMed Link: 30975222
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: BARD1: 1670G>C; Cys557Ser
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: BARD1: C557S
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
View BVdb publication page



Genetic Epidemiology of Breast Cancer in Latin America.

Genes
Zavala, Valentina A VA; Serrano-Gomez, Silvia J SJ; Dutil, Julie J; Fejerman, Laura L
Publication Date: 2019-02-18

Variant appearance in text: BARD1: 1670G>C; rs28997576
PubMed Link: 30781715
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Cost-Effectiveness of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer in Norway.

Mdm Policy & Practice
Asphaug, Lars L; Melberg, Hans Olav HO
Publication Date: 2019

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 30746499
Variant Present in the following documents:
  • 10.1177_2381468318821103.pdf
View BVdb publication page



TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01

Variant appearance in text: BARD1: C557S; rs28997576
PubMed Link: 30385747
Variant Present in the following documents:
  • 41467_2018_6690_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Genetic and transcriptional evolution alters cancer cell line drug response.

Nature
Ben-David, Uri U; Siranosian, Benjamin B; Ha, Gavin G; Tang, Helen H; Oren, Yaara Y; Hinohara, Kunihiko K; Strathdee, Craig A CA; Dempster, Joshua J; Lyons, Nicholas J NJ; Burns, Robert R; Nag, Anwesha A; Kugener, Guillaume G; Cimini, Beth B; Tsvetkov, Peter P; Maruvka, Yosef E YE; O'Rourke, Ryan R; Garrity, Anthony A; Tubelli, Andrew A AA; Bandopadhayay, Pratiti P; Tsherniak, Aviad A; Vazquez, Francisca F; Wong, Bang B; Birger, Chet C; Ghandi, Mahmoud M; Thorner, Aaron R AR; Bittker, Joshua A JA; Meyerson, Matthew M; Getz, Gad G; Beroukhim, Rameen R; Golub, Todd R TR
Publication Date: 2018-08

Variant appearance in text: BARD1: 1670G>C; C557S; rs28997576
PubMed Link: 30089904
Variant Present in the following documents:
  • NIHMS977514-supplement-Sup_Table_23.xlsx, sheet 1
View BVdb publication page



Role for a Bard1 SNP in Breast Cancer Susceptibility.

Ejifcc
Alonso, Juan Manuel Fernández JMF
Publication Date: 2005-10

Variant appearance in text: BARD1: C557S
PubMed Link: 29910701
Variant Present in the following documents:
  • Main text
  • ejifcc-16-089.pdf
View BVdb publication page



Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.

Journal Of Medical Genetics
Taylor, Amy A; Brady, Angela F AF; Frayling, Ian M IM; Hanson, Helen H; Tischkowitz, Marc M; Turnbull, Clare C; Side, Lucy L; ,
Publication Date: 2018-06

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 29661970
Variant Present in the following documents:
  • jmedgenet-2017-105188supp002.pdf
View BVdb publication page



Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics
Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2018-02-20

Variant appearance in text: BARD1: C557S; rs28997576
PubMed Link: 29458332
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_533.pdf
View BVdb publication page



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: BARD1: Cys557Ser; rs28997576
PubMed Link: 29292755
Variant Present in the following documents:
  • Main text
  • genes-08-00375.pdf
View BVdb publication page



Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations.

Biological Research
Jara, Lilian L; Morales, Sebastian S; de Mayo, Tomas T; Gonzalez-Hormazabal, Patricio P; Carrasco, Valentina V; Godoy, Raul R
Publication Date: 2017-10-06

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 28985766
Variant Present in the following documents:
  • Main text
  • 40659_2017_Article_139.pdf
View BVdb publication page



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: 1670G>C; Cys557Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: BARD1: C557S
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 9
View BVdb publication page



Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14

Variant appearance in text: rs28997576
PubMed Link: 28195122
Variant Present in the following documents:
  • ncomms14433-s3.xlsx, sheet 3
View BVdb publication page



BARD1 Gene Polymorphisms Confer Nephroblastoma Susceptibility.

Ebiomedicine
Fu, Wen W; Zhu, Jinhong J; Xiong, Si-Wei SW; Jia, Wei W; Zhao, Zhang Z; Zhu, Shi-Bo SB; Hu, Jin-Hua JH; Wang, Feng-Hua FH; Xia, Huimin H; He, Jing J; Liu, Guo-Chang GC
Publication Date: 2017-02

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 28161399
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Scientific Reports
Castellanos, Elisabeth E; Gel, Bernat B; Rosas, Inma I; Tornero, Eva E; Santín, Sheila S; Pluvinet, Raquel R; Velasco, Juan J; Sumoy, Lauro L; Del Valle, Jesús J; Perucho, Manuel M; Blanco, Ignacio I; Navarro, Matilde M; Brunet, Joan J; Pineda, Marta M; Feliubadaló, Lidia L; Capellá, Gabi G; Lázaro, Conxi C; Serra, Eduard E
Publication Date: 2017-01-04

Variant appearance in text: BARD1: C557S
PubMed Link: 28051113
Variant Present in the following documents:
  • srep39348.pdf
View BVdb publication page



Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: BARD1: C557S; rs28997576
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
View BVdb publication page



Genomic Biomarkers for Breast Cancer Risk.

Advances In Experimental Medicine And Biology
Walsh, Michael F MF; Nathanson, Katherine L KL; Couch, Fergus J FJ; Offit, Kenneth K
Publication Date: 2016

Variant appearance in text: BARD1: C557S
PubMed Link: 26987529
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Association between GWAS-identified BARD1 Gene SNPs and Neuroblastoma Susceptibility in a Southern Chinese Population.

International Journal Of Medical Sciences
Zhang, Ruizhong R; Zou, Yan Y; Zhu, Jinhong J; Zeng, Xinhao X; Yang, Tianyou T; Wang, Fenghua F; He, Jing J; Xia, Huimin H
Publication Date: 2016

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 26941572
Variant Present in the following documents:
  • Main text
  • ijmsv13p0133.pdf
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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: rs28997576
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand Breaks.

Human Mutation
Lee, Cindy C; Banerjee, Tapahsama T; Gillespie, Jessica J; Ceravolo, Amanda A; Parvinsmith, Matthew R MR; Starita, Lea M LM; Fields, Stanley S; Toland, Amanda E AE; Parvin, Jeffrey D JD
Publication Date: 2015-12

Variant appearance in text: BARD1: C557S
PubMed Link: 26350354
Variant Present in the following documents:
  • Main text
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Targeted or whole genome sequencing of formalin fixed tissue samples: potential applications in cancer genomics.

Oncotarget
Munchel, Sarah S; Hoang, Yen Y; Zhao, Yue Y; Cottrell, Joseph J; Klotzle, Brandy B; Godwin, Andrew K AK; Koestler, Devin D; Beyerlein, Peter P; Fan, Jian-Bing JB; Bibikova, Marina M; Chien, Jeremy J
Publication Date: 2015-09-22

Variant appearance in text: BARD1: C557S
PubMed Link: 26305677
Variant Present in the following documents:
  • Main text
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A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer.

Plos One
Yang, Liu L; Wang, Guosheng G; Zhao, Xinyi X; Ye, Song S; Shen, Peng P; Wang, Weilin W; Zheng, Shusen S
Publication Date: 2015

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 26241669
Variant Present in the following documents:
  • pone.0133020.pdf
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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: BARD1: C557S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
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Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.

Scientific Reports
Klonowska, Katarzyna K; Ratajska, Magdalena M; Czubak, Karol K; Kuzniacka, Alina A; Brozek, Izabela I; Koczkowska, Magdalena M; Sniadecki, Marcin M; Debniak, Jaroslaw J; Wydra, Dariusz D; Balut, Magdalena M; Stukan, Maciej M; Zmienko, Agnieszka A; Nowakowska, Beata B; Irminger-Finger, Irmgard I; Limon, Janusz J; Kozlowski, Piotr P
Publication Date: 2015-05-21

Variant appearance in text: BARD1: 1670G>C; Cys557Ser
PubMed Link: 25994375
Variant Present in the following documents:
  • Main text
  • srep10424.pdf
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Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: BARD1: C557S; rs28997576
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: BARD1: C557S; rs28997576
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 11
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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: BARD1: C557S; rs28997576
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
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Analyzing association of the XRCC3 gene polymorphism with ovarian cancer risk.

Biomed Research International
Yuan, Cunzhong C; Liu, Xiaoyan X; Yan, Shi S; Wang, Cunfang C; Kong, Beihua B
Publication Date: 2014

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 25006581
Variant Present in the following documents:
  • BMRI2014-648137.pdf
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Growing recognition of the role for rare missense substitutions in breast cancer susceptibility.

Biomarkers In Medicine
Tavtigian, Sean V SV; Chenevix-Trench, Georgia G
Publication Date: 2014

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 24796624
Variant Present in the following documents:
  • Main text
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The BRCA1 Breast Cancer Suppressor: Regulation of Transport, Dynamics, and Function at Multiple Subcellular Locations.

Scientifica
Henderson, Beric R BR
Publication Date: 2012

Variant appearance in text: BARD1: Cys557Ser
PubMed Link: 24278741
Variant Present in the following documents:
  • SCIENTIFICA2012-796808.pdf
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Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms.

Leukemia
Tenedini, E E; Bernardis, I I; Artusi, V V; Artuso, L L; Roncaglia, E E; Guglielmelli, P P; Pieri, L L; Bogani, C C; Biamonte, F F; Rotunno, G G; Mannarelli, C C; Bianchi, E E; Pancrazzi, A A; Fanelli, T T; Malagoli Tagliazucchi, G G; Ferrari, S S; Manfredini, R R; Vannucchi, A M AM; Tagliafico, E E; ,
Publication Date: 2014-05

Variant appearance in text: BARD1: C557S
PubMed Link: 24150215
Variant Present in the following documents:
  • Main text
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