BRCA1 c.2286A>T ;(p.R762S)

Variant ID: 17-41245262-T-A

NM_007294.3(BRCA1):c.2286A>T;(p.R762S)

This variant was identified in 40 publications

View GRCh38 version.




Publications:


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: BRCA1: R762S
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs273898682
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 2
View BVdb publication page



Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s001.xlsx, sheet 2
  • IJC-152-1159-s001.xlsx, sheet 3
  • IJC-152-1159-s006.xlsx, sheet 2
View BVdb publication page



Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA1: R762S
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



BRCA1 and Breast Cancer: Molecular Mechanisms and Therapeutic Strategies.

Frontiers In Cell And Developmental Biology
Fu, Xiaoyu X; Tan, Wei W; Song, Qibin Q; Pei, Huadong H; Li, Juanjuan J
Publication Date: 2022

Variant appearance in text: BRCA1: 2286A>T
PubMed Link: 35300412
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 1
View BVdb publication page



DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine
Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N
Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 2286A>T
PubMed Link: 35209950
Variant Present in the following documents:
  • 13073_2022_1027_MOESM22_ESM.xls, sheet 1
View BVdb publication page



Mutation Landscape of Homologous Recombination Repair Genes in Epithelial Ovarian Cancer in China and Its Relationship With Clinicopathlological Characteristics.

Frontiers In Oncology
Yao, Qianlan Q; Liu, Yanhui Y; Zhang, Lihua L; Dong, Lin L; Bao, Longlong L; Bai, Qianming Q; Cui, Qian Q; Xu, Jie J; Li, Min M; Liu, Jing J; Chuai, Shannon S; Ying, Jianming J; Zhang, Zhihong Z; Zhou, Xiaoyan X
Publication Date: 2022

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser; rs273898682
PubMed Link: 35186721
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 3
View BVdb publication page



Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: BRCA1: 2286A>T; R762S
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01

Variant appearance in text: BRCA1: 2286A>T
PubMed Link: 35000471
Variant Present in the following documents:
  • sj-pdf-3-imr-10.1177_03000605211070757.pdf
View BVdb publication page



BRCA1/BRCA2 mutation spectrum analysis in South Asia: a systematic review.

The Journal Of International Medical Research
Kharel, Sanjeev S; Shrestha, Suraj S; Yadav, Siddhartha S; Shakya, Prafulla P; Baidya, Sujita S; Hirachan, Suzita S
Publication Date: 2022-01

Variant appearance in text: BRCA1: 2286A>T
PubMed Link: 35000471
Variant Present in the following documents:
  • sj-pdf-3-imr-10.1177_03000605211070757.pdf
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: BRCA1: 2286A>T; Arg762Ser; rs273898682
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: BRCA1: 2286A>T; Arg762Ser; rs273898682
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer.

Bmc Cancer
Eoh, Kyung Jin KJ; Kim, Hye Min HM; Lee, Jung-Yun JY; Kim, Sunghoon S; Kim, Sang Wun SW; Kim, Young Tae YT; Nam, Eun Ji EJ
Publication Date: 2020-03-12

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser
PubMed Link: 32164585
Variant Present in the following documents:
  • 12885_2020_6693_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.

Aging
Chen, Bo B; Zhang, Guochun G; Li, Xuerui X; Ren, Chongyang C; Wang, Yulei Y; Li, Kai K; Mok, Hsiaopei H; Cao, Li L; Wen, Lingzhu L; Jia, Minghan M; Li, Cheukfai C; Guo, Liping L; Wei, Guangnan G; Lin, Jiali J; Li, Yingzi Y; Zhang, Yuchen Y; Han-Zhang, Han H; Liu, Jing J; Lizaso, Analyn A; Liao, Ning N
Publication Date: 2020-02-24

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser; rs273898682
PubMed Link: 32091409
Variant Present in the following documents:
  • aging-12-102783-s001..xlsx, sheet 1
View BVdb publication page



Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC
Publication Date: 2020-05

Variant appearance in text: BRCA1: 2286A>T; R762S; rs273898682
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.

Molecular Genetics & Genomic Medicine
Chen, Zhanhong Z; Sun, Tian T; Yang, Ziyan Z; Zheng, Yabing Y; Yu, Ruoying R; Wu, Xue X; Yan, Junrong J; Shao, Yang W YW; Shao, Xiying X; Cao, Wenming W; Wang, Xiaojia X
Publication Date: 2020-02

Variant appearance in text: BRCA1: 2286A>T; R762S
PubMed Link: 31867841
Variant Present in the following documents:
  • MGG3-8-e1079-s004.xlsx, sheet 1
View BVdb publication page



Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Publication Date: 2020-04

Variant appearance in text: BRCA1: 2286A>T
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Maintenance of pegylated liposomal doxorubicin/carboplatin in patients with advanced ovarian cancer: randomized study of an Asian Gynecologic Oncology Group.

Journal Of Gynecologic Oncology
Lai, Chyong Huey CH; Vallikad, Elizabeth E; Lin, Hao H; Yang, Lan Yan LY; Jung, Shih Ming SM; Liu, Hsueh Erh HE; Ou, Yu Che YC; Chou, Hung Hsueh HH; Lin, Cheng Tao CT; Huang, Huei Jean HJ; Huang, Kuan Gen KG; Qiu, Jiantai J; Hung, Yao Ching YC; Wu, Tzu I TI; Chang, Wei Yang WY; Tan, Kien Thiam KT; Lin, Chiao Yun CY; Chao, Angel A; Chang, Chee Jen CJ
Publication Date: 2020-01

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser
PubMed Link: 31788995
Variant Present in the following documents:
  • jgo-31-e5-s004.xls, sheet 1
View BVdb publication page



Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort.

Bmc Medical Genetics
Akter, Hosneara H; Sultana, Nasima N; Martuza, Nazrana N; Siddiqua, Aaysha A; Dity, Nushrat Jahan NJ; Rahaman, Md Atikur MA; Samara, Bisan B; Sayeed, Ahmed A; Basiruzzaman, Mohammed M; Rahman, Mohammad Mizanur MM; Rashidul Hoq, Md M; Amin, Md Robed MR; Baqui, Md Abdul MA; Woodbury-Smith, Marc M; Uddin, K M Furkan KMF; Islam, Syed S SS; Awwal, Rayhana R; Berdiev, Bakhrom K BK; Uddin, Mohammed M
Publication Date: 2019-09-02

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser
PubMed Link: 31477031
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_881.pdf
View BVdb publication page



Bile cell‑free DNA as a novel and powerful liquid biopsy for detecting somatic variants in biliary tract cancer.

Oncology Reports
Shen, Ningjia N; Zhang, Dadong D; Yin, Lei L; Qiu, Yinghe Y; Liu, Jian J; Yu, Wenlong W; Fu, Xiaohui X; Zhu, Bin B; Xu, Xiaoya X; Duan, Anqi A; Chen, Zishuo Z; Wang, Xiang X; Cao, Xinkai X; Zhao, Teng T; Zhou, Zisong Z; Yu, Lianghe L; Qin, Hao H; Fang, Zheng Z; Li, Jing-Yu JY; Liu, Yuanjin Y; Xiong, Lei L; Yuan, Bo B; Li, Fugen F; Zhang, Yongjie Y
Publication Date: 2019-08

Variant appearance in text: BRCA1: R762S
PubMed Link: 31173267
Variant Present in the following documents:
  • Main text
  • or-42-02-0549.pdf
View BVdb publication page



Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Bmc Medical Genetics
Chen, Xiang X; Yan, Kai K; Gao, Yanyan Y; Wang, Huijun H; Chen, Guoqiang G; Wu, Bingbing B; Qin, Qian Q; Yang, Lin L; Zhou, Wenhao W
Publication Date: 2019-05-30

Variant appearance in text: BRCA1: 2286A>T; R762S
PubMed Link: 31146700
Variant Present in the following documents:
  • 12881_2019_813_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Human Mutation
Parsons, Michael T MT; Tudini, Emma E; Li, Hongyan H; Hahnen, Eric E; Wappenschmidt, Barbara B; Feliubadaló, Lidia L; Aalfs, Cora M CM; Agata, Simona S; Aittomäki, Kristiina K; Alducci, Elisa E; Alonso-Cerezo, María Concepción MC; Arnold, Norbert N; Auber, Bernd B; Austin, Rachel R; Azzollini, Jacopo J; Balmaña, Judith J; Barbieri, Elena E; Bartram, Claus R CR; Blanco, Ana A; Blümcke, Britta B; Bonache, Sandra S; Bonanni, Bernardo B; Borg, Åke Å; Bortesi, Beatrice B; Brunet, Joan J; Bruzzone, Carla C; Bucksch, Karolin K; Cagnoli, Giulia G; Caldés, Trinidad T; Caliebe, Almuth A; Caligo, Maria A MA; Calvello, Mariarosaria M; Capone, Gabriele L GL; Caputo, Sandrine M SM; Carnevali, Ileana I; Carrasco, Estela E; Caux-Moncoutier, Virginie V; Cavalli, Pietro P; Cini, Giulia G; Clarke, Edward M EM; Concolino, Paola P; Cops, Elisa J EJ; Cortesi, Laura L; Couch, Fergus J FJ; Darder, Esther E; de la Hoya, Miguel M; Dean, Michael M; Debatin, Irmgard I; Del Valle, Jesús J; Delnatte, Capucine C; Derive, Nicolas N; Diez, Orland O; Ditsch, Nina N; Domchek, Susan M SM; Dutrannoy, Véronique V; Eccles, Diana M DM; Ehrencrona, Hans H; Enders, Ute U; Evans, D Gareth DG; Farra, Chantal C; Faust, Ulrike U; Felbor, Ute U; Feroce, Irene I; Fine, Miriam M; Foulkes, William D WD; Galvao, Henrique C R HCR; Gambino, Gaetana G; Gehrig, Andrea A; Gensini, Francesca F; Gerdes, Anne-Marie AM; Germani, Aldo A; Giesecke, Jutta J; Gismondi, Viviana V; Gómez, Carolina C; Gómez Garcia, Encarna B EB; González, Sara S; Grau, Elia E; Grill, Sabine S; Gross, Eva E; Guerrieri-Gonzaga, Aliana A; Guillaud-Bataille, Marine M; Gutiérrez-Enríquez, Sara S; Haaf, Thomas T; Hackmann, Karl K; Hansen, Thomas V O TVO; Harris, Marion M; Hauke, Jan J; Heinrich, Tilman T; Hellebrand, Heide H; Herold, Karen N KN; Honisch, Ellen E; Horvath, Judit J; Houdayer, Claude C; Hübbel, Verena V; Iglesias, Silvia S; Izquierdo, Angel A; James, Paul A PA; Janssen, Linda A M LAM; Jeschke, Udo U; Kaulfuß, Silke S; Keupp, Katharina K; Kiechle, Marion M; Kölbl, Alexandra A; Krieger, Sophie S; Kruse, Torben A TA; Kvist, Anders A; Lalloo, Fiona F; Larsen, Mirjam M; Lattimore, Vanessa L VL; Lautrup, Charlotte C; Ledig, Susanne S; Leinert, Elena E; Lewis, Alexandra L AL; Lim, Joanna J; Loeffler, Markus M; López-Fernández, Adrià A; Lucci-Cordisco, Emanuela E; Maass, Nicolai N; Manoukian, Siranoush S; Marabelli, Monica M; Matricardi, Laura L; Meindl, Alfons A; Michelli, Rodrigo D RD; Moghadasi, Setareh S; Moles-Fernández, Alejandro A; Montagna, Marco M; Montalban, Gemma G; Monteiro, Alvaro N AN; Montes, Eva E; Mori, Luigi L; Moserle, Lidia L; Müller, Clemens R CR; Mundhenke, Christoph C; Naldi, Nadia N; Nathanson, Katherine L KL; Navarro, Matilde M; Nevanlinna, Heli H; Nichols, Cassandra B CB; Niederacher, Dieter D; Nielsen, Henriette R HR; Ong, Kai-Ren KR; Pachter, Nicholas N; Palmero, Edenir I EI; Papi, Laura L; Pedersen, Inge Sokilde IS; Peissel, Bernard B; Perez-Segura, Pedro P; Pfeifer, Katharina K; Pineda, Marta M; Pohl-Rescigno, Esther E; Poplawski, Nicola K NK; Porfirio, Berardino B; Quante, Anne S AS; Ramser, Juliane J; Reis, Rui M RM; Revillion, Françoise F; Rhiem, Kerstin K; Riboli, Barbara B; Ritter, Julia J; Rivera, Daniela D; Rofes, Paula P; Rump, Andreas A; Salinas, Monica M; Sánchez de Abajo, Ana María AM; Schmidt, Gunnar G; Schoenwiese, Ulrike U; Seggewiß, Jochen J; Solanes, Ares A; Steinemann, Doris D; Stiller, Mathias M; Stoppa-Lyonnet, Dominique D; Sullivan, Kelly J KJ; Susman, Rachel R; Sutter, Christian C; Tavtigian, Sean V SV; Teo, Soo H SH; Teulé, Alex A; Thomassen, Mads M; Tibiletti, Maria Grazia MG; Tischkowitz, Marc M; Tognazzo, Silvia S; Toland, Amanda E AE; Tornero, Eva E; Törngren, Therese T; Torres-Esquius, Sara S; Toss, Angela A; Trainer, Alison H AH; Tucker, Katherine M KM; van Asperen, Christi J CJ; van Mackelenbergh, Marion T MT; Varesco, Liliana L; Vargas-Parra, Gardenia G; Varon, Raymonda R; Vega, Ana A; Velasco, Ángela Á; Vesper, Anne-Sophie AS; Viel, Alessandra A; Vreeswijk, Maaike P G MPG; Wagner, Sebastian A SA; Waha, Anke A; Walker, Logan C LC; Walters, Rhiannon J RJ; Wang-Gohrke, Shan S; Weber, Bernhard H F BHF; Weichert, Wilko W; Wieland, Kerstin K; Wiesmüller, Lisa L; Witzel, Isabell I; Wöckel, Achim A; Woodward, Emma R ER; Zachariae, Silke S; Zampiga, Valentina V; Zeder-Göß, Christine C; , ; Lázaro, Conxi C; De Nicolo, Arcangela A; Radice, Paolo P; Engel, Christoph C; Schmutzler, Rita K RK; Goldgar, David E DE; Spurdle, Amanda B AB
Publication Date: 2019-09

Variant appearance in text: BRCA1: 2286A>T
PubMed Link: 31131967
Variant Present in the following documents:
  • HUMU-40-1557-s001.xlsx, sheet 1
  • HUMU-40-1557-s001.xlsx, sheet 2
View BVdb publication page



Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes.

Cancer Medicine
Wang, Jiayu J; Li, Weiwei W; Shi, Yujian Y; Huang, Yan Y; Sun, Tao T; Tang, Lili L; Lu, Qing Q; Lei, Qiumo Q; Liao, Ning N; Jin, Feng F; Li, Hui H; Huang, Tao T; Qian, Jun J; Pang, Danmei D; Wang, Shusen S; Fan, Peizhi P; Wu, Xinhong X; Lin, Ying Y; Qin, Haiyan H; Xu, Binghe B
Publication Date: 2019-05

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser
PubMed Link: 30982232
Variant Present in the following documents:
  • CAM4-8-2074-s004.xlsx, sheet 1
View BVdb publication page



Tumor mutational profile of triple negative breast cancer patients in Thailand revealed distinctive genetic alteration in chromatin remodeling gene.

Peerj
Niyomnaitham, Suvimol S; Parinyanitikul, Napa N; Roothumnong, Ekkapong E; Jinda, Worapoj W; Samarnthai, Norasate N; Atikankul, Taywin T; Suktitipat, Bhoom B; Thongnoppakhun, Wanna W; Limwongse, Chanin C; Pithukpakorn, Manop M
Publication Date: 2019

Variant appearance in text: BRCA1: R762S
PubMed Link: 30828495
Variant Present in the following documents:
  • peerj-07-6501-s001.xlsx, sheet 6
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: rs273898682
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s004.xlsx, sheet 1
  • IJC-145-962-s007.xlsx, sheet 1
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser; rs273898682
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases.

Diagnostic Pathology
Ding, Ying Y; Wang, Cong C; Li, Xuejie X; Jiang, Yangyang Y; Mei, Ping P; Huang, Wenbin W; Song, Guoxin G; Wang, Jinsong J; Ping, Guoqiang G; Hu, Ran R; Miao, Chen C; He, Xiao X; Chen, Gang G; Li, Hai H; Zhu, Yan Y; Zhang, Zhihong Z
Publication Date: 2018-08-16

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser
PubMed Link: 30111351
Variant Present in the following documents:
  • 13000_2018_Article_732.pdf
View BVdb publication page



Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
Publication Date: 2019-01

Variant appearance in text: BRCA1: R762S
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Inherited breast cancer predisposition in Asians: multigene panel testing outcomes from Singapore.

Npj Genomic Medicine
Wong, Edward S Y ESY; Shekar, Sandhya S; Met-Domestici, Marie M; Chan, Claire C; Sze, Melody M; Yap, Yoon Sim YS; Rozen, Steven G SG; Tan, Min-Han MH; Ang, Peter P; Ngeow, Joanne J; Lee, Ann S G ASG
Publication Date: 2016

Variant appearance in text: BRCA1: R762S
PubMed Link: 29263802
Variant Present in the following documents:
  • Main text
  • npjgenmed20153.pdf
View BVdb publication page



The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.

Plos One
Sung, Pi-Lin PL; Wen, Kuo-Chang KC; Chen, Yi-Jen YJ; Chao, Ta-Chung TC; Tsai, Yi-Fang YF; Tseng, Ling-Ming LM; Qiu, Jian-Tai Timothy JT; Chao, Kuan-Chong KC; Wu, Hua-Hsi HH; Chuang, Chi-Mu CM; Wang, Peng-Hui PH; Huang, Chi-Ying F CF
Publication Date: 2017

Variant appearance in text: BRCA1: 2286A>T; R762S
PubMed Link: 28961279
Variant Present in the following documents:
  • Main text
  • pone.0185615.pdf
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: BRCA1: R762S
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x5.xls, sheet 1
  • emm2017142x4.xls, sheet 1
View BVdb publication page



Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia.

Breast Cancer Research And Treatment
Yang, Xiaohong R XR; Devi, Beena C R BCR; Sung, Hyuna H; Guida, Jennifer J; Mucaki, Eliseos J EJ; Xiao, Yanzi Y; Best, Ana A; Garland, Lisa L; Xie, Yi Y; Hu, Nan N; Rodriguez-Herrera, Maria M; Wang, Chaoyu C; Jones, Kristine K; Luo, Wen W; Hicks, Belynda B; Tang, Tieng Swee TS; Moitra, Karobi K; Rogan, Peter K PK; Dean, Michael M
Publication Date: 2017-10

Variant appearance in text: rs273898682
PubMed Link: 28664506
Variant Present in the following documents:
  • Main text
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: BRCA1: 2286A>T; Arg762Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
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Clinical Variant Classification: A Comparison of Public Databases and a Commercial Testing Laboratory.

The Oncologist
Gradishar, William W; Johnson, KariAnne K; Brown, Krystal K; Mundt, Erin E; Manley, Susan S
Publication Date: 2017-07

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser
PubMed Link: 28408614
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study.

Bmc Cancer
Lai, Kah Nyin KN; Ho, Weang Kee WK; Kang, In Nee IN; Kang, Peter Choon Eng PC; Phuah, Sze Yee SY; Mariapun, Shivaani S; Yip, Cheng-Har CH; Mohd Taib, Nur Aishah NA; Teo, Soo-Hwang SH
Publication Date: 2017-02-22

Variant appearance in text: BRCA1: Arg762Ser
PubMed Link: 28222693
Variant Present in the following documents:
  • Main text
  • 12885_2017_Article_3099.pdf
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Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer.

Bmc Cancer
Cao, Wen-Ming WM; Gao, Yun Y; Yang, Hong-Jian HJ; Xie, Shang-Nao SN; Ding, Xiao-Wen XW; Pan, Zhi-Wen ZW; Ye, Wei-Wu WW; Wang, Xiao-Jia XJ
Publication Date: 2016-02-06

Variant appearance in text: BRCA1: R762S
PubMed Link: 26852015
Variant Present in the following documents:
  • Main text
  • 12885_2016_Article_2107.pdf
View BVdb publication page



Prevalence and spectrum of BRCA germline variants in mainland Chinese familial breast and ovarian cancer patients.

Oncotarget
Kim, Yeong C YC; Zhao, Linli L; Zhang, Hanwen H; Huang, Ye Y; Cui, Jian J; Xiao, Fengxia F; Downs, Bradley B; Wang, San Ming SM
Publication Date: 2016-02-23

Variant appearance in text: BRCA1: 2286A>T; Arg762Ser
PubMed Link: 26848529
Variant Present in the following documents:
  • oncotarget-07-9600-s002.xlsx, sheet 1
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Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer.

Scientific Reports
Yu, Yang Y; Dong, Li L; Li, Dapeng D; Chuai, Shaokun S; Wu, Zhigang Z; Zheng, Xiangqian X; Cheng, Yanan Y; Han, Lei L; Yu, Jinpu J; Gao, Ming M
Publication Date: 2015-11-04

Variant appearance in text: BRCA1: R762S
PubMed Link: 26530882
Variant Present in the following documents:
  • Main text
  • srep16129.pdf
  • srep16129-s2.xls, sheet 1
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Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer.

Breast Cancer Research : Bcr
Thirthagiri, E E; Lee, S Y SY; Kang, P P; Lee, D S DS; Toh, G T GT; Selamat, S S; Yoon, S-Y SY; Taib, N A Mohd NA; Thong, M K MK; Yip, C H CH; Teo, S H SH
Publication Date: 2008

Variant appearance in text: BRCA1: R762S
PubMed Link: 18627636
Variant Present in the following documents:
  • Main text
  • bcr2118.pdf
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BRCA1 and BRCA2 germline mutations in Malaysian women with early-onset breast cancer without a family history.

Plos One
Toh, Gaik Theng GT; Kang, Peter P; Lee, Sharlene S W SS; Lee, Daphne Shin-Chi DS; Lee, Sheau Yee SY; Selamat, Suhaida S; Mohd Taib, Nur Aishah NA; Yoon, Sook-Yee SY; Yip, Cheng Har CH; Teo, Soo-Hwang SH
Publication Date: 2008-04-23

Variant appearance in text: BRCA1: 2286A>T; R762S
PubMed Link: 18431501
Variant Present in the following documents:
  • Main text
View BVdb publication page