BRCA2 c.3569G>A ;(p.R1190Q)

Variant ID: 13-32912061-G-A

NM_000059.3(BRCA2):c.3569G>A;(p.R1190Q)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


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: BRCA2: 3569G>A; Arg1190Gln; rs80358605
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: BRCA2: 3569G>A; Arg1190Gln; rs80358605
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: BRCA2: R1190Q
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: BRCA2: R1190Q
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Genome Medicine
Dorling, Leila L; Carvalho, Sara S; Allen, Jamie J; Parsons, Michael T MT; Fortuno, Cristina C; González-Neira, Anna A; Heijl, Stephan M SM; Adank, Muriel A MA; Ahearn, Thomas U TU; Andrulis, Irene L IL; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bremer, Michael M; Briceno, Ignacio I; Camp, Nicola J NJ; Campbell, Archie A; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; , ; Collée, J Margriet JM; Czene, Kamila K; Dennis, Joe J; Dörk, Thilo T; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gabrielson, Marike M; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Gündert, Melanie M; Hadjisavvas, Andreas A; Hahnen, Eric E; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Hartman, Mikael M; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hoppe, Reiner R; Howell, Anthony A; , ; , ; Jakubowska, Anna A; Jung, Audrey A; Khusnutdinova, Elza E; Kim, Sung-Won SW; Ko, Yon-Dschun YD; Kristensen, Vessela N VN; Lakeman, Inge M M IMM; Li, Jingmei J; Lindblom, Annika A; Loizidou, Maria A MA; Lophatananon, Artitaya A; Lubiński, Jan J; Luccarini, Craig C; Madsen, Michael J MJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Nevanlinna, Heli H; Newman, William G WG; Oosterwijk, Jan C JC; Park, Sue K SK; Peterlongo, Paolo P; Radice, Paolo P; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Shah, Mitul M; Sim, Xueling X; Southey, Melissa C MC; Surowy, Harald H; Suvanto, Maija M; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; Waltes, Regina R; Wang, Qin Q; Yang, Xiaohong R XR; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; Benitez, Javier J; Vroling, Bas B; Dunning, Alison M AM; Teo, Soo Hwang SH; Kvist, Anders A; de la Hoya, Miguel M; Devilee, Peter P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MPG; Easton, Douglas F DF
Publication Date: 2022-05-18

Variant appearance in text: BRCA2: 3569G>A; Arg1190Gln
PubMed Link: 35585550
Variant Present in the following documents:
  • 13073_2022_1052_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Association between germline pathogenic variants and breast cancer risk in Japanese women: The HERPACC study.

Cancer Science
Kasugai, Yumiko Y; Kohmoto, Tomohiro T; Taniyama, Yukari Y; Koyanagi, Yuriko N YN; Usui, Yoshiaki Y; Iwase, Madoka M; Oze, Isao I; Yamaguchi, Rui R; Ito, Hidemi H; Imoto, Issei I; Matsuo, Keitaro K
Publication Date: 2022-04

Variant appearance in text: BRCA2: 3569G>A; R1190Q; rs80358605
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.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: BRCA2: 3569G>A; Arg1190Gln; rs80358605
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.

Journal Of Applied Genetics
Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P
Publication Date: 2021-02

Variant appearance in text: BRCA2: R1190Q
PubMed Link: 33222100
Variant Present in the following documents:
  • 13353_2020_594_MOESM2_ESM.xlsx, sheet 1
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: BRCA2: 3569G>A; Arg1190Gln
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.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: BRCA2: 3569G>A; Arg1190Gln; rs80358605
PubMed Link: 31911673
Variant Present in the following documents:
  • 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
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: BRCA2: 3569G>A; R1190Q
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, 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: BRCA2: 3569G>A
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



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: BRCA2: 3569G>A; Arg1190Gln
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
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: BRCA2: R1190Q
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
  • mmc6.xlsx, sheet 2
View BVdb publication page



A Bayesian framework for efficient and accurate variant prediction.

Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018

Variant appearance in text: BRCA2: 3569G>A; R1190Q
PubMed Link: 30212499
Variant Present in the following documents:
  • pone.0203553.s008.xlsx, sheet 2
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: BRCA2: R1190Q
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
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: BRCA2: 3569G>A; Arg1190Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

Cancer
Pennington, Kathryn P KP; Walsh, Tom T; Lee, Ming M; Pennil, Christopher C; Novetsky, Akiva P AP; Agnew, Kathy J KJ; Thornton, Anne A; Garcia, Rochelle R; Mutch, David D; King, Mary-Claire MC; Goodfellow, Paul P; Swisher, Elizabeth M EM
Publication Date: 2013-01-15

Variant appearance in text: BRCA2: R1190Q
PubMed Link: 22811390
Variant Present in the following documents:
  • Main text
View BVdb publication page