BRCA2 c.7558C>T ;(p.R2520*)

Variant ID: 13-32930687-C-T

NM_000059.3(BRCA2):c.7558C>T;(p.R2520*)

This variant was identified in 79 publications

View GRCh38 version.




Publications:


Identification of Genomic Alterations in Thai Patients With Colorectal Cancer Using Next-Generation Sequencing-Based Multigene Cancer Panel.

Cureus
Jinda, Worapoj W; Moungthard, Hathaiwan H; Limwongse, Chanin C; Pithukpakorn, Manop M; Saelee, Pensri P; Pokkasup, Nareerat N; Khunpukdee, Saipan S; Sukthaworn, Suchitraporn S; Jumpasri, Jaruphan J
Publication Date: 2023-05

Variant appearance in text: BRCA2: 7558C>T; Arg2520*; rs80358981
PubMed Link: 37323311
Variant Present in the following documents:
  • Main text
  • cureus-0015-00000039067.pdf
View BVdb publication page



Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study.

Genome Medicine
Nacer, Deborah F DF; Vallon-Christersson, Johan J; Nordborg, Nicklas N; Ehrencrona, Hans H; Kvist, Anders A; Borg, Åke Å; Staaf, Johan J
Publication Date: 2023-04-14

Variant appearance in text: BRCA2: 7558C>T; Arg2520Ter
PubMed Link: 37060015
Variant Present in the following documents:
  • 13073_2023_1177_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



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: 7558C>T; R2520*; rs80358981
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Characterization of BRCA Deficiency in Ovarian Cancer.

Cancers
Barbero, Giovanna G; Zuntini, Roberta R; Magini, Pamela P; Desiderio, Laura L; Bonaguro, Michela M; Perrone, Anna Myriam AM; Rubino, Daniela D; Grippa, Mina M; De Leo, Antonio A; Ceccarelli, Claudio C; Godino, Lea L; Miccoli, Sara S; Ferrari, Simona S; Santini, Donatella D; De Iaco, Pierandrea P; Zamagni, Claudio C; Innella, Giovanni G; Turchetti, Daniela D
Publication Date: 2023-02-28

Variant appearance in text: BRCA2: 7558C>T; Arg2520Ter
PubMed Link: 36900320
Variant Present in the following documents:
  • cancers-15-01530.pdf
View BVdb publication page



Prevalence of Pathogenic Germline Mutations in 13 Hereditary Cancer-Related Genes in Breast Cancer Patients in Narathiwat Province, Thailand.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Sukpan, Panupong P; Kanokwiroon, Kanyanatt K; Sriplung, Hutcha H; Laochareonsuk, Wison W; Choochuen, Pongsakorn P; Auseng, Nasuha N; Wanawanakorn, Kasemsun K; Sangkhathat, Surasak S
Publication Date: 2023-02-01

Variant appearance in text: BRCA2: 7558C>T; Arg2520Ter
PubMed Link: 36853301
Variant Present in the following documents:
  • Main text
  • APJCP-24-525.pdf
View BVdb publication page



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: BRCA2: 7558C>T; Arg2520Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Publication Date: 2023-03

Variant appearance in text: BRCA2: R2520X; rs80358981
PubMed Link: 36816149
Variant Present in the following documents:
  • BCO2-4-156-s001.xlsx, sheet 1
View BVdb publication page



Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023

Variant appearance in text: BRCA2: 7558C>T
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.xlsx, sheet 1
View BVdb publication page



Antitumour activity of neratinib in patients with HER2-mutant advanced biliary tract cancers.

Nature Communications
Harding, James J JJ; Piha-Paul, Sarina A SA; Shah, Ronak H RH; Murphy, Jessica J JJ; Cleary, James M JM; Shapiro, Geoffrey I GI; Quinn, David I DI; Braña, Irene I; Moreno, Victor V; Borad, Mitesh M; Loi, Sherene S; Spanggaard, Iben I; Park, Haeseong H; Ford, James M JM; Arnedos, Mónica M; Stemmer, Salomon M SM; de la Fouchardiere, Christelle C; Fountzilas, Christos C; Zhang, Jie J; DiPrimeo, Daniel D; Savin, Casey C; Duygu Selcuklu, S S; Berger, Michael F MF; Eli, Lisa D LD; Meric-Bernstam, Funda F; Jhaveri, Komal K; Solit, David B DB; Abou-Alfa, Ghassan K GK
Publication Date: 2023-02-06

Variant appearance in text: BRCA2: R2520*
PubMed Link: 36746967
Variant Present in the following documents:
  • Main text
  • 41467_2023_36399_MOESM3_ESM.xlsx, sheet 7
  • 41467_2023_Article_36399.pdf
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: 7558C>T
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 4
  • IJC-152-1159-s010.xlsx, sheet 3
  • IJC-152-1159-s011.xlsx, sheet 2
  • IJC-152-1159-s005.xlsx, sheet 2
  • IJC-152-1159-s005.xlsx, sheet 3
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page



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: BRCA2: R2520X
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Communications Biology
Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC
Publication Date: 2022-10-06

Variant appearance in text: BRCA2: 7558C>T; Arg2520X
PubMed Link: 36203093
Variant Present in the following documents:
  • 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14
View BVdb publication page



Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.

Frontiers In Genetics
Doraczynska-Kowalik, Anna A; Michalowska, Dagmara D; Matkowski, Rafal R; Czykalko, Ewelina E; Blomka, Dorota D; Semeniuk, Mariola M; Abrahamowska, Mariola M; Janus-Szymanska, Gabriela G; Mlynarczykowska, Paulina P; Szynglarewicz, Bartlomiej B; Pawlak, Ireneusz I; Maciejczyk, Adam A; Laczmanska, Izabela I
Publication Date: 2022

Variant appearance in text: BRCA2: 7558C>T; Arg2520Ter; rs80358981
PubMed Link: 36171877
Variant Present in the following documents:
  • Main text
  • fgene-13-941375.pdf
View BVdb publication page



Germline variants profiling of BRCA1 and BRCA2 in Chinese Hakka breast and ovarian cancer patients.

Bmc Cancer
Zhang, Yunuo Y; Wu, Heming H; Yu, Zhikang Z; Li, Liang L; Zhang, Jinhong J; Liang, Xinhong X; Huang, Qingyan Q
Publication Date: 2022-08-02

Variant appearance in text: BRCA2: Arg2520*
PubMed Link: 35918668
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9943.pdf
View BVdb publication page



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: BRCA2: 7558C>T; Arg2520Ter; rs80358981
PubMed Link: 35595529
Variant Present in the following documents:
  • LSA-2021-01319_TableS5.xlsx, sheet 1
  • LSA-2021-01319_TableS3.xlsx, sheet 2
  • LSA-2021-01319_TableS1.xlsx, sheet 1
View BVdb publication page



Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.

Jama Oncology
Momozawa, Yukihide Y; Sasai, Rumi R; Usui, Yoshiaki Y; Shiraishi, Kouya K; Iwasaki, Yusuke Y; Taniyama, Yukari Y; Parsons, Michael T MT; Mizukami, Keijiro K; Sekine, Yuya Y; Hirata, Makoto M; Kamatani, Yoichiro Y; Endo, Mikiko M; Inai, Chihiro C; Takata, Sadaaki S; Ito, Hidemi H; Kohno, Takashi T; Matsuda, Koichi K; Nakamura, Seigo S; Sugano, Kokichi K; Yoshida, Teruhiko T; Nakagawa, Hidewaki H; Matsuo, Keitaro K; Murakami, Yoshinori Y; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2022-06-01

Variant appearance in text: BRCA2: 7558C>T; Arg2520*; rs80358981
PubMed Link: 35420638
Variant Present in the following documents:
  • jamaoncol-e220476-s001.pdf
View BVdb publication page



The Features of BRCA1 and BRCA2 Germline Mutations in Hakka Ovarian Cancer Patients: BRCA1 C.536 A>T Maybe a Founder Mutation in This Population.

International Journal Of General Medicine
Luo, Yu Y; Wu, Heming H; Huang, Qingyan Q; Rao, Hui H; Yu, Zhikang Z; Zhong, Zhixiong Z
Publication Date: 2022

Variant appearance in text: BRCA2: 7558C>T
PubMed Link: 35300142
Variant Present in the following documents:
  • Main text
  • ijgm-15-2773.pdf
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: BRCA2: Arg2520*
PubMed Link: 34912045
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2930.pdf
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 9
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: BRCA2: Arg2520*
PubMed Link: 34912045
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2930.pdf
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 9
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 8
View BVdb publication page



Germline breast cancer susceptibility genes, tumor characteristics, and survival.

Genome Medicine
Ho, Peh Joo PJ; Khng, Alexis J AJ; Loh, Hui Wen HW; Ho, Weang-Kee WK; Yip, Cheng Har CH; Mohd-Taib, Nur Aishah NA; Tan, Veronique Kiak Mien VKM; Tan, Benita Kiat-Tee BK; Tan, Su-Ming SM; Tan, Ern Yu EY; Lim, Swee Ho SH; Jamaris, Suniza S; Sim, Yirong Y; Wong, Fuh Yong FY; Ngeow, Joanne J; Lim, Elaine Hsuen EH; Tai, Mei Chee MC; Wijaya, Eldarina Azfar EA; Lee, Soo Chin SC; Chan, Ching Wan CW; Buhari, Shaik Ahmad SA; Chan, Patrick M Y PMY; Chen, Juliana J C JJC; Seah, Jaime Chin Mui JCM; Lee, Wai Peng WP; Mok, Chi Wei CW; Lim, Geok Hoon GH; Woo, Evan E; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Dunning, Alison M AM; Easton, Douglas F DF; Schmidt, Marjanka K MK; Teo, Soo-Hwang SH; Li, Jingmei J; Hartman, Mikael M
Publication Date: 2021-12-02

Variant appearance in text: BRCA2: 7558C>T; Arg2520Ter
PubMed Link: 34857041
Variant Present in the following documents:
  • 13073_2021_978_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Association of Inherited Mutations in DNA Repair Genes with Localized Prostate Cancer.

European Urology
Lee, Daniel J DJ; Hausler, Ryan R; Le, Anh N AN; Kelly, Gregory G; Powers, Jacquelyn J; Ding, James J; Feld, Emily E; Desai, Heena H; Morrison, Casey C; Doucette, Abigail A; Gabriel, Peter P; Genetics Center, Regeneron R; Judy, Renae L RL; Weaver, Joellen J; Kember, Rachel R; Damrauer, Scott M SM; Rader, Daniel J DJ; Domchek, Susan M SM; Narayan, Vivek V; Schwartz, Lauren E LE; Maxwell, Kara N KN
Publication Date: 2022-06

Variant appearance in text: BRCA2: R2520X
PubMed Link: 34711450
Variant Present in the following documents:
  • NIHMS1772233-supplement-Supplementary_Tables.xlsx, sheet 3
View BVdb publication page



The mutation landscape of multiple cancer predisposition genes in Chinese familial/hereditary breast cancer families.

Cancer Biology & Medicine
Dong, Li L; Zhang, Hailian H; Zhang, Huan H; Ye, Yingnan Y; Cheng, Yanan Y; Li, Lijuan L; Wei, Lijuan L; Han, Lei L; Cao, Yandong Y; Li, Shixia S; Hao, Xishan X; Liu, Juntian J; Yu, Jinpu J
Publication Date: 2021-09-28

Variant appearance in text: BRCA2: 7558C>T; Arg2520Ter
PubMed Link: 34570441
Variant Present in the following documents:
  • Main text
  • cbm-19-850.pdf
  • cbm-19-850-s001.pdf
View BVdb publication page



Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.

Jnci Cancer Spectrum
Fan, Xiao X; Wynn, Julia J; Shang, Ning N; Liu, Cong C; Fedotov, Alexander A; Hallquist, Miranda L G MLG; Buchanan, Adam H AH; Williams, Marc S MS; Smith, Maureen E ME; Hoell, Christin C; Rasmussen-Torvik, Laura J LJ; Peterson, Josh F JF; Wiesner, Georgia L GL; Murad, Andrea M AM; Jarvik, Gail P GP; Gordon, Adam S AS; Rosenthal, Elisabeth A EA; Stanaway, Ian B IB; Crosslin, David R DR; Larson, Eric B EB; Leppig, Kathleen A KA; Henrikson, Nora B NB; Williams, Janet L JL; Li, Rongling R; Hebbring, Scott S; Weng, Chunhua C; Shen, Yufeng Y; Crew, Katherine D KD; Chung, Wendy K WK
Publication Date: 2021-08

Variant appearance in text: BRCA2: 7558C>T
PubMed Link: 34377931
Variant Present in the following documents:
  • pkab044_supplementary_data.pdf
View BVdb publication page



Penetrance of Breast Cancer Susceptibility Genes From the eMERGE III Network.

Jnci Cancer Spectrum
Fan, Xiao X; Wynn, Julia J; Shang, Ning N; Liu, Cong C; Fedotov, Alexander A; Hallquist, Miranda L G MLG; Buchanan, Adam H AH; Williams, Marc S MS; Smith, Maureen E ME; Hoell, Christin C; Rasmussen-Torvik, Laura J LJ; Peterson, Josh F JF; Wiesner, Georgia L GL; Murad, Andrea M AM; Jarvik, Gail P GP; Gordon, Adam S AS; Rosenthal, Elisabeth A EA; Stanaway, Ian B IB; Crosslin, David R DR; Larson, Eric B EB; Leppig, Kathleen A KA; Henrikson, Nora B NB; Williams, Janet L JL; Li, Rongling R; Hebbring, Scott S; Weng, Chunhua C; Shen, Yufeng Y; Crew, Katherine D KD; Chung, Wendy K WK
Publication Date: 2021-08

Variant appearance in text: BRCA2: 7558C>T
PubMed Link: 34377931
Variant Present in the following documents:
  • pkab044_supplementary_data.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: BRCA2: 7558C>T; R2520X; rs80358981
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



The Prognostic and Predictive Role of Somatic BRCA Mutations in Ovarian Cancer: Results from a Multicenter Cohort Study.

Diagnostics (Basel, Switzerland)
Toss, Angela A; Piombino, Claudia C; Tenedini, Elena E; Bologna, Alessandra A; Gasparini, Elisa E; Tarantino, Vittoria V; Filieri, Maria Elisabetta ME; Cottafavi, Luca L; Giovanardi, Filippo F; Madrigali, Stefano S; Civallero, Monica M; Marcheselli, Luigi L; Marchi, Isabella I; Domati, Federica F; Venturelli, Marta M; Barbieri, Elena E; Grandi, Giovanni G; Tagliafico, Enrico E; Cortesi, Laura L
Publication Date: 2021-03-21

Variant appearance in text: BRCA2: 7558C>T; Arg2520*
PubMed Link: 33801055
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00565.pdf
View BVdb publication page



Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology
Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X
Publication Date: 2021-03-10

Variant appearance in text: BRCA2: R2520X
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.

Jama Network Open
George, Sophia H L SHL; Donenberg, Talia T; Alexis, Cheryl C; DeGennaro, Vincent V; Dyer, Hedda H; Yin, Sook S; Ali, Jameel J; Butler, Raleigh R; Chin, Sheray N SN; Curling, DuVaughn D; Lowe, Dwight D; Lunn, John J; Turnquest, Theodore T; Wharfe, Gilian G; Cerbon, Danielle D; Barreto-Coelho, Priscila P; Schlumbrecht, Matthew P MP; Akbari, Mohammad R MR; Narod, Steven A SA; Hurley, Judith E JE
Publication Date: 2021-03-01

Variant appearance in text: BRCA2: 7558C>T
PubMed Link: 33646313
Variant Present in the following documents:
  • jamanetwopen-e210307-s001.pdf
View BVdb publication page



Comprehensive molecular profiling of Taiwanese breast cancers revealed potential therapeutic targets: prevalence of actionable mutations among 380 targeted sequencing analyses.

Bmc Cancer
Huang, Chi-Cheng CC; Tsai, Yi-Fang YF; Liu, Chun-Yu CY; Chao, Ta-Chung TC; Lien, Pei-Ju PJ; Lin, Yen-Shu YS; Feng, Chin-Jung CJ; Chiu, Jen-Hwey JH; Hsu, Chih-Yi CY; Tseng, Ling-Ming LM
Publication Date: 2021-02-25

Variant appearance in text: BRCA2: R2520*
PubMed Link: 33632156
Variant Present in the following documents:
  • Main text
View BVdb publication page



K3326X and Other C-Terminal BRCA2 Variants Implicated in Hereditary Cancer Syndromes: A Review.

Cancers
Baughan, Scott S; Tainsky, Michael A MA
Publication Date: 2021-01-25

Variant appearance in text: BRCA2: R2520X
PubMed Link: 33503928
Variant Present in the following documents:
  • Main text
  • cancers-13-00447.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: BRCA2: 7558C>T; R2520*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: BRCA2: R2520*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s003.xlsx, sheet 1
View BVdb publication page



Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10

Variant appearance in text: BRCA2: 7558C>T; Arg2520*; rs80358981
PubMed Link: 33087929
Variant Present in the following documents:
  • 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Impact of mutations in homologous recombination repair genes on treatment outcomes for metastatic castration resistant prostate cancer.

Plos One
Carlson, Alexander S AS; Acevedo, Rigo I RI; Lim, Daniel M DM; Gulati, Roman R; Gawne, Agnes A; Sokolova, Alexandra O AO; Cheng, Heather H HH; Nelson, Peter S PS; Montgomery, R Bruce RB; Yu, Evan Y EY; Schweizer, Michael T MT
Publication Date: 2020

Variant appearance in text: BRCA2: Arg2520*
PubMed Link: 32997692
Variant Present in the following documents:
  • pone.0239686.s003.pdf
View BVdb publication page



Prevalence of pathogenic variants in DNA damage response and repair genes in patients undergoing cancer risk assessment and reporting a personal history of early-onset renal cancer.

Scientific Reports
Hartman, Tiffiney R TR; Demidova, Elena V EV; Lesh, Randy W RW; Hoang, Lily L; Richardson, Marcy M; Forman, Andrea A; Kessler, Lisa L; Speare, Virginia V; Golemis, Erica A EA; Hall, Michael J MJ; Daly, Mary B MB; Arora, Sanjeevani S
Publication Date: 2020-08-11

Variant appearance in text: BRCA2: 7558C>T; R2520*
PubMed Link: 32782288
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications.

International Journal Of Molecular Sciences
Brandão, Andreia A; Paulo, Paula P; Teixeira, Manuel R MR
Publication Date: 2020-07-16

Variant appearance in text: BRCA2: 7558C>T
PubMed Link: 32708810
Variant Present in the following documents:
  • ijms-21-05036-s001.pdf
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: BRCA2: 7558C>T; Arg2520*
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Actionable gene alterations in an Asian population with triple-negative breast cancer.

Jco Precision Oncology
Nagahashi, Masayuki M; Ling, YiWei Y; Hayashida, Tetsu T; Kitagawa, Yuko Y; Futamura, Manabu M; Yoshida, Kazuhiro K; Kuwayama, Takashi T; Nakamura, Seigo S; Toshikawa, Chie C; Yamauchi, Hideko H; Yamauchi, Teruo T; Kaneko, Koji K; Kanbayashi, Chizuko C; Sato, Nobuaki N; Miyoshi, Yasuo Y; Tsuchida, Junko J; Nakajima, Masato M; Shimada, Yoshifumi Y; Ichikawa, Hiroshi H; Lyle, Stephen S; Takabe, Kazuaki K; Okuda, Shujiro S; Wakai, Toshifumi T
Publication Date: 2018

Variant appearance in text: BRCA2: R2520X
PubMed Link: 32529167
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of gBRCA1/2 mutation locations with ovarian cancer risk in Japanese patients from the CHARLOTTE study.

Cancer Science
Yoshihara, Kosuke K; Enomoto, Takayuki T; Aoki, Daisuke D; Watanabe, Yoh Y; Kigawa, Junzo J; Takeshima, Nobuhiro N; Inomata, Hyoe H; Hattori, Kana K; Jinushi, Masahisa M; Tsuda, Hitoshi H; Sugiyama, Toru T
Publication Date: 2020-09

Variant appearance in text: BRCA2: R2520*
PubMed Link: 32495382
Variant Present in the following documents:
  • CAS-111-3350.pdf
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: 7558C>T; Arg2520X
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Evaluation of Germline Genetic Testing Criteria in a Hospital-Based Series of Women With Breast Cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Yadav, Siddhartha S; Hu, Chunling C; Hart, Steven N SN; Boddicker, Nicholas N; Polley, Eric C EC; Na, Jie J; Gnanaolivu, Rohan R; Lee, Kun Y KY; Lindstrom, Tricia T; Armasu, Sebastian S; Fitz-Gibbon, Patrick P; Ghosh, Karthik K; Stan, Daniela L DL; Pruthi, Sandhya S; Neal, Lonzetta L; Sandhu, Nicole N; Rhodes, Deborah J DJ; Klassen, Christine C; Peethambaram, Prema P PP; Haddad, Tufia C TC; Olson, Janet E JE; Hoskin, Tanya L TL; Goetz, Matthew P MP; Domchek, Susan M SM; Boughey, Judy C JC; Ruddy, Kathryn J KJ; Couch, Fergus J FJ
Publication Date: 2020-05-01

Variant appearance in text: BRCA2: Arg2520X
PubMed Link: 32125938
Variant Present in the following documents:
  • JCO.19.02190.pdf
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: BRCA2: 7558C>T
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Germline mutations in Thai patients with nonmucinous epithelial ovarian cancer.

World Journal Of Clinical Oncology
Manchana, Tarinee T; Phowthongkum, Prasit P; Teerapakpinyo, Chinachote C
Publication Date: 2019-11-24

Variant appearance in text: BRCA2: 7558C>T; Arg2520Ter
PubMed Link: 31815095
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and clinical characterization of BRCA-associated hereditary breast and ovarian cancer in Navarra (Spain).

Bmc Cancer
Ruiz de Sabando, Ainara A; Urrutia Lafuente, Edurne E; García-Amigot, Fermín F; Alonso Sánchez, Angel A; Morales Garofalo, Lourdes L; Moreno, Sira S; Ardanaz, Eva E; Ramos-Arroyo, Maria A MA
Publication Date: 2019-11-27

Variant appearance in text: BRCA2: 7558C>T
PubMed Link: 31771539
Variant Present in the following documents:
  • 12885_2019_Article_6277.pdf
View BVdb publication page



BRCA mutation in high grade epithelial ovarian cancers.

Gynecologic Oncology Reports
Manchana, Tarinee T; Phoolcharoen, Natacha N; Tantbirojn, Patou P
Publication Date: 2019-08

Variant appearance in text: BRCA2: Arg2520Ter
PubMed Link: 31467961
Variant Present in the following documents:
  • Main text
  • main.pdf
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: 7558C>T; Arg2520X
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Radiation-Induced Colitis in a Pancreatic Cancer Patient With a Germline BRCA2 Mutation: A Case Report.

Advances In Radiation Oncology
Wolfe, Adam R AR; Jain, Rishi R; Pawlik, Timothy M TM; Walker, Jon J; Williams, Terence M TM
Publication Date: 2019

Variant appearance in text: BRCA2: 7558C>T; R2520*
PubMed Link: 30706003
Variant Present in the following documents:
  • Main text
  • main.pdf
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: rs80358981
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s007.xlsx, sheet 2
  • IJC-145-962-s005.xlsx, sheet 1
  • IJC-145-962-s007.xlsx, sheet 4
View BVdb publication page



Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07

Variant appearance in text: BRCA2: R2520X; rs80358981
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Selective Pressures on Human Cancer Genes along the Evolution of Mammals.

Genes
Vicens, Alberto A; Posada, David D
Publication Date: 2018-11-28

Variant appearance in text: BRCA2: R2520*
PubMed Link: 30487452
Variant Present in the following documents:
  • Main text
View BVdb publication page



Defective DNA damage repair leads to frequent catastrophic genomic events in murine and human tumors.

Nature Communications
Ratnaparkhe, Manasi M; Wong, John K L JKL; Wei, Pei-Chi PC; Hlevnjak, Mario M; Kolb, Thorsten T; Simovic, Milena M; Haag, Daniel D; Paul, Yashna Y; Devens, Frauke F; Northcott, Paul P; Jones, David T W DTW; Kool, Marcel M; Jauch, Anna A; Pastorczak, Agata A; Mlynarski, Wojciech W; Korshunov, Andrey A; Kumar, Rajiv R; Downing, Susanna M SM; Pfister, Stefan M SM; Zapatka, Marc M; McKinnon, Peter J PJ; Alt, Frederick W FW; Lichter, Peter P; Ernst, Aurélie A
Publication Date: 2018-11-12

Variant appearance in text: BRCA2: 7558C>T
PubMed Link: 30420702
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_6925.pdf
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: BRCA2: 7558C>T; Arg2520*; rs80358981
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page