BRCA2 c.7007G>A ;(p.R2336H)

Variant ID: 13-32921033-G-A

NM_000059.3(BRCA2):c.7007G>A;(p.R2336H)

This variant was identified in 102 publications

View GRCh38 version.




Publications:


BRCA germline mutations in multiethnic gynecologic patients: A 10-year retrospective analysis from a single cancer institute.

Plos One
Wei, Christina H CH; Shehayeb, Susan S; Santiago, Nicole Lugo NL; Kruper, Laura L; Han, Ernest E; Wang, Edward E; Cristea, Mihaela M; Rodriguez-Rodriguez, Lorna L; Yost, Susan E SE; Stewart, Daphne D
Publication Date: 2023

Variant appearance in text: BRCA2: 7007G>A
PubMed Link: 37310942
Variant Present in the following documents:
  • pone.0286998.s001.pdf
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: 7007G>A; Arg2336His; rs28897743
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
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: BRCA2: R2336H
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: BRCA2: 7007G>A
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
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: 7007G>A; Arg2336His
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: R2336H; rs28897743
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: 7007G>A
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.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: rs28897743
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 3
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: 7007G>A
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 3
  • IJC-152-1159-s010.xlsx, sheet 6
  • IJC-152-1159-s011.xlsx, sheet 2
  • IJC-152-1159-s005.xlsx, sheet 2
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page



Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: BRCA2: 7007G>A; R2336H
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
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: 7007G>A
PubMed Link: 36203093
Variant Present in the following documents:
  • 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: BRCA2: 7007G>A; R2336H
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy.

Genes
Paduano, Francesco F; Colao, Emma E; Fabiani, Fernanda F; Rocca, Valentina V; Dinatolo, Francesca F; Dattola, Adele A; D'Antona, Lucia L; Amato, Rosario R; Trapasso, Francesco F; Baudi, Francesco F; Perrotti, Nicola N; Iuliano, Rodolfo R
Publication Date: 2022-07-21

Variant appearance in text: BRCA2: 7007G>A; Arg2336His; rs28897743
PubMed Link: 35886069
Variant Present in the following documents:
  • Main text
  • genes-13-01286.pdf
View BVdb publication page



Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Breast (Edinburgh, Scotland)
Bisgin, Atil A; Sag, Sebnem Ozemri SO; Dogan, Muhammet E ME; Yildirim, Mahmut S MS; Gumus, Aydeniz Aydin AA; Akkus, Nejmiye N; Balasar, Ozgur O; Durmaz, Ceren D CD; Eroz, Recep R; Altiner, Sule S; Alemdar, Adem A; Aliyeva, Lamia L; Boga, Ibrahim I; Cam, Fethi S FS; Dogan, Berkcan B; Esbah, Onur O; Hanta, Abdullah A; Mujde, Cem C; Ornek, Cemre C; Ozer, Sinem S; Rencuzogullari, Cagla C; Sonmezler, Ozge O; Bozdogan, Sevcan Tug ST; Dundar, Munis M; Temel, Sehime G SG
Publication Date: 2022-10

Variant appearance in text: BRCA2: R2336H
PubMed Link: 35753294
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
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: R2336H
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Functional RECAP (REpair CAPacity) assay identifies homologous recombination deficiency undetected by DNA-based BRCAness tests.

Oncogene
Meijer, Titia G TG; Nguyen, Luan L; Van Hoeck, Arne A; Sieuwerts, Anieta M AM; Verkaik, Nicole S NS; Ladan, Marjolijn M MM; Ruigrok-Ritstier, Kirsten K; van Deurzen, Carolien H M CHM; van de Werken, Harmen J G HJG; Lips, Esther H EH; Linn, Sabine C SC; Memari, Yasin Y; Davies, Helen H; Nik-Zainal, Serena S; Kanaar, Roland R; Martens, John W M JWM; Cuppen, Edwin E; Jager, Agnes A; van Gent, Dik C DC
Publication Date: 2022-06

Variant appearance in text: BRCA2: 7007G>A; Arg2336His
PubMed Link: 35662281
Variant Present in the following documents:
  • 41388_2022_2363_MOESM1_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: 7007G>A; Arg2336His
PubMed Link: 35585550
Variant Present in the following documents:
  • 13073_2022_1052_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer.

Frontiers In Oncology
Zhang, Jiayang J; Wang, Nan N; Zheng, Tiantian T; Lu, Tan T; Zhang, Ruyan R; Ran, Ran R; Li, Kun K; Huang, Yong Y; Xie, Feng F; Zhang, Yue Y; Jia, Shidong S; Yu, Jianjun J; Li, Huiping H
Publication Date: 2022

Variant appearance in text: BRCA2: Arg2336His
PubMed Link: 35494038
Variant Present in the following documents:
  • Main text
  • fonc-12-745796.pdf
View BVdb publication page



Genotype-phenotype and outcome associations in patients with Fanconi anemia: The National Cancer Institute cohort.

Haematologica
Altintas, Burak B; Giri, Neelam N; McReynolds, Lisa J LJ; Best, Ana A; Alter, Blanche P BP
Publication Date: 2022-04-14

Variant appearance in text: rs28897743
PubMed Link: 35417938
Variant Present in the following documents:
  • 2021_279981_ALTINTAS_TABLES_SUPPL.xlsx, sheet 2
View BVdb publication page



Spectrum of BRCA1/2 Mutations in Romanian Breast and Ovarian Cancer Patients.

International Journal Of Environmental Research And Public Health
Vidra, Radu R; Ciuleanu, Tudor Eliade TE; Nemeș, Adina A; Pascu, Oana O; Heroiu, Ana Maria AM; Antone, Nicoleta N; Vidrean, Andreea Iulia AI; Oprean, Cristina Marinela CM; Pop, Laura Ancuta LA; Berindan-Neagoe, Ioana I; Eniu, Rares R; Eniu, Alexandru A
Publication Date: 2022-04-04

Variant appearance in text: BRCA2: 7007G>A; Arg2336His
PubMed Link: 35409996
Variant Present in the following documents:
  • Main text
  • ijerph-19-04314.pdf
View BVdb publication page



Are transient protein-protein interactions more dispensable?

Plos Computational Biology
Ghadie, Mohamed Ali MA; Xia, Yu Y
Publication Date: 2022-04

Variant appearance in text: BRCA2: 7007G>A; Arg2336His
PubMed Link: 35404956
Variant Present in the following documents:
  • pcbi.1010013.s002.xlsx, sheet 4
View BVdb publication page



Frequency of BRCA1 and BRCA2 mutations in ovarian cancer patients in South-East Poland.

Hereditary Cancer In Clinical Practice
Jasiewicz, Andrzej A; Rudnicka, Helena H; Kluźniak, Wojciech W; Gronwald, Wojciech W; Kluz, Tomasz T; Cybulski, Cezary C; Jakubowska, Anna A; Lubiński, Jan J; Gronwald, Jacek J
Publication Date: 2022-04-05

Variant appearance in text: BRCA2: 7007G>A
PubMed Link: 35382848
Variant Present in the following documents:
  • 13053_2022_Article_219.pdf
View BVdb publication page



Biomarker-guided targeted therapy in platinum-resistant ovarian cancer (AMBITION; KGOG 3045): a multicentre, open-label, five-arm, uncontrolled, umbrella trial.

Journal Of Gynecologic Oncology
Lee, Jung-Yun JY; Kim, Byoung-Gie BG; Kim, Jae-Weon JW; Lee, Jung Bok JB; Park, Eunhyang E; Joung, Je-Gun JG; Kim, Sunghoon S; Choi, Chel Hun CH; Kim, Hee Seung HS; ,
Publication Date: 2022-07

Variant appearance in text: BRCA2: R2336H
PubMed Link: 35320892
Variant Present in the following documents:
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: 7007G>A; R2336H; rs28897743
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
  • CAS-113-1451-s001.pdf
View BVdb publication page



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: BRCA2: 7007G>A; Arg2336His
PubMed Link: 35171259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: BRCA2: 7007G>A; Arg2336His
PubMed Link: 35171259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel Insights From the Germline Landscape of Breast Cancer in Brazil.

Frontiers In Oncology
Barbalho, Daniel D; Sandoval, Renata R; Santos, Erika E; Pisani, Janina J; Quirino, Carla C; Garicochea, Bernardo B; Rossi, Benedito B; Achatz, Maria Isabel MI
Publication Date: 2021

Variant appearance in text: BRCA2: 7007G>A; Arg2336His
PubMed Link: 35155181
Variant Present in the following documents:
  • Main text
  • fonc-11-743231.pdf
View BVdb publication page



Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.

Bmc Cancer
Agha, Naela N; Alshamsan, Bader B; Al-Farsi, Sharifa S; Ateya, Heba Aly HA; Almugbel, Fahad A FA; Alotaibi, Hazem Abdullah HA; Omar, Ayman A; Mohamed, Amgad Shahin AS; Alharthy, Hanan H; Elhassan, Tusneem T; Salem, Hany H; Alhusaini, Hamed H
Publication Date: 2022-01-03

Variant appearance in text: BRCA2: Arg2336His
PubMed Link: 34980015
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_9123.pdf
View BVdb publication page



Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women.

Bmc Cancer
Agha, Naela N; Alshamsan, Bader B; Al-Farsi, Sharifa S; Ateya, Heba Aly HA; Almugbel, Fahad A FA; Alotaibi, Hazem Abdullah HA; Omar, Ayman A; Mohamed, Amgad Shahin AS; Alharthy, Hanan H; Elhassan, Tusneem T; Salem, Hany H; Alhusaini, Hamed H
Publication Date: 2022-01-03

Variant appearance in text: BRCA2: Arg2336His
PubMed Link: 34980015
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_9123.pdf
View BVdb publication page



Genetic heterogeneity during breast cancer progression in young patients.

Breast (Edinburgh, Scotland)
Hagio, Kanako K; Hatanaka, Kanako C KC; Amano, Toraji T; Matsuno, Yoshihiro Y; Hatanaka, Yutaka Y; Yamashita, Hiroko H
Publication Date: 2021-10-28

Variant appearance in text: BRCA2: R2336H
PubMed Link: 34736091
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic heterogeneity during breast cancer progression in young patients.

Breast (Edinburgh, Scotland)
Hagio, Kanako K; Hatanaka, Kanako C KC; Amano, Toraji T; Matsuno, Yoshihiro Y; Hatanaka, Yutaka Y; Yamashita, Hiroko H
Publication Date: 2021-12

Variant appearance in text: BRCA2: R2336H
PubMed Link: 34736091
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: BRCA2: R2336H
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Clinical consequences of BRCA2 hypomorphism.

Npj Breast Cancer
Castells-Roca, Laia L; Gutiérrez-Enríquez, Sara S; Bonache, Sandra S; Bogliolo, Massimo M; Carrasco, Estela E; Aza-Carmona, Miriam M; Montalban, Gemma G; Muñoz-Subirana, Núria N; Pujol, Roser R; Cruz, Cristina C; Llop-Guevara, Alba A; Ramírez, María J MJ; Saura, Cristina C; Lasa, Adriana A; Serra, Violeta V; Diez, Orland O; Balmaña, Judith J; Surrallés, Jordi J
Publication Date: 2021-09-09

Variant appearance in text: BRCA2: 7007G>A
PubMed Link: 34504103
Variant Present in the following documents:
  • Main text
  • 41523_2021_Article_322.pdf
View BVdb publication page



Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: BRCA2: 7007G>A; Arg2336His
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
View BVdb publication page



Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.

Scientific Reports
Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ
Publication Date: 2021-08-09

Variant appearance in text: BRCA2: R2336H
PubMed Link: 34373545
Variant Present in the following documents:
  • 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The Genetic Analyses of French Canadians of Quebec Facilitate the Characterization of New Cancer Predisposing Genes Implicated in Hereditary Breast and/or Ovarian Cancer Syndrome Families.

Cancers
Fierheller, Caitlin T CT; Alenezi, Wejdan M WM; Tonin, Patricia N PN
Publication Date: 2021-07-07

Variant appearance in text: BRCA2: 7007G>A; Arg2336His
PubMed Link: 34298626
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence and predictors of germline BRCA1 and BRCA2 mutations among young patients with breast cancer in Jordan.

Scientific Reports
Abdel-Razeq, Hikmat H; Abujamous, Lama L; Abunasser, Mahmoud M; Edaily, Sara S; Bater, Rayan R
Publication Date: 2021-07-21

Variant appearance in text: BRCA2: 7007G>A; Arg2336His
PubMed Link: 34290354
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_94403.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: 7007G>A; R2336H; rs28897743
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
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: R2336H
PubMed Link: 33691754
Variant Present in the following documents:
  • 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



BRCA1/2 pathogenic variants in triple-negative versus luminal-like breast cancers: genotype-phenotype correlation in a cohort of 531 patients.

Therapeutic Advances In Medical Oncology
Incorvaia, Lorena L; Fanale, Daniele D; Bono, Marco M; Calò, Valentina V; Fiorino, Alessia A; Brando, Chiara C; Corsini, Lidia Rita LR; Cutaia, Sofia S; Cancelliere, Daniela D; Pivetti, Alessia A; Filorizzo, Clarissa C; La Mantia, Maria M; Barraco, Nadia N; Cusenza, Stefania S; Badalamenti, Giuseppe G; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2020

Variant appearance in text: BRCA2: 7007G>A; Arg2336His
PubMed Link: 33403015
Variant Present in the following documents:
  • Main text
View BVdb publication page



A computational model for classification of BRCA2 variants using mouse embryonic stem cell-based functional assays.

Npj Genomic Medicine
Biswas, Kajal K; Lipton, Gary B GB; Stauffer, Stacey S; Sullivan, Teresa T; Cleveland, Linda L; Southon, Eileen E; Reid, Susan S; Magidson, Valentin V; Iversen, Edwin S ES; Sharan, Shyam K SK
Publication Date: 2020-12-08

Variant appearance in text: BRCA2: 7007G>A; R2336H
PubMed Link: 33293522
Variant Present in the following documents:
  • Main text
  • 41525_2020_Article_158.pdf
View BVdb publication page



Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.

Biomedicines
Stolarova, Lenka L; Jelinkova, Sandra S; Storchova, Radka R; Machackova, Eva E; Zemankova, Petra P; Vocka, Michal M; Kodet, Ondrej O; Kral, Jan J; Cerna, Marta M; Volkova, Zuzana Z; Janatova, Marketa M; Soukupova, Jana J; Stranecky, Viktor V; Dundr, Pavel P; Foretova, Lenka L; Macurek, Libor L; Kleiblova, Petra P; Kleibl, Zdenek Z
Publication Date: 2020-10-09

Variant appearance in text: BRCA2: 7007G>A; R2336H
PubMed Link: 33050356
Variant Present in the following documents:
  • Main text
  • biomedicines-08-00404.pdf
View BVdb publication page



Detection of Germline Mutations in a Cohort of 139 Patients with Bilateral Breast Cancer by Multi-Gene Panel Testing: Impact of Pathogenic Variants in Other Genes beyond BRCA1/2.

Cancers
Fanale, Daniele D; Incorvaia, Lorena L; Filorizzo, Clarissa C; Bono, Marco M; Fiorino, Alessia A; Calò, Valentina V; Brando, Chiara C; Corsini, Lidia Rita LR; Barraco, Nadia N; Badalamenti, Giuseppe G; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2020-08-25

Variant appearance in text: BRCA2: 7007G>A; Arg2336His
PubMed Link: 32854451
Variant Present in the following documents:
  • Main text
  • cancers-12-02415.pdf
View BVdb publication page



Degradation of 5hmC-marked stalled replication forks by APE1 causes genomic instability.

Science Signaling
Kharat, Suhas S SS; Ding, Xia X; Swaminathan, Divya D; Suresh, Akshey A; Singh, Manish M; Sengodan, Satheesh K SK; Burkett, Sandra S; Marks, Hanna H; Pamala, Chinmayi C; He, Yafeng Y; Fox, Stephen D SD; Buehler, Eugen C EC; Muegge, Kathrin K; Martin, Scott E SE; Sharan, Shyam K SK
Publication Date: 2020-08-18

Variant appearance in text: BRCA2: R2336H
PubMed Link: 32817374
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine
Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y
Publication Date: 2020-08-01

Variant appearance in text: BRCA2: R2336H
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.

Surgical Oncology
Lowder, Cinthya Y CY; Dhir, Teena T; Goetz, Austin B AB; Thomsett, Henry L HL; Bender, Joseph J; Tatarian, Talar T; Madhavan, Subha S; Petricoin, Emanuel F EF; Blais, Edik E; Lavu, Harish H; Winter, Jordan M JM; Posey, James J; Brody, Jonathan R JR; Pishvaian, Michael J MJ; Yeo, Charles J CJ
Publication Date: 2020-06

Variant appearance in text: BRCA2: R2336H
PubMed Link: 32561076
Variant Present in the following documents:
  • Main text
  • nihms-1621334.pdf
View BVdb publication page



Alternative mRNA splicing can attenuate the pathogenicity of presumed loss-of-function variants in BRCA2.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mesman, Romy L S RLS; Calléja, Fabienne M G R FMGR; de la Hoya, Miguel M; Devilee, Peter P; van Asperen, Christi J CJ; Vrieling, Harry H; Vreeswijk, Maaike P G MPG
Publication Date: 2020-08

Variant appearance in text: BRCA2: 7007G>A
PubMed Link: 32398771
Variant Present in the following documents:
  • Main text
  • 41436_2020_814_MOESM1_ESM.pdf
  • 41436_2020_Article_814.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: 7007G>A; Arg2336His
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Metastatic Thymoma Harboring a Deleterious BRCA2 Mutation Derives Durable Clinical Benefit from Olaparib.

The Oncologist
Principe, Daniel R DR; Kamath, Suneel D SD; Munshi, Hidayatullah G HG; Mohindra, Nisha A NA
Publication Date: 2020-04

Variant appearance in text: BRCA2: R2336H
PubMed Link: 32297440
Variant Present in the following documents:
  • Main text
View BVdb publication page



OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports
López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E
Publication Date: 2020-03-24

Variant appearance in text: BRCA2: R2336H
PubMed Link: 32210335
Variant Present in the following documents:
  • 41598_2020_62279_MOESM2_ESM.xlsx, sheet 33
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: Arg2336His
PubMed Link: 32125938
Variant Present in the following documents:
  • JCO.19.02190.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: BRCA2: R2336H
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.

Frontiers In Oncology
Oliver, Javier J; Quezada Urban, Rosalía R; Franco Cortés, Claudia Alejandra CA; Díaz Velásquez, Clara Estela CE; Montealegre Paez, Ana Lorena AL; Pacheco-Orozco, Rafael Adrián RA; Castro Rojas, Carlos C; García-Robles, Reggie R; López Rivera, Juan Javier JJ; Gaitán Chaparro, Sandra S; Gómez, Ana Milena AM; Suarez Obando, Fernando F; Giraldo, Gustavo G; Maya, Maria Isabel MI; Hurtado-Villa, Paula P; Sanchez, Ana Isabel AI; Serrano, Norma N; Orduz Galvis, Ana Isabel AI; Aruachan, Sandra S; Nuñez Castillo, Johanna J; Frecha, Cecilia C; Riggi, Cecilia C; Jauk, Federico F; Gómez García, Eva María EM; Carranza, Claudia Lorena CL; Zamora, Vanessa V; Torres Mejía, Gabriela G; Romieu, Isabelle I; Castañeda, Carlos Arturo CA; Castillo, Miluska M; Gitler, Rina R; Antoniano, Adriana A; Rojas Jiménez, Ernesto E; Romero Cruz, Luis Enrique LE; Vallejo Lecuona, Fernando F; Delgado Enciso, Iván I; Martínez Rizo, Abril Bernardette AB; Flores Carranza, Alejandro A; Benites Godinez, Verónica V; Méndez Catalá, Claudia Fabiola CF; Herrera, Luis Alonso LA; Chirino, Yolanda Irasema YI; Terrazas, Luis Ignacio LI; Perdomo, Sandra S; Vaca Paniagua, Felipe F
Publication Date: 2019

Variant appearance in text: BRCA2: R2336H
PubMed Link: 31921681
Variant Present in the following documents:
  • Main text
  • fonc-09-01429.pdf
View BVdb publication page