BRCA2 c.-26G>A

Variant ID: 13-32890572-G-A

NM_000059.3(BRCA2):c.-26G>A

This variant was identified in 52 publications

View GRCh38 version.




Publications:


A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances
Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T
Publication Date: 2023

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 37215953
Variant Present in the following documents:
  • vdad043_suppl_supplementary_tables.xlsx, sheet 1
View BVdb publication page



Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: -26G>A; rs1799943
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs1799943
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs1799943
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports
Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL
Publication Date: 2021-09

Variant appearance in text: rs1799943
PubMed Link: 34295994
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline and Somatic mutations in postmenopausal breast cancer patients.

Clinics (Sao Paulo, Brazil)
Nagy, Tauana Rodrigues TR; Maistro, Simone S; Encinas, Giselly G; Katayama, Maria Lucia Hirata MLH; Pereira, Glaucia Fernanda de Lima GFL; Gaburo-Júnior, Nelson N; Franco, Lucas Augusto Moyses LAM; Gouvêa, Ana Carolina Ribeiro Chaves de ACRC; Diz, Maria Del Pilar Estevez MDPE; Leite, Luiz Antonio Senna LAS; Folgueira, Maria Aparecida Azevedo Koike MAAK
Publication Date: 2021

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 34287479
Variant Present in the following documents:
  • Main text
  • cln-76-2837.pdf
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



BRCA2 3'-UTR Polymorphism rs15869 Alters Susceptibility to Papillary Thyroid Carcinoma via Binding hsa-mir-1178-3p.

Pharmacogenomics And Personalized Medicine
Guo, Nan N; Qu, Peng P; Li, Hao H; Liu, Liuli L; Jin, Hao H; Liu, Renqi R; Zhang, Zhen Z; Zhang, Xuan X; Li, Yingchun Y; Lu, Xiaobo X; Zhao, Yuejiao Y
Publication Date: 2021

Variant appearance in text: rs1799943
PubMed Link: 33986610
Variant Present in the following documents:
  • Main text
View BVdb publication page



Microsecond-timescale MD simulation of EGFR minor mutation predicts the structural flexibility of EGFR kinase core that reflects EGFR inhibitor sensitivity.

Npj Precision Oncology
Yoshizawa, Takahiro T; Uchibori, Ken K; Araki, Mitsugu M; Matsumoto, Shigeyuki S; Ma, Biao B; Kanada, Ryo R; Seto, Yosuke Y; Oh-Hara, Tomoko T; Koike, Sumie S; Ariyasu, Ryo R; Kitazono, Satoru S; Ninomiya, Hironori H; Takeuchi, Kengo K; Yanagitani, Noriko N; Takagi, Satoshi S; Kishi, Kazuma K; Fujita, Naoya N; Okuno, Yasushi Y; Nishio, Makoto M; Katayama, Ryohei R
Publication Date: 2021-04-16

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 33863983
Variant Present in the following documents:
  • 41698_2021_170_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports
von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I
Publication Date: 2021-03-05

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Globally Rare BRCA2 Variants With Founder Haplotypes in the South African Population: Implications for Point-of-Care Testing Based on a Single-Institution BRCA1/2 Next-Generation Sequencing Study.

Frontiers In Oncology
Oosthuizen, Jaco J; Kotze, Maritha J MJ; Van Der Merwe, Nicole N; Myburgh, Ettienne J EJ; Bester, Phillip P; van der Merwe, Nerina C NC
Publication Date: 2020

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 33643918
Variant Present in the following documents:
  • Main text
  • fonc-10-619469.pdf
View BVdb publication page



Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon.

Genes
Dobbin, Elizabeth Ayres Fragoso EAF; Medeiros, Jéssyca Amanda Gomes JAG; Costa, Marta Solange Camarinha Ramos MSCR; Rodrigues, Juliana Carla Gomes JCG; Guerreiro, João Farias JF; Kroll, José Eduardo JE; Souza, Sandro José de SJ; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Ândrea Â; Santos, Sidney Emanuel Batista Dos SEBD; Burbano, Rommel Mario Rodríguez RMR; Fernandes, Marianne Rodrigues MR; Santos, Ney Pereira Carneiro Dos NPCD
Publication Date: 2021-01-22

Variant appearance in text: rs1799943
PubMed Link: 33499154
Variant Present in the following documents:
  • Main text
  • genes-12-00142.pdf
View BVdb publication page



EBF1 drives hallmark B cell gene expression by enabling the interaction of PAX5 with the MLL H3K4 methyltransferase complex.

Scientific Reports
Bullerwell, Charles E CE; Robichaud, Philippe Pierre PP; Deprez, Pierre M L PML; Joy, Andrew P AP; Wajnberg, Gabriel G; D'Souza, Darwin D; Chacko, Simi S; Fournier, Sébastien S; Crapoulet, Nicolas N; Barnett, David A DA; Lewis, Stephen M SM; Ouellette, Rodney J RJ
Publication Date: 2021-01-15

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 33452395
Variant Present in the following documents:
  • 41598_2021_81000_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



BRCA1 and BRCA2 mutations in a sample of breast and ovarian cancer families from the Colombian pacific.

Colombia Medica (Cali, Colombia)
Cifuentes-C, Laura L; Rivera-Herrera, Ana Lucia AL; Barreto, Guillermo G
Publication Date: 2019-09-30

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 32284662
Variant Present in the following documents:
  • Main text
  • 1657-9534-cm-50-03-00163.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 2
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 2
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 2
View BVdb publication page



Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30

Variant appearance in text: rs1799943
PubMed Link: 31470906
Variant Present in the following documents:
  • 40478_2019_793_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Analysis of the pathogenic variants of BRCA1 and BRCA2 using next-generation sequencing in women with familial breast cancer: a case-control study.

Bmc Cancer
Zayas-Villanueva, Omar Alejandro OA; Campos-Acevedo, Luis Daniel LD; Lugo-Trampe, José de Jesús JJ; Hernández-Barajas, David D; González-Guerrero, Juan Francisco JF; Noriega-Iriondo, María Fernanda MF; Ramírez-Sánchez, Ilse Alejandra IA; Martínez-de-Villarreal, Laura Elia LE
Publication Date: 2019-07-22

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 31331294
Variant Present in the following documents:
  • 12885_2019_5950_MOESM1_ESM.xlsx, sheet 1
  • 12885_2019_5950_MOESM1_ESM.xlsx, sheet 3
  • 12885_2019_5950_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

Human Genomics
Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A
Publication Date: 2019-01-10

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 30630528
Variant Present in the following documents:
  • 40246_2018_188_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.

Prostate Cancer And Prostatic Diseases
Petrovics, Gyorgy G; Price, Douglas K DK; Lou, Hong H; Chen, Yongmei Y; Garland, Lisa L; Bass, Sara S; Jones, Kristine K; Kohaar, Indu I; Ali, Amina A; Ravindranath, Lakshmi L; Young, Denise D; Cullen, Jennifer J; Dorsey, Tiffany H TH; Sesterhenn, Isabell A IA; Brassell, Stephen A SA; Rosner, Inger L IL; Ross, Doug D; Dahut, William W; Ambs, Stefan S; Figg, William Douglas WD; Srivastava, Shiv S; Dean, Michael M
Publication Date: 2019-09

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 30542053
Variant Present in the following documents:
  • 41391_2018_114_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 6
View BVdb publication page



Somatic mutations in early onset luminal breast cancer.

Oncotarget
Encinas, Giselly G; Sabelnykova, Veronica Y VY; de Lyra, Eduardo Carneiro EC; Hirata Katayama, Maria Lucia ML; Maistro, Simone S; de Vasconcellos Valle, Pedro Wilson Mompean PWM; de Lima Pereira, Gláucia Fernanda GF; Rodrigues, Lívia Munhoz LM; de Menezes Pacheco Serio, Pedro Adolpho PA; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Geyer, Felipe Correa FC; Basso, Ricardo Alves RA; Pasini, Fátima Solange FS; Del Pilar Esteves Diz, Maria M; Brentani, Maria Mitzi MM; Guedes Sampaio Góes, João Carlos JC; Chammas, Roger R; Boutros, Paul C PC; Koike Folgueira, Maria Aparecida Azevedo MAA
Publication Date: 2018-04-27

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 29854292
Variant Present in the following documents:
  • oncotarget-09-22460-s002.xlsx, sheet 3
View BVdb publication page



Germline mutation in the TP53 gene in uveal melanoma.

Scientific Reports
Hajkova, Nikola N; Hojny, Jan J; Nemejcova, Kristyna K; Dundr, Pavel P; Ulrych, Jan J; Jirsova, Katerina K; Glezgova, Johana J; Ticha, Ivana I
Publication Date: 2018-05-16

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 29769598
Variant Present in the following documents:
  • 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Human Mutation
Colombo, Mara M; Lòpez-Perolio, Irene I; Meeks, Huong D HD; Caleca, Laura L; Parsons, Michael T MT; Li, Hongyan H; De Vecchi, Giovanna G; Tudini, Emma E; Foglia, Claudia C; Mondini, Patrizia P; Manoukian, Siranoush S; Behar, Raquel R; Garcia, Encarna B Gómez EBG; Meindl, Alfons A; Montagna, Marco M; Niederacher, Dieter D; Schmidt, Ane Y AY; Varesco, Liliana L; Wappenschmidt, Barbara B; Bolla, Manjeet K MK; Dennis, Joe J; Michailidou, Kyriaki K; Wang, Qin Q; Aittomäki, Kristiina K; Andrulis, Irene L IL; Anton-Culver, Hoda H; Arndt, Volker V; Beckmann, Matthias W MW; Beeghly-Fadel, Alicia A; Benitez, Javier J; Boeckx, Bram B; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bonanni, Bernardo B; Brauch, Hiltrud H; Brenner, Hermann H; Burwinkel, Barbara B; Chang-Claude, Jenny J; Conroy, Don M DM; Couch, Fergus J FJ; Cox, Angela A; Cross, Simon S SS; Czene, Kamila K; Devilee, Peter P; Dörk, Thilo T; Eriksson, Mikael M; Fasching, Peter A PA; Figueroa, Jonine J; Fletcher, Olivia O; Flyger, Henrik H; Gabrielson, Marike M; García-Closas, Montserrat M; Giles, Graham G GG; González-Neira, Anna A; Guénel, Pascal P; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Hartman, Mikael M; Hauke, Jan J; Hollestelle, Antoinette A; Hopper, John L JL; Jakubowska, Anna A; Jung, Audrey A; Kosma, Veli-Matti VM; Lambrechts, Diether D; Le Marchand, Loid L; Lindblom, Annika A; Lubinski, Jan J; Mannermaa, Arto A; Margolin, Sara S; Miao, Hui H; Milne, Roger L RL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Olson, Janet E JE; Peterlongo, Paolo P; Peto, Julian J; Pylkäs, Katri K; Sawyer, Elinor J EJ; Schmidt, Marjanka K MK; Schmutzler, Rita K RK; Schneeweiss, Andreas A; Schoemaker, Minouk J MJ; See, Mee Hoong MH; Southey, Melissa C MC; Swerdlow, Anthony A; Teo, Soo H SH; Toland, Amanda E AE; Tomlinson, Ian I; Truong, Thérèse T; van Asperen, Christi J CJ; van den Ouweland, Ans M W AMW; van der Kolk, Lizet E LE; Winqvist, Robert R; Yannoukakos, Drakoulis D; Zheng, Wei W; , ; Dunning, Alison M AM; Easton, Douglas F DF; Henderson, Alex A; Hogervorst, Frans B L FBL; Izatt, Louise L; Offitt, Kenneth K; Side, Lucy E LE; van Rensburg, Elizabeth J EJ; Embrace, Study S; Hebon, Study S; McGuffog, Lesley L; Antoniou, Antonis C AC; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Goldgar, David E DE; Hoya, Miguel de la M; Radice, Paolo P
Publication Date: 2018-05

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 29460995
Variant Present in the following documents:
  • Main text
  • HUMU-39-729.pdf
View BVdb publication page



Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 29449315
Variant Present in the following documents:
  • supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1
View BVdb publication page



Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.

Molecular Genetics & Genomic Medicine
Buleje, Jose J; Guevara-Fujita, Maria M; Acosta, Oscar O; Huaman, Francia D P FDP; Danos, Pierina P; Murillo, Alexis A; Pinto, Joseph A JA; Araujo, Jhajaira M JM; Aguilar, Alfredo A; Ponce, Jaime J; Vigil, Carlos C; Castaneda, Carlos C; Calderon, Gabriela G; Gomez, Henry L HL; Fujita, Ricardo R
Publication Date: 2017-09

Variant appearance in text: rs1799943
PubMed Link: 28944232
Variant Present in the following documents:
  • Main text
  • MGG3-5-481.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1799943
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs1799943
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
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Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.

Plos One
Kim, Yeong C YC; Soliman, Amr S AS; Cui, Jian J; Ramadan, Mohamed M; Hablas, Ahmed A; Abouelhoda, Mohamed M; Hussien, Nehal N; Ahmed, Ola O; Zekri, Abdel-Rahman Nabawy AN; Seifeldin, Ibrahim A IA; Wang, San Ming SM
Publication Date: 2017

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 28076423
Variant Present in the following documents:
  • Main text
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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs1799943
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Human Genomics
Karageorgos, Ioannis I; Mizzi, Clint C; Giannopoulou, Efstathia E; Pavlidis, Cristiana C; Peters, Brock A BA; Zagoriti, Zoi Z; Stenson, Peter D PD; Mitropoulos, Konstantinos K; Borg, Joseph J; Kalofonos, Haralabos P HP; Drmanac, Radoje R; Stubbs, Andrew A; van der Spek, Peter P; Cooper, David N DN; Katsila, Theodora T; Patrinos, George P GP
Publication Date: 2015-06-20

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 26092435
Variant Present in the following documents:
  • 40246_2015_34_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Bmc Medical Genomics
Kluska, Anna A; Balabas, Aneta A; Paziewska, Agnieszka A; Kulecka, Maria M; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J
Publication Date: 2015-05-07

Variant appearance in text: rs1799943
PubMed Link: 25948282
Variant Present in the following documents:
  • 12920_2015_92_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Role of genetic & environment risk factors in the aetiology of colorectal cancer in Malaysia.

The Indian Journal Of Medical Research
Ramzi, Nurul Hanis NH; Chahil, Jagdish Kaur JK; Lye, Say Hean SH; Munretnam, Khamsigan K; Sahadevappa, Kavitha Itagi KI; Velapasamy, Sharmila S; Hashim, Nikman Adli Nor NA; Cheah, Soon Keat SK; Lim, Gerard Chin Chye GC; Hussein, Heselynn H; Haron, Mohd Roslan MR; Alex, Livy L; Ler, Lian Wee LW
Publication Date: 2014-06

Variant appearance in text: rs1799943
PubMed Link: 25109722
Variant Present in the following documents:
  • IJMR-139-873.pdf
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BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families.

Bmc Medical Genetics
Berzina, Dace D; Nakazawa-Miklasevica, Miki M; Zestkova, Jekaterina J; Aksenoka, Karina K; Irmejs, Arvids A; Gardovskis, Andris A; Kalniete, Dagnija D; Gardovskis, Janis J; Miklasevics, Edvins E
Publication Date: 2013-06-14

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 23767878
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-61.pdf
View BVdb publication page



Assessing SNP-SNP interactions among DNA repair, modification and metabolism related pathway genes in breast cancer susceptibility.

Plos One
Sapkota, Yadav Y; Mackey, John R JR; Lai, Raymond R; Franco-Villalobos, Conrado C; Lupichuk, Sasha S; Robson, Paula J PJ; Kopciuk, Karen K; Cass, Carol E CE; Yasui, Yutaka Y; Damaraju, Sambasivarao S
Publication Date: 2014

Variant appearance in text: rs1799943
PubMed Link: 23755158
Variant Present in the following documents:
  • Main text
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Genetic polymorphisms of DNA double-strand break repair pathway genes and glioma susceptibility.

Bmc Cancer
Zhao, Peng P; Zou, Peng P; Zhao, Lin L; Yan, Wei W; Kang, Chunsheng C; Jiang, Tao T; You, Yongping Y
Publication Date: 2013-05-10

Variant appearance in text: rs1799943
PubMed Link: 23663450
Variant Present in the following documents:
  • Main text
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BRCA2 variants and cardiovascular disease in a multi-ethnic study.

Bmc Medical Genetics
Zbuk, Kevin K; Xie, Changchun C; Young, Robin R; Heydarpour, Mahyar M; Pare, Guillaume G; Davis, A Darlene AD; Miller, Ruby R; Lanktree, Matthew B MB; Saleheen, Danish D; Danesh, John J; Yusuf, Salim S; Engert, James C JC; Hegele, Robert A RA; Anand, Sonia S SS
Publication Date: 2012-07-18

Variant appearance in text: rs1799943
PubMed Link: 22809218
Variant Present in the following documents:
  • Main text
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Effects of BRCA2 cis-regulation in normal breast and cancer risk amongst BRCA2 mutation carriers.

Breast Cancer Research : Bcr
Maia, Ana-Teresa AT; Antoniou, Antonis C AC; O'Reilly, Martin M; Samarajiwa, Shamith S; Dunning, Mark M; Kartsonaki, Christiana C; Chin, Suet-Feung SF; Curtis, Christina N CN; McGuffog, Lesley L; Domchek, Susan M SM; , ; Easton, Douglas F DF; Peock, Susan S; Frost, Debra D; Evans, D Gareth DG; Eeles, Ros R; Izatt, Louise L; Adlard, Julian J; Eccles, Diana D; , ; Sinilnikova, Olga M OM; Mazoyer, Sylvie S; Stoppa-Lyonnet, Dominique D; Gauthier-Villars, Marion M; Faivre, Laurence L; Venat-Bouvet, Laurence L; Delnatte, Capucine C; Nevanlinna, Heli H; Couch, Fergus J FJ; Godwin, Andrew K AK; Caligo, Maria Adelaide MA; , ; Barkardottir, Rosa B RB; , ; Chen, Xiaoqing X; Beesley, Jonathan J; Healey, Sue S; Caldas, Carlos C; Chenevix-Trench, Georgia G; Ponder, Bruce A J BA
Publication Date: 2012-04-18

Variant appearance in text: rs1799943
PubMed Link: 22513257
Variant Present in the following documents:
  • Main text
View BVdb publication page



An entire exon 3 germ-line rearrangement in the BRCA2 gene: pathogenic relevance of exon 3 deletion in breast cancer predisposition.

Bmc Medical Genetics
Muller, Danièle D; Rouleau, Etienne E; Schultz, Inès I; Caputo, Sandrine S; Lefol, Cédrick C; Bièche, Ivan I; Caron, Olivier O; Noguès, Catherine C; Limacher, Jean Marc JM; Demange, Liliane L; Lidereau, Rosette R; Fricker, Jean Pierre JP; Abecassis, Joseph J
Publication Date: 2011-09-22

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 21939546
Variant Present in the following documents:
  • Main text
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A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

Bmc Cancer
Hondow, Heather L HL; Fox, Stephen B SB; Mitchell, Gillian G; Scott, Rodney J RJ; Beshay, Victoria V; Wong, Stephen Q SQ; , ; Dobrovic, Alexander A
Publication Date: 2011-06-24

Variant appearance in text: BRCA2: -26G>A; rs1799943
PubMed Link: 21702907
Variant Present in the following documents:
  • Main text
  • 1471-2407-11-265.pdf
View BVdb publication page



Risk of contralateral breast cancer associated with common variants in BRCA1 and BRCA2: potential modifying effect of BRCA1/BRCA2 mutation carrier status.

Breast Cancer Research And Treatment
Figueiredo, Jane C JC; Brooks, Jennifer D JD; Conti, David V DV; Poynter, Jenny N JN; Teraoka, Sharon N SN; Malone, Kathleen E KE; Bernstein, Leslie L; Lee, Won D WD; Duggan, David J DJ; Siniard, Ashley A; Concannon, Patrick P; Capanu, Marinela M; Lynch, Charles F CF; Olsen, Jørgen H JH; Haile, Robert W RW; Bernstein, Jonine L JL
Publication Date: 2011-06

Variant appearance in text: rs1799943
PubMed Link: 21161372
Variant Present in the following documents:
  • Main text
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Genotyping of frequent BRCA1/2 SNPs with unlabeled probes: a supplement to HRMCA mutation scanning, allowing the strong reduction of sequencing burden.

The Journal Of Molecular Diagnostics : Jmd
De Leeneer, Kim K; Coene, Ilse I; Poppe, Bruce B; De Paepe, Anne A; Claes, Kathleen K
Publication Date: 2009-09

Variant appearance in text: rs1799943
PubMed Link: 19644020
Variant Present in the following documents:
  • Main text
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Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Sehl, Mary E ME; Langer, Lucy R LR; Papp, Jeanette C JC; Kwan, Lorna L; Seldon, Joyce L JL; Arellano, Geovanni G; Reiss, Jean J; Reed, Elaine F EF; Dandekar, Sugandha S; Korin, Yael Y; Sinsheimer, Janet S JS; Zhang, Zuo-Feng ZF; Ganz, Patricia A PA
Publication Date: 2009-03-15

Variant appearance in text: rs1799943
PubMed Link: 19276285
Variant Present in the following documents:
  • Main text
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Common variants in immune and DNA repair genes and risk for human papillomavirus persistence and progression to cervical cancer.

The Journal Of Infectious Diseases
Wang, Sophia S SS; Bratti, M Concepcion MC; Rodríguez, Ana Cecilia AC; Herrero, Rolando R; Burk, Robert D RD; Porras, Carolina C; González, Paula P; Sherman, Mark E ME; Wacholder, Sholom S; Lan, Z Elizabeth ZE; Schiffman, Mark M; Chanock, Stephen J SJ; Hildesheim, Allan A
Publication Date: 2009-01-01

Variant appearance in text: rs1799943
PubMed Link: 19012493
Variant Present in the following documents:
  • Main text
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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics
Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W
Publication Date: 2008-06-11

Variant appearance in text: rs1799943
PubMed Link: 18547414
Variant Present in the following documents:
  • 1755-8794-1-24-S1.xls, sheet 1
View BVdb publication page



Implication of BRCA2 -26G>A 5' untranslated region polymorphism in susceptibility to sporadic breast cancer and its modulation by p53 codon 72 Arg>Pro polymorphism.

Breast Cancer Research : Bcr
Gochhait, Sailesh S; Bukhari, Syed Irfan Ahmad SI; Bairwa, Narendra N; Vadhera, Shivani S; Darvishi, Katayoon K; Raish, Mohammad M; Gupta, Pawan P; Husain, Syed Akhtar SA; Bamezai, Rameshwar N K RN
Publication Date: 2007

Variant appearance in text: rs1799943
PubMed Link: 17945002
Variant Present in the following documents:
  • Main text
  • bcr1780.pdf
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Haplotype and linkage disequilibrium architecture for human cancer-associated genes.

Genome Research
Bonnen, Penelope E PE; Wang, Peggy J PJ; Kimmel, Marek M; Chakraborty, Ranajit R; Nelson, David L DL
Publication Date: 2002-12

Variant appearance in text: rs1799943
PubMed Link: 12466288
Variant Present in the following documents:
  • Main text
View BVdb publication page