BRCA2 c.3807T>G ;(p.V1269=)

Variant ID: 13-32912299-T-G

NM_000059.3(BRCA2):c.3807T>G;(p.V1269=)

This variant was identified in 78 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: BRCA2: V1269V; rs543304
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
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: V1269V; rs543304
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Decellularized extracellular matrix as scaffold for cancer organoid cultures of colorectal peritoneal metastases.

Journal Of Molecular Cell Biology
Varinelli, Luca L; Guaglio, Marcello M; Brich, Silvia S; Zanutto, Susanna S; Belfiore, Antonino A; Zanardi, Federica F; Iannelli, Fabio F; Oldani, Amanda A; Costa, Elisa E; Chighizola, Matteo M; Lorenc, Ewelina E; Minardi, Simone P SP; Fortuzzi, Stefano S; Filugelli, Martina M; Garzone, Giovanna G; Pisati, Federica F; Vecchi, Manuela M; Pruneri, Giancarlo G; Kusamura, Shigeki S; Baratti, Dario D; Cattaneo, Laura L; Parazzoli, Dario D; Podestà, Alessandro A; Milione, Massimo M; Deraco, Marcello M; Pierotti, Marco A MA; Gariboldi, Manuela M
Publication Date: 2022-12-02

Variant appearance in text: BRCA2: V1269V
PubMed Link: 36460033
Variant Present in the following documents:
  • mjac064_supplemental_file.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: 3807T>G; rs543304
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
View BVdb publication page



Familial history and prevalence of BRCA1, BRCA2 and TP53 pathogenic variants in HBOC Brazilian patients from a public healthcare service.

Scientific Reports
Matta, Bruna Palma BP; Gomes, Renan R; Mattos, Daniel D; Olicio, Renata R; Nascimento, Caroline Macedo CM; Ferreira, Gerson Moura GM; Brant, Ayslan Castro AC; Boroni, Mariana M; Furtado, Carolina C; Lima, Valdirene V; Moreira, Miguel Ângelo Martins MÂM; Dos Santos, Anna Cláudia Evangelista ACE
Publication Date: 2022-11-03

Variant appearance in text: BRCA2: Val1269=; rs543304
PubMed Link: 36329109
Variant Present in the following documents:
  • 41598_2022_23012_MOESM2_ESM.xlsx, sheet 1
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: BRCA2: V1269V; rs543304
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.

Frontiers In Molecular Biosciences
Ng, Cedric Chuan-Young CC; Lim, Sandy S; Lim, Abner Herbert AH; Md Nasir, Nur Diyana ND; Zhang, Jingxian J; Rajasegaran, Vikneswari V; Lee, Jing Yi JY; Kok, Jessica Sook Ting JST; Thike, Aye Aye AA; Lim, Johnathan Xiande JX; Weng, Ruifen R; Yee, Sidney S; Choudhury, Yukti Y; Chan, Jason Yongsheng JY; Tan, Puay Hoon PH; Tan, Min-Han MH; Teh, Bin Tean BT
Publication Date: 2022

Variant appearance in text: rs543304
PubMed Link: 36213130
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 10
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: Val1269Val; rs543304
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Genetic Variants in Double-Strand Break Repair Pathway Genes to Predict Platinum-Based Chemotherapy Prognosis in Patients With Lung Cancer.

Frontiers In Pharmacology
Liu, Jun-Yan JY; Zou, Ting T; Yin, Ji-Ye JY; Wang, Zhan Z; Liu, Chong C; Huang, Han-Xue HX; Ding, Fei-Xiang FX; Lei, Meng-Rong MR; Wang, Ying Y; Liu, Min M; Liu, Zhao-Qian ZQ; Tan, Li-Ming LM; Chen, Juan J
Publication Date: 2022

Variant appearance in text: rs543304
PubMed Link: 35899106
Variant Present in the following documents:
  • Main text
  • fphar-13-915822.pdf
View BVdb publication page



Identification of the c.829_832delAATA Deletion Variants in the BRCA1 Gene Associated with Hereditary Breast/Ovarian Cancer - Case Report.

Journal Of Genomics
Ostrowska, Malgorzata M; Olszewska-Bozek, Karolina K; Podlodowska, Justyna J; Sierocinska-Sawa, Jadwiga J; Wojcierowski, Jacek J
Publication Date: 2022

Variant appearance in text: BRCA2: Val1269=; rs543304
PubMed Link: 35300046
Variant Present in the following documents:
  • jgenv10p0033.pdf
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: BRCA2: Val1269=; rs543304
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
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: V1269V; rs543304
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.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: rs543304
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: V1269=; rs543304
PubMed Link: 34287479
Variant Present in the following documents:
  • Main text
  • cln-76-2837.pdf
View BVdb publication page



Next-generation sequencing of BRCA1 and BRCA2 genes in Moroccan prostate cancer patients with positive family history.

Plos One
Salmi, Fatiha F; Maachi, Fatima F; Tazzite, Amal A; Aboutaib, Rachid R; Fekkak, Jamal J; Azeddoug, Houssine H; Jouhadi, Hassan H
Publication Date: 2021

Variant appearance in text: BRCA2: Val1269=
PubMed Link: 34242281
Variant Present in the following documents:
  • pone.0254101.s001.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: BRCA2: V1269V; rs543304
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: BRCA2: Val1269Val; rs543304
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.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: Val1269=; rs543304
PubMed Link: 33674644
Variant Present in the following documents:
  • 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Photomutagenicity of chlorpromazine and its N-demethylated metabolites assessed by NGS.

Scientific Reports
Agúndez, José A G JAG; García-Martín, Elena E; García-Lainez, Guillermo G; Miranda, Miguel A MA; Andreu, Inmaculada I
Publication Date: 2020-04-23

Variant appearance in text: rs543304
PubMed Link: 32327675
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_63651.pdf
View BVdb publication page



Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene
Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N
Publication Date: 2020-05

Variant appearance in text: BRCA2: V1269V; rs543304
PubMed Link: 32300177
Variant Present in the following documents:
  • 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Journal Of Cellular And Molecular Medicine
Wu, Nan N; Zhang, Zhen Z; Zhou, Xi X; Zhao, Hengqiang H; Ming, Yue Y; Wu, Xue X; Zhang, Xian X; Yang, Xin-Zhuang XZ; Zhou, Meng M; Bao, Hua H; Chen, Weisheng W; Wu, Yong Y; Liu, Sen S; Wang, Huizi H; Niu, Yuchen Y; Li, Yalun Y; Zheng, Yu Y; Shao, Yang Y; Gao, Na N; Yang, Ying Y; Liu, Ying Y; Li, Wenli W; Liu, Jia J; Zhang, Na N; Yang, Xu X; Xu, Yuan Y; Li, Mei M; Sun, Yingli Y; Su, Jianzhong J; Zhang, Jianguo J; Xia, Weibo W; Qiu, Guixing G; Liu, Yong Y; Liu, Jiaqi J; Wu, Zhihong Z
Publication Date: 2020-05

Variant appearance in text: BRCA2: Val1269=
PubMed Link: 32277576
Variant Present in the following documents:
  • JCMM-24-4931-s010.xlsx, sheet 1
View BVdb publication page



Impressive effect of cisplatin monotherapy on a patient with heavily pretreated triple-negative breast cancer with poor performance.

Yeungnam University Journal Of Medicine
Baek, Dong Won DW; Park, Ji-Young JY; Lee, Soo Jung SJ; Chae, Yee Soo YS
Publication Date: 2020-07

Variant appearance in text: BRCA2: Val1269=; rs543304
PubMed Link: 31962039
Variant Present in the following documents:
  • Main text
  • yujm-2019-00423.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: Val1269=; rs543304
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: BRCA2: V1269V; rs543304
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: Val1269=; rs543304
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



Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family.

Plos One
Shoji, Tetsuaki T; Konno, Satoshi S; Niida, Yo Y; Ogi, Takahiro T; Suzuki, Masaru M; Shimizu, Kaoruko K; Hida, Yasuhiro Y; Kaga, Kichizo K; Seyama, Kuniaki K; Naka, Tomoaki T; Matsuno, Yoshihiro Y; Nishimura, Masaharu M
Publication Date: 2019

Variant appearance in text: BRCA2: Val1269Val
PubMed Link: 30794603
Variant Present in the following documents:
  • pone.0212370.s008.xlsx, sheet 1
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: rs543304
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s005.xlsx, sheet 1
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: Val1269Val; rs543304
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: Val1269Val; rs543304
PubMed Link: 30542053
Variant Present in the following documents:
  • 41391_2018_114_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs543304
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: BRCA2: Val1269Val; rs543304
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease.

Movement Disorders : Official Journal Of The Movement Disorder Society
Gaare, Johannes J JJ; Nido, Gonzalo S GS; Sztromwasser, Paweł P; Knappskog, Per M PM; Dahl, Olav O; Lund-Johansen, Morten M; Maple-Grødem, Jodi J; Alves, Guido G; Tysnes, Ole-Bjørn OB; Johansson, Stefan S; Haugarvoll, Kristoffer K; Tzoulis, Charalampos C
Publication Date: 2018-10

Variant appearance in text: rs543304
PubMed Link: 30256453
Variant Present in the following documents:
  • Main text
  • MDS-33-1591.pdf
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: V1269V; rs543304
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
View BVdb publication page



A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics
Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J
Publication Date: 2018-06-22

Variant appearance in text: rs543304
PubMed Link: 29929473
Variant Present in the following documents:
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Hereditary breast and ovarian cancer in Andalusian families: a genetic population study.

Bmc Cancer
Pajares, Bella B; Porta, Javier J; Porta, Jose María JM; Sousa, Cristina Fernández-de CF; Moreno, Ignacio I; Porta, Daniel D; Durán, Gema G; Vega, Tamara T; Ortiz, Inmaculada I; Muriel, Carolina C; Alba, Emilio E; Márquez, Antonia A
Publication Date: 2018-06-08

Variant appearance in text: rs543304
PubMed Link: 29884136
Variant Present in the following documents:
  • Main text
  • 12885_2018_Article_4537.pdf
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: Val1269=; rs543304
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: V1269V; rs543304
PubMed Link: 29769598
Variant Present in the following documents:
  • 41598_2018_26040_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Plos One
Soukupova, Jana J; Zemankova, Petra P; Lhotova, Klara K; Janatova, Marketa M; Borecka, Marianna M; Stolarova, Lenka L; Lhota, Filip F; Foretova, Lenka L; Machackova, Eva E; Stranecky, Viktor V; Tavandzis, Spiros S; Kleiblova, Petra P; Vocka, Michal M; Hartmannova, Hana H; Hodanova, Katerina K; Kmoch, Stanislav S; Kleibl, Zdenek Z
Publication Date: 2018

Variant appearance in text: BRCA2: V1269V
PubMed Link: 29649263
Variant Present in the following documents:
  • pone.0195761.s003.xlsx, sheet 1
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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: BRCA2: V1269V; rs543304
PubMed Link: 28944232
Variant Present in the following documents:
  • Main text
  • MGG3-5-481.pdf
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Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.

Human Genomics
Buzolin, Ana Lígia AL; Moreira, Caroline Mônaco CM; Sacramento, Patricia Rossi PR; Oku, Andre Yuji AY; Fornari, Alexandre Ricardo Dos Santos ARDS; Antonio, David Santos Marco DSM; Quaio, Caio Robledo D Angioli Costa CRDAC; Baratela, Wagner Rosa WR; Mitne-Neto, Miguel M
Publication Date: 2017-06-26

Variant appearance in text: BRCA2: Val1269=
PubMed Link: 28651617
Variant Present in the following documents:
  • Main text
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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: BRCA2: V1269V; rs543304
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: Val1269=; rs543304
PubMed Link: 28076423
Variant Present in the following documents:
  • Main text
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Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.

International Journal Of Molecular And Cellular Medicine
Zorrieh Zahra, Atieh A; Kadkhoda, Sepideh S; Behjati, Farkhondeh F; Aghakhani Moghaddam, Fatemeh F; Badiei, Azadeh A; Sirati, Fereidoon F; Afshin Alavi, Hossein H; Atri, Morteza M; Omranipour, Ramesh R; Keyhani, Elahe E
Publication Date: 2016

Variant appearance in text: rs543304
PubMed Link: 27478808
Variant Present in the following documents:
  • Main text
  • ijmcm-5-114.pdf
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Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

European Journal Of Human Genetics : Ejhg
Byers, Helen H; Wallis, Yvonne Y; van Veen, Elke M EM; Lalloo, Fiona F; Reay, Kim K; Smith, Philip P; Wallace, Andrew J AJ; Bowers, Naomi N; Newman, William G WG; Evans, D Gareth DG
Publication Date: 2016-11

Variant appearance in text: rs543304
PubMed Link: 27273131
Variant Present in the following documents:
  • Main text
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Screening for germline BRCA1, BRCA2, TP53 and CHEK2 mutations in families at-risk for hereditary breast cancer identified in a population-based study from Southern Brazil.

Genetics And Molecular Biology
Palmero, Edenir Inêz EI; Alemar, Bárbara B; Schüler-Faccini, Lavínia L; Hainaut, Pierre P; Moreira-Filho, Carlos Alberto CA; Ewald, Ingrid Petroni IP; Santos, Patricia Koehler Dos PK; Ribeiro, Patricia Lisbôa Izetti PL; Oliveira, Cristina Brinkmann de Netto CB; Calvez-Kelm, Florence Le FL; Tavtigian, Sean S; Cossio, Silvia Liliana SL; Giugliani, Roberto R; Caleffi, Maira M; Ashton-Prolla, Patricia P
Publication Date: 2016-05-24

Variant appearance in text: BRCA2: V1269V
PubMed Link: 27223485
Variant Present in the following documents:
  • Main text
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Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing.

Plos One
Yang, Liping L; Cui, Hui H; Yin, Xiaobei X; Dou, Hongliang H; Zhao, Lin L; Chen, Ningning N; Zhang, Jinlu J; Zhang, Huirong H; Li, Genlin G; Ma, Zhizhong Z
Publication Date: 2015

Variant appearance in text: BRCA2: V1269V; rs543304
PubMed Link: 26496393
Variant Present in the following documents:
  • pone.0140684.s004.xlsx, sheet 2
  • pone.0140684.s004.xlsx, sheet 5
  • pone.0140684.s004.xlsx, sheet 4
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Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients.

Bmc Cancer
Dodova, Rumyana Ivanova RI; Mitkova, Atanaska Velichkova AV; Dacheva, Daniela Rosenova DR; Hadjo, Lina Basam LB; Vlahova, Alexandrina Ivanova AI; -Hadjieva, Margarita Stoyanova Taushanova MST; Valev, Spartak Stoyanov SS; Caulevska, Marija Mitko MM; Popova, Stanislava Dimitrova SD; Popov, Ivan Emilov IE; Dikov, Tihomir Iliichev TI; Sedloev, Theophil Angelov TA; Ionkov, Atanas Stefanov AS; Timcheva, Konstanta Velinova KV; Christova, Svetlana Liubomirova SL; Kremensky, Ivo Marinov IM; Mitev, Vanio Ivanov VI; Kaneva, Radka Petrova RP
Publication Date: 2015-07-17

Variant appearance in text: BRCA2: V1269V
PubMed Link: 26183948
Variant Present in the following documents:
  • Main text
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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: rs543304
PubMed Link: 25948282
Variant Present in the following documents:
  • 12920_2015_92_MOESM1_ESM.xlsx, sheet 1
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Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.

Sultan Qaboos University Medical Journal
Lai, Stella S; Brookes, Clare C; Prosser, Debra O DO; Lan, Chuan-Ching CC; Doherty, Elaine E; Love, Donald R DR
Publication Date: 2015-02

Variant appearance in text: BRCA2: Val1269Val
PubMed Link: 25685387
Variant Present in the following documents:
  • Main text
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Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma.

Cancer Research And Treatment
Kim, Hye Sook HS; Lee, Soon Wook SW; Choi, Yoon Ji YJ; Shin, Sang Won SW; Kim, Yeul Hong YH; Cho, Min Sun MS; Lee, Soon Nam SN; Park, Kyong Hwa KH
Publication Date: 2015-07

Variant appearance in text: BRCA2: Val1269Val
PubMed Link: 25483746
Variant Present in the following documents:
  • Main text
  • crt-2013-151.pdf
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Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: BRCA2: V1269V; rs543304
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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Polymorphisms in DNA repair genes, hair dye use, and the risk of non-Hodgkin lymphoma.

Cancer Causes & Control : Ccc
Guo, Huan H; Bassig, Bryan A BA; Lan, Qing Q; Zhu, Yong Y; Zhang, Yawei Y; Holford, Theodore R TR; Leaderer, Brian B; Boyle, Peter P; Qin, Qin Q; Zhu, Cairong C; Li, Ni N; Rothman, Nathaniel N; Zheng, Tongzhang T
Publication Date: 2014-10

Variant appearance in text: BRCA2: Val1269Val; rs543304
PubMed Link: 25178586
Variant Present in the following documents:
  • Main text
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Analysis of BRCA2 loss of heterozygosity in tumor tissue using droplet digital polymerase chain reaction.

Human Pathology
Cochran, Rory L RL; Cravero, Karen K; Chu, David D; Erlanger, Bracha B; Toro, Patricia Valda PV; Beaver, Julia A JA; Zabransky, Daniel J DJ; Wong, Hong Yuen HY; Cidado, Justin J; Croessmann, Sarah S; Parsons, Heather H; Kim, Minsoo M; Wheelan, Sarah J SJ; Argani, Pedram P; Ho Park, Ben B
Publication Date: 2014-07

Variant appearance in text: rs543304
PubMed Link: 24824029
Variant Present in the following documents:
  • Main text
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Minor role of BRCA2 mutation (Exon2 and Exon11) in patients with early-onset breast cancer amongst Iranian Azeri-Turkish women.

Iranian Journal Of Basic Medical Sciences
Karimian Fathi, Nahid N; Shekari Khaniani, Mahmood M; Montazeri, Vahid V; Mansoori Derakhshan, Sima S
Publication Date: 2014-02

Variant appearance in text: BRCA2: Val1269Val; rs543304
PubMed Link: 24711893
Variant Present in the following documents:
  • Main text
  • ijbms-17-108.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: V1269V; rs543304
PubMed Link: 23767878
Variant Present in the following documents:
  • Main text
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Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.

American Journal Of Hematology
Chen, Yingtai Y; Zheng, Tongzhang T; Lan, Qing Q; Kim, Christopher C; Qin, Qin Q; Foss, Francine F; Chen, Xuezhong X; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Wang, Chengfeng C; Dai, Min M; Liu, Zhenjiang Z; Ma, Shuangge S; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y
Publication Date: 2013-07

Variant appearance in text: rs543304
PubMed Link: 23619945
Variant Present in the following documents:
  • Main text
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BRCA1/2 mutation analysis in 41 ovarian cell lines reveals only one functionally deleterious BRCA1 mutation.

Molecular Oncology
Stordal, Britta B; Timms, Kirsten K; Farrelly, Angela A; Gallagher, Danielle D; Busschots, Steven S; Renaud, Mickaël M; Thery, Julien J; Williams, Deborah D; Potter, Jennifer J; Tran, Thanh T; Korpanty, Greg G; Cremona, Mattia M; Carey, Mark M; Li, Jie J; Li, Yang Y; Aslan, Ozlem O; O'Leary, John J JJ; Mills, Gordon B GB; Hennessy, Bryan T BT
Publication Date: 2013-06

Variant appearance in text: BRCA2: V1269V
PubMed Link: 23415752
Variant Present in the following documents:
  • Main text
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Genotyping of BRCA1, BRCA2, p53, CDKN2A, MLH1 and MSH2 genes in a male patient with secondary breast cancer.

Radiology And Oncology
Vodusek, Ana Lina AL; Novakovic, Srdjan S; Stegel, Vida V; Jereb, Berta B
Publication Date: 2011-12

Variant appearance in text: BRCA2: V1269V
PubMed Link: 22933969
Variant Present in the following documents:
  • Main text
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