BRCA2 c.1114A>C ;(p.N372H)

Variant ID: 13-32906729-A-C

NM_000059.3(BRCA2):c.1114A>C;(p.N372H)

This variant was identified in 279 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: BRCA2: N372H
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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: 1114A>C; Asn372His; rs144848
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 2
View BVdb publication page



Hypomorphic Brca2 and Rad51c double mutant mice display Fanconi anemia, cancer and polygenic replication stress.

Nature Communications
Tomaszowski, Karl-Heinz KH; Roy, Sunetra S; Guerrero, Carolina C; Shukla, Poojan P; Keshvani, Caezaan C; Chen, Yue Y; Ott, Martina M; Wu, Xiaogang X; Zhang, Jianhua J; DiNardo, Courtney D CD; Schindler, Detlev D; Schlacher, Katharina K
Publication Date: 2023-03-11

Variant appearance in text: BRCA2: N372H
PubMed Link: 36906610
Variant Present in the following documents:
  • 41467_2023_36933_MOESM2_ESM.pdf
  • 41467_2023_36933_MOESM1_ESM.pdf
View BVdb publication page



Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer susceptibility: an updated meta-analysis.

Bioscience Reports
Wang, Yuwei Y; Huo, Lili L; Yang, Changqing C; He, Xiaofeng X
Publication Date: 2023-03-10

Variant appearance in text: BRCA2: N372H
PubMed Link: 36896928
Variant Present in the following documents:
  • bsr-43-bsr20222553.pdf
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: N372H
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: 1114A>C
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs144848
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.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: rs144848
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 3
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: N372H
PubMed Link: 36460033
Variant Present in the following documents:
  • mjac064_supplemental_file.pdf
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: BRCA2: 1114A>C; N372H; rs144848
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.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: 1114A>C; Asn372His
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s009.xlsx, sheet 2
  • IJC-152-1159-s001.xlsx, sheet 3
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
  • IJC-152-1159-s012.xlsx, sheet 1
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: 1114A>C; N372H; rs144848
PubMed Link: 36329109
Variant Present in the following documents:
  • 41598_2022_23012_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients.

Bmc Cancer
Li, Yan Y; Chen, Lili L; Lv, Jinxing J; Chen, Xiaobin X; Zeng, Bangwei B; Chen, Minyan M; Guo, Wenhui W; Lin, Yuxiang Y; Yu, Liuwen L; Hou, Jialin J; Li, Jing J; Zhou, Peng P; Zhang, Wenzhe W; Li, Shengmei S; Jin, Xuan X; Cai, Weifeng W; Zhang, Kun K; Huang, Yeyuan Y; Wang, Chuan C; Fu, Fangmeng F
Publication Date: 2022-11-02

Variant appearance in text: BRCA2: 1114A>C; Asn372His; rs144848
PubMed Link: 36324133
Variant Present in the following documents:
  • 12885_2022_10160_MOESM1_ESM.xls, 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: N372H; rs144848
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
View BVdb publication page



Pan-cancer analysis of co-occurring mutations in RAD52 and the BRCA1-BRCA2-PALB2 axis in human cancers.

Plos One
Hamid, Abdulaziz B AB; Frank, Lauren E LE; Bouley, Renee A RA; Petreaca, Ruben C RC
Publication Date: 2022

Variant appearance in text: BRCA2: N372H
PubMed Link: 36107942
Variant Present in the following documents:
  • pone.0273736.s005.xlsx, sheet 6
  • pone.0273736.s005.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: BRCA2: N372H; rs144848
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Computational Biology of BRCA2 in Male Breast Cancer, through Prediction of Probable nsSNPs, and Hit Identification.

Acs Omega
Shinde, Sangita Dattatray SD; Satpute, Dinesh Parshuram DP; Behera, Santosh Kumar SK; Kumar, Dinesh D
Publication Date: 2022-08-30

Variant appearance in text: BRCA2: N372H
PubMed Link: 36061650
Variant Present in the following documents:
  • ao2c03851_si_001.pdf
View BVdb publication page



Analysis of the Clinical Advancements for BRCA-Related Malignancies Highlights the Lack of Treatment Evidence for BRCA-Positive Male Breast Cancer.

Cancers
McClurg, Dylan P DP; Urquhart, Gordan G; McGoldrick, Trevor T; Chatterji, Subarnarekha S; Miedzybrodzka, Zosia Z; Speirs, Valerie V; Elsberger, Beatrix B
Publication Date: 2022-06-28

Variant appearance in text: BRCA2: N372H
PubMed Link: 35804947
Variant Present in the following documents:
  • cancers-14-03175.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: N372H
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The association between single nucleotide polymorphisms and ovarian cancer risk: A systematic review and network meta-analysis.

Cancer Medicine
Hu, Jia J; Xu, Zhe Z; Ye, Zhuomiao Z; Li, Jin J; Hao, Zhinan Z; Wang, Yongjun Y
Publication Date: 2022-05-30

Variant appearance in text: rs144848
PubMed Link: 35637613
Variant Present in the following documents:
  • Main text
  • CAM4-12-541.pdf
View BVdb publication page



Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrum.

Human Mutation
Postel, Mackenzie D MD; Culver, Julie O JO; Ricker, Charité C; Craig, David W DW
Publication Date: 2022-11

Variant appearance in text: rs144848
PubMed Link: 35510381
Variant Present in the following documents:
  • Main text
  • HUMU-43-1590.pdf
View BVdb publication page



Whole Exome Sequencing Identifies Genes Associated With Non-Obstructive Azoospermia.

Frontiers In Genetics
Zhang, Hongguo H; Li, Wei W; Jiang, Yuting Y; Li, Jia J; Chen, Mucheng M; Wang, Ruixue R; Zhao, Jing J; Peng, Zhiyu Z; Huang, Hui H; Liu, Ruizhi R
Publication Date: 2022

Variant appearance in text: BRCA2: N372H
PubMed Link: 35495142
Variant Present in the following documents:
  • fgene-13-872179.pdf
View BVdb publication page



The Role of the Adipokine Resistin in the Pathogenesis and Progression of Epithelial Ovarian Cancer.

Biomedicines
Parafiniuk, Klaudia K; Skiba, Wiktoria W; Pawłowska, Anna A; Suszczyk, Dorota D; Maciejczyk, Aleksandra A; Wertel, Iwona I
Publication Date: 2022-04-16

Variant appearance in text: BRCA2: N372H; rs144848
PubMed Link: 35453670
Variant Present in the following documents:
  • biomedicines-10-00920.pdf
View BVdb publication page



5-Hydroxymethylcytosine (5hmC) at or near cancer mutation hot spots as potential targets for early cancer detection.

Bmc Research Notes
Lu, Michael J MJ; Lu, Yabin Y
Publication Date: 2022-04-21

Variant appearance in text: BRCA2: N372H
PubMed Link: 35449110
Variant Present in the following documents:
  • Main text
  • 13104_2022_Article_6028.pdf
View BVdb publication page



Designing highly multiplex PCR primer sets with Simulated Annealing Design using Dimer Likelihood Estimation (SADDLE).

Nature Communications
Xie, Nina G NG; Wang, Michael X MX; Song, Ping P; Mao, Shiqi S; Wang, Yifan Y; Yang, Yuxia Y; Luo, Junfeng J; Ren, Shengxiang S; Zhang, David Yu DY
Publication Date: 2022-04-11

Variant appearance in text: BRCA2: 1114A>C
PubMed Link: 35410464
Variant Present in the following documents:
  • 41467_2022_29500_MOESM5_ESM.xlsx, sheet 8
View BVdb publication page



Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.

Oncotarget
Ebner, Silvana S; Winkelmann, Ria R; Martin, Saskia S; Köllermann, Jens J; Wild, Peter J PJ; Demes, Melanie M
Publication Date: 2022

Variant appearance in text: BRCA2: 1114A>C
PubMed Link: 35251494
Variant Present in the following documents:
  • Main text
  • oncotarget-13-28213.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: 1114A>C; Asn372His; rs144848
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Integrated molecular profiling of patient-derived ovarian cancer models identifies clinically relevant signatures and tumor vulnerabilities.

International Journal Of Cancer
Lupia, Michela M; Melocchi, Valentina V; Bizzaro, Francesca F; Lo Riso, Pietro P; Dama, Elisa E; Baronio, Micol M; Ranghiero, Alberto A; Barberis, Massimo M; Bernard, Loris L; Bertalot, Giovanni G; Giavazzi, Raffaella R; Testa, Giuseppe G; Bianchi, Fabrizio F; Cavallaro, Ugo U
Publication Date: 2022-07-15

Variant appearance in text: BRCA2: Asn372His; rs144848
PubMed Link: 35218560
Variant Present in the following documents:
  • IJC-151-240-s001.xlsx, sheet 7
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: 1114A>C; N372H; rs144848
PubMed Link: 35218119
Variant Present in the following documents:
  • CAS-113-1451-s002.xlsx, sheet 1
View BVdb publication page



DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.

Genome Medicine
Liu, Jiaqi J; Zhao, Hengqiang H; Zheng, Yu Y; Dong, Lin L; Zhao, Sen S; Huang, Yukuan Y; Huang, Shengkai S; Qian, Tianyi T; Zou, Jiali J; Liu, Shu S; Li, Jun J; Yan, Zihui Z; Li, Yalun Y; Zhang, Shuo S; Huang, Xin X; Wang, Wenyan W; Li, Yiqun Y; Wang, Jie J; Ming, Yue Y; Li, Xiaoxin X; Xing, Zeyu Z; Qin, Ling L; Zhao, Zhengye Z; Jia, Ziqi Z; Li, Jiaxin J; Liu, Gang G; Zhang, Menglu M; Feng, Kexin K; Wu, Jiang J; Zhang, Jianguo J; Yang, Yongxin Y; Wu, Zhihong Z; Liu, Zhihua Z; Ying, Jianming J; Wang, Xin X; Su, Jianzhong J; Wang, Xiang X; Wu, Nan N
Publication Date: 2022-02-25

Variant appearance in text: BRCA2: 1114A>C; Asn372His
PubMed Link: 35209950
Variant Present in the following documents:
  • 13073_2022_1027_MOESM22_ESM.xls, sheet 1
View BVdb publication page



BRCA1/2 mutation spectrum in Chinese early-onset breast cancer.

Translational Cancer Research
Shen, Mengjia M; Yang, Libo L; Lei, Ting T; Xiao, Lin L; Li, Li L; Zhang, Peichuan P; Feng, Weiyi W; Ye, Feng F; Bu, Hong H
Publication Date: 2019-04

Variant appearance in text: BRCA2: 1114A>C; Asn372His
PubMed Link: 35116780
Variant Present in the following documents:
  • Main text
  • tcr-08-02-483.pdf
View BVdb publication page



Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology
Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y
Publication Date: 2021

Variant appearance in text: BRCA2: N372H
PubMed Link: 35095878
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Association of Novel Single Nucleotide Polymorphisms of Genes Involved in Cell Functions with Male Infertility: A Study of Male Cases in Northwest Iran.

Journal Of Reproduction & Infertility
Ghadirkhomi, Elham E; Angaji, Seyed Abdolhamid SA; Khosravi, Maryam M; Mashayekhi, Mohammad Reza MR
Publication Date: 2021

Variant appearance in text: BRCA2: N372H
PubMed Link: 34987987
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association Between MTHFR Polymorphisms and the Risk of Essential Hypertension: An Updated Meta-analysis.

Frontiers In Genetics
Meng, Hao H; Huang, Shaoyan S; Yang, Yali Y; He, Xiaofeng X; Fei, Liping L; Xing, Yuping Y
Publication Date: 2021

Variant appearance in text: BRCA2: N372H
PubMed Link: 34899823
Variant Present in the following documents:
  • fgene-12-698590.pdf
View BVdb publication page



Multiomics Landscape Uncovers the Molecular Mechanism of the Malignant Evolution of Lung Adenocarcinoma Cells to Chronic Low Dose Cadmium Exposure.

Frontiers In Oncology
Dai, Shun-Dong SD; Wang, Shuang S; Qin, Ya-Nan YN; Zhu, Jin-Chao JC
Publication Date: 2021

Variant appearance in text: BRCA2: N372H
PubMed Link: 34858801
Variant Present in the following documents:
  • Table_1.xls, sheet 1
View BVdb publication page



Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2022-01

Variant appearance in text: BRCA2: 1114A>C; Asn372His; rs144848
PubMed Link: 34800919
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Combined multimodal ctDNA analysis and radiological imaging for tumor surveillance in Non-small cell lung cancer.

Translational Oncology
Metzenmacher, Martin M; Hegedüs, Balazs B; Forster, Jan J; Schramm, Alexander A; Horn, Peter A PA; Klein, Christoph A CA; Bielefeld, Nicola N; Ploenes, Till T; Aigner, Clemens C; Theegarten, Dirk D; Schildhaus, Hans-Ulrich HU; Siveke, Jens T JT; Schuler, Martin M; Lueong, Smiths S SS
Publication Date: 2021-11-17

Variant appearance in text: BRCA2: 1114A>C; Asn372His; rs144848
PubMed Link: 34800919
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Investigation on factors associated with ovarian cancer: an umbrella review of systematic review and meta-analyses.

Journal Of Ovarian Research
Tanha, Kiarash K; Mottaghi, Azadeh A; Nojomi, Marzieh M; Moradi, Marzieh M; Rajabzadeh, Rezvan R; Lotfi, Samaneh S; Janani, Leila L
Publication Date: 2021-11-11

Variant appearance in text: BRCA2: N372H; rs144848
PubMed Link: 34758846
Variant Present in the following documents:
  • Main text
  • 13048_2021_Article_911.pdf
View BVdb publication page



Establishment and characterization of novel highly aggressive HER2‑positive and triple‑negative breast cancer cell lines.

Oncology Reports
Thongchot, Suyanee S; Jamjuntra, Pranisa P; Prasopsiri, Jaturawitt J; Thuwajit, Peti P; Sawasdee, Nunghathai N; Poungvarin, Naravat N; Warnnissorn, Malee M; Sa-Nguanraksa, Doonyapat D; O-Charoenrat, Pornchai P; Yenchitsomanus, Pa-Thai PT; Thuwajit, Chanitra C
Publication Date: 2021-12

Variant appearance in text: BRCA2: 1114A>C; N372H
PubMed Link: 34651665
Variant Present in the following documents:
  • Main text
  • or-46-06-08205.pdf
View BVdb publication page



Immune Checkpoint Inhibitors Plus Single-Agent Chemotherapy for Advanced Non-Small-Cell Lung Cancer After Resistance to EGFR-TKI.

Frontiers In Oncology
Deng, Haiyi H; Lin, Xinqing X; Xie, Xiaohong X; Yang, Yilin Y; Wang, Liqiang L; Wu, Jianhui J; Liu, Ming M; Xie, Zhanhong Z; Qin, Yinyin Y; Zhou, Chengzhi C
Publication Date: 2021

Variant appearance in text: BRCA2: Asn372His
PubMed Link: 34616674
Variant Present in the following documents:
  • DataSheet_1.pdf
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: Asn372His
PubMed Link: 34504103
Variant Present in the following documents:
  • Main text
  • 41523_2021_Article_322.pdf
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A Novel Germline Compound Heterozygous Mutation of BRCA2 Gene Associated With Familial Peripheral Neuroblastic Tumors in Two Siblings.

Frontiers In Genetics
Yang, Yeran Y; Chen, Jiwei J; Qin, Hong H; Jin, Yaqiong Y; Zhang, Li L; Yang, Shen S; Wang, Huanmin H; Fu, Libing L; Hong, Enyu E; Yu, Yongbo Y; Lu, Jie J; Chang, Yan Y; Ni, Xin X; Xu, Min M; Shi, Tieliu T; Guo, Yongli Y
Publication Date: 2021

Variant appearance in text: BRCA2: N372H; rs144848
PubMed Link: 34367235
Variant Present in the following documents:
  • Main text
  • fgene-12-652718.pdf
  • Table_1.xlsx, sheet 3
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: rs144848
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: 1114A>C; rs144848
PubMed Link: 34287479
Variant Present in the following documents:
  • Main text
  • cln-76-2837.pdf
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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: 1114A>C; N372H
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
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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: 1114A>C; Asn372His
PubMed Link: 34242281
Variant Present in the following documents:
  • Main text
View BVdb publication page



Individual and combined effects of GSTM1, GSTT1, and GSTP1 polymorphisms on lung cancer risk: A meta-analysis and re-analysis of systematic meta-analyses.

Medicine
Zhang, Wen-Ping WP; Yang, Chen C; Xu, Ling-Jun LJ; Wang, Wei W; Song, Liang L; He, Xiao-Feng XF
Publication Date: 2021-07-02

Variant appearance in text: BRCA2: N372H
PubMed Link: 34190143
Variant Present in the following documents:
  • medi-100-e26104.pdf
View BVdb publication page



A novel genomic classification system of gastric cancer via integrating multidimensional genomic characteristics.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Wang, Haiyong H; Ding, Yongfeng Y; Chen, Yanyan Y; Jiang, Junjie J; Chen, Yiran Y; Lu, Jun J; Kong, Mei M; Mo, Fan F; Huang, Yingying Y; Zhao, Wenyi W; Fang, Ping P; Chen, Xiangliu X; Teng, Xiaodong X; Xu, Nong N; Lu, Yimin Y; Yu, Xiongfei X; Li, Zhongqi Z; Zhang, Jing J; Wang, Haohao H; Bao, Xuanwen X; Zhou, Donghui D; Chi, Ying Y; Zhou, Tianhua T; Zhou, Zhan Z; Chen, Shuqing S; Teng, Lisong L
Publication Date: 2021-11

Variant appearance in text: BRCA2: N372H
PubMed Link: 34095982
Variant Present in the following documents:
  • 10120_2021_1201_MOESM2_ESM.xlsx, sheet 10
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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: 1114A>C; Asn372His; rs144848
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page