Publications:

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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: I3412V; rs1801426

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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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: I3412V

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: BRCA2: 10234A>G; Ile3412Val; rs1801426

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Cancer Research Communications

Valentine, Henkel H; Aiken, William W; Morrison, Belinda B; Zhao, Ziran Z; Fowle, Holly H; Wasserman, Jason S JS; Thompson, Elon E; Chin, Warren W; Young, Mark M; Clarke, Shannique S; Gibbs, Denise D; Harrison, Sharon S; McLaughlin, Wayne W; Kwok, Tim T; Jin, Fang F; Campbell, Kerry S KS; Horvath, Anelia A; Thompson, Rory R; Lee, Norman H NH; Zhou, Yan Y; Graña, Xavier X; Ragin, Camille C; Badal, Simone S

Publication Date: 2022-11

Variant appearance in text: BRCA2: I3412V; rs1801426

PubMed Link: 36643868

Variant Present in the following documents:

• crc-22-0245-s07.xlsx, sheet 1

View BVdb publication page

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Integrative single-cell analysis reveals transcriptional and epigenetic regulatory features of clear cell renal cell carcinoma.

Cancer Research

Yu, Zhenyuan Z; Lv, Yufang Y; Su, Cheng C; Lu, Wenhao W; Zhang, RuiRui R; Li, Jiaping J; Guo, Bingqian B; Yan, Haibiao H; Liu, Deyun D; Yang, Zhanbin Z; Mi, Hua H; Mo, Linjian L; Guo, Yi Y; Feng, Wenyu W; Xu, Haotian H; Peng, Wenyi W; Cheng, Jiwen J; Nan, Aruo A; Mo, Zengnan Z

Publication Date: 2023-01-06

Variant appearance in text: BRCA2: I3412V; rs1801426

PubMed Link: 36607615

Variant Present in the following documents:

• can-22-2224_table_s8_suppst8.xlsx, sheet 15

View BVdb publication page

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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: rs1801426

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

View BVdb publication page

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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: I3412V

PubMed Link: 36460033

Variant Present in the following documents:

• mjac064_supplemental_file.pdf

View BVdb publication page

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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: 10234A>G; Ile3412Val

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 2
• IJC-152-1159-s012.xlsx, sheet 1
• IJC-152-1159-s006.xlsx, sheet 3
• IJC-152-1159-s009.xlsx, sheet 2

View BVdb publication page

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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: 10234A>G; Ile3412Val; rs1801426

PubMed Link: 36329109

Variant Present in the following documents:

• 41598_2022_23012_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 10234A>G; Ile3412Val; rs1801426

PubMed Link: 36324133

Variant Present in the following documents:

• 12885_2022_10160_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Evolutionary Trajectories of Primary and Metastatic Pancreatic Neuroendocrine Tumors Based on Genomic Variations.

Genes

Xu, Midie M; Yan, Jiuliang J; Hu, Beiyuan B; Wu, Chuntao C; Gu, Haitao H; Qi, Zihao Z; Chen, Tao T; Yang, Wenting W; Zheng, Yan Y; Dong, Hanguang H; Sheng, Weiqi W; Long, Jiang J

Publication Date: 2022-09-04

Variant appearance in text: BRCA2: 10234A>G; Ile3412Val

PubMed Link: 36140756

Variant Present in the following documents:

• genes-13-01588.pdf

View BVdb publication page

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Screening of BRCA1/2 variants in Mauritanian breast cancer patients.

Bmc Cancer

Brahim, Selma Mohamed SM; Zein, Ekht Elbenina EE; Bonnet, Crystel C; Hamed, Cheikh Tijani CT; Salame, Malak M; Zein, Mohamed Vall MV; Khyatti, Meriem M; Tolba, Ahmedou A; Houmeida, Ahmed A

Publication Date: 2022-07-20

Variant appearance in text: BRCA2: Ile3412Val; rs1801426

PubMed Link: 35858847

Variant Present in the following documents:

• Main text
• 12885_2022_Article_9903.pdf

View BVdb publication page

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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: I3412V

PubMed Link: 35729312

Variant Present in the following documents:

• 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 10234A>G

PubMed Link: 35251494

Variant Present in the following documents:

• Main text
• oncotarget-13-28213.pdf

View BVdb publication page

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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: 10234A>G; I3412V; rs1801426

PubMed Link: 35246724

Variant Present in the following documents:

• 432_2022_3944_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: 10234A>G; I3412V; rs1801426

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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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: 10234A>G

PubMed Link: 35209950

Variant Present in the following documents:

• 13073_2022_1027_MOESM22_ESM.xls, sheet 1

View BVdb publication page

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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: 10234A>G; Ile3412Val

PubMed Link: 35116780

Variant Present in the following documents:

• Main text
• tcr-08-02-483.pdf

View BVdb publication page

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

Scientific Reports

Khoruddin, Nurul Ain NA; Noorizhab, Mohd NurFakhruzzaman MN; Teh, Lay Kek LK; Mohd Yusof, Farida Zuraina FZ; Salleh, Mohd Zaki MZ

Publication Date: 2021-08-09

Variant appearance in text: BRCA2: I3412V; rs1801426

PubMed Link: 34373545

Variant Present in the following documents:

• 41598_2021_95618_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: 10234A>G; I3412V; rs1801426

PubMed Link: 34287479

Variant Present in the following documents:

• Main text
• cln-76-2837.pdf

View BVdb publication page

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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: 10234A>G; I3412V

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 3
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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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: 10234A>G; Ile3412Val

PubMed Link: 34242281

Variant Present in the following documents:

• Main text
• pone.0254101.s001.pdf
• pone.0254101.pdf

View BVdb publication page

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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: 10234A>G; I3412V; rs1801426

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Analysis of BRCA1/2 variants of unknown significance in the prospective Korean Hereditary Breast Cancer study.

Scientific Reports

Kim, Joo Heung JH; Park, Sunggyun S; Park, Hyung Seok HS; Park, Ji Soo JS; Lee, Seung-Tae ST; Kim, Sung-Won SW; Lee, Jong Won JW; Lee, Min Hyuk MH; Park, Sue K SK; Noh, Woo-Chul WC; Choi, Doo Ho DH; Han, Wonshik W; Jung, Sung Hoo SH

Publication Date: 2021-04-19

Variant appearance in text: BRCA2: 10234A>G; rs1801426

PubMed Link: 33875706

Variant Present in the following documents:

• Main text
• 41598_2021_Article_87792.pdf

View BVdb publication page

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Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology

Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y

Publication Date: 2021-04-01

Variant appearance in text: BRCA2: I3412V; rs1801426

PubMed Link: 33795819

Variant Present in the following documents:

• 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.

Frontiers In Oncology

Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R

Publication Date: 2021

Variant appearance in text: BRCA2: 10234A>G; Ile3412Val

PubMed Link: 33747920

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 8

View BVdb publication page

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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: 10234A>G; Ile3412Val; rs1801426

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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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: 10234A>G; rs1801426

PubMed Link: 33643918

Variant Present in the following documents:

• Main text
• fonc-10-619469.pdf

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs1801426

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Patient-derived organoids in cellulosic sponge model chemotherapy response of metastatic colorectal cancer.

Clinical And Translational Medicine

Xu, Yanjie Y; Chen, Jianjun J; Huang, Yizhou Y; Luo, Yang Y; Hsieh, An-Chih AC; Chen, Jianyi J; Li, Han H; Wei, Xunbin X; Gao, Wei-Qiang WQ; Zhong, Ming M; Zhang, Yan Y

Publication Date: 2021-01

Variant appearance in text: BRCA2: I3412V; rs1801426

PubMed Link: 33463056

Variant Present in the following documents:

• CTM2-11-e285-s003.xlsx, sheet 21

View BVdb publication page

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Production of a SCID mouse model of medulloblastoma to explore the therapeutic value of targeting tumor driver genes.

Experimental And Therapeutic Medicine

Han, Yong Y; Chen, Min M; Wang, Hangzhou H

Publication Date: 2021-02

Variant appearance in text: BRCA2: I3412V

PubMed Link: 33335571

Variant Present in the following documents:

• Main text
• etm-21-02-09540.pdf

View BVdb publication page

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Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.

Therapeutic Advances In Medical Oncology

Yang, Hong H; Liu, Zhimin Z; Wang, Yufang Y; Li, Jun J; Li, Ruiqian R; Wang, Qilin Q; Hu, Chen C; Jiang, Haiyang H; Wu, Hongyi H; Song, Lele L; Bai, Yu Y

Publication Date: 2020

Variant appearance in text: BRCA2: 10234A>G; I3412V; rs1801426

PubMed Link: 33240400

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reclassification of BRCA1 and BRCA2 variants found in ovarian epithelial, fallopian tube, and primary peritoneal cancers.

Journal Of Gynecologic Oncology

Ha, Hyeong In HI; Ryu, Jin Sun JS; Shim, Hyoeun H; Kong, Sun Young SY; Lim, Myong Cheol MC

Publication Date: 2020-11

Variant appearance in text: BRCA2: 10234A>G; Ile3412Val

PubMed Link: 33078592

Variant Present in the following documents:

• Main text
• jgo-31-e83.pdf
• jgo-31-e83-s008.xls, sheet 1
• jgo-31-e83-s007.xls, sheet 1
• jgo-31-e83-s009.xls, sheet 1

View BVdb publication page

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Identification of Recurrent Variants in BRCA1 and BRCA2 across Multiple Cancers in the Chinese Population.

Biomed Research International

Jiang, Yue Y; Tian, Ting T; Yu, Chengxiao C; Zhou, Wen W; Yang, Junzhe J; Wang, Yifeng Y; Wen, Yang Y; Chen, Jiaping J; Dai, Juncheng J; Jin, Guangfu G; Ma, Hongxia H; Shen, Hongbing H; Hu, Zhibin Z

Publication Date: 2020

Variant appearance in text: BRCA2: 10234A>G

PubMed Link: 32879886

Variant Present in the following documents:

• 6739823.f1.pdf

View BVdb publication page

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Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer

Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ

Publication Date: 2020

Variant appearance in text: BRCA2: 10234A>G; Ile3412Val

PubMed Link: 32377563

Variant Present in the following documents:

• 41523_2020_159_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: I3412V; rs1801426

PubMed Link: 32300177

Variant Present in the following documents:

• 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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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: 10234A>G; Ile3412Val

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC

Publication Date: 2020-05

Variant appearance in text: BRCA2: 10234A>G; Ile3412Val; rs1801426

PubMed Link: 31911673

Variant Present in the following documents:

• 41436_2019_740_MOESM2_ESM.xlsx, sheet 2
• 41436_2019_740_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation

Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS

Publication Date: 2020-04-01

Variant appearance in text: BRCA2: 10234A>G; I3412V; rs1801426

PubMed Link: 31874108

Variant Present in the following documents:

• jci-130-132031-s100.xlsx, sheet 1

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Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One

Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY

Publication Date: 2019

Variant appearance in text: BRCA2: I3412V; rs1801426

PubMed Link: 31747416

Variant Present in the following documents:

• pone.0224227.s002.xlsx, sheet 1

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Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Genes

Urbina-Jara, Laura Keren LK; Rojas-Martinez, Augusto A; Martinez-Ledesma, Emmanuel E; Aguilar, Dione D; Villarreal-Garza, Cynthia C; Ortiz-Lopez, Rocio R

Publication Date: 2019-10-10

Variant appearance in text: BRCA2: 10234A>G; Ile3412Val; rs1801426

PubMed Link: 31658756

Variant Present in the following documents:

• Main text
• genes-10-00786.pdf

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: BRCA2: 10234A>G; I3412V

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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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: Ile3412Val; rs1801426

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

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Clinicopathological characteristics and molecular abnormalities of primary grade 2 neuroendocrine tumors of the cervix.

Diagnostic Pathology

Zhu, Ran R; Wu, Huanwen H; Chen, Bo B; Pang, Junyi J; Huo, Zhen Z

Publication Date: 2019-06-22

Variant appearance in text: BRCA2: I3412V

PubMed Link: 31228945

Variant Present in the following documents:

• Main text

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Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.

Bmc Medical Genetics

Diop, Jean Pascal Demba JPD; Diallo, Rokhaya Ndiaye RN; Bourdon-Huguenin, Violaine V; Dem, Ahmadou A; Diouf, Doudou D; Dieng, Mamadou Moustapha MM; Ba, Seydi Abdoul SA; Dia, Yacouba Y; Ka, Sidy S; Mbengue, Babacar B; Thiam, Alassane A; Faye, Oumar O; Diop, Papa Amadou PA; Sobol, Hagay H; Dieye, Alioune A

Publication Date: 2019-05-06

Variant appearance in text: BRCA2: 10234A>G; Ile3412Val

PubMed Link: 31060517

Variant Present in the following documents:

• Main text
• 12881_2019_Article_814.pdf

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: BRCA2: I3412V

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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Stress-induced precocious aging in PD-patient iPSC-derived NSCs may underlie the pathophysiology of Parkinson's disease.

Cell Death & Disease

Zhu, Liang L; Sun, Chenxi C; Ren, Jie J; Wang, Guangming G; Ma, Rongjie R; Sun, Lixin L; Yang, Danjing D; Gao, Shane S; Ning, Ke K; Wang, Zhigang Z; Chen, Xu X; Chen, Shengdi S; Zhu, Hongwen H; Gao, Zhengliang Z; Xu, Jun J

Publication Date: 2019-02-04

Variant appearance in text: BRCA2: 10234A>G; I3412V; rs1801426

PubMed Link: 30718471

Variant Present in the following documents:

• 41419_2019_1313_MOESM3_ESM.xlsx, sheet 1

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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: rs1801426

PubMed Link: 30702160

Variant Present in the following documents:

• IJC-145-962-s005.xlsx, sheet 1
• IJC-145-962-s007.xlsx, sheet 1

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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: 10234A>G; Ile3412Val; rs1801426

PubMed Link: 30630528

Variant Present in the following documents:

• 40246_2018_188_MOESM3_ESM.xlsx, sheet 1

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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: 10234A>G; Ile3412Val; rs1801426

PubMed Link: 30287823

Variant Present in the following documents:

• 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
• 41467_2018_6581_MOESM5_ESM.xlsx, sheet 1

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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: BRCA2: 10234A>G; I3412V

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

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