Publications:

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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: C315S

PubMed Link: 36896237

Variant Present in the following documents:

• Table1.xlsx, sheet 1

View BVdb publication page

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Replication gap suppression depends on the double-strand DNA binding activity of BRCA2.

Nature Communications

Vugic, Domagoj D; Dumoulin, Isaac I; Martin, Charlotte C; Minello, Anna A; Alvaro-Aranda, Lucia L; Gomez-Escudero, Jesus J; Chaaban, Rady R; Lebdy, Rana R; von Nicolai, Catharina C; Boucherit, Virginie V; Ribeyre, Cyril C; Constantinou, Angelos A; Carreira, Aura A

Publication Date: 2023-01-27

Variant appearance in text: BRCA2: C315S

PubMed Link: 36707518

Variant Present in the following documents:

• Main text
• 41467_2023_Article_36149.pdf
• 41467_2023_36149_MOESM2_ESM.pdf
• 41467_2023_36149_MOESM1_ESM.pdf

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: BRCA2: C315S

PubMed Link: 36072793

Variant Present in the following documents:

• Table_2.xlsx, sheet 1
• Table_3.xlsx, sheet 1

View BVdb publication page

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Pharmacogenomic Profiling of Pediatric Acute Myeloid Leukemia to Identify Therapeutic Vulnerabilities and Inform Functional Precision Medicine.

Blood Cancer Discovery

Wang, Han H; Chan, Kathy Yuen Yee KYY; Cheng, Chi Keung CK; Ng, Margaret H L MHL; Lee, Po Yi PY; Cheng, Frankie Wai Tsoi FWT; Lam, Grace Kee See GKS; Chow, Tin Wai TW; Ha, Shau Yin SY; Chiang, Alan K S AKS; Leung, Wing Hang WH; Leung, Anskar Y H AYH; Wang, Chi Chiu CC; Zhang, Tao T; Zhang, Xiao-Bing XB; So, Chi Chiu CC; Yuen, Yuet Ping YP; Sun, Qiwei Q; Zhang, Chi C; Xu, Yaqun Y; Cheung, John Tak Kit JTK; Ng, Wing Hei WH; Tang, Patrick Ming-Kuen PM; Kang, Wei W; To, Ka-Fai KF; Lee, Wayne Yuk Wai WYW; Wong, Raymond S M RSM; Poon, Ellen Ngar Yun ENY; Zhao, Qi Q; Huang, Junbin J; Chen, Chun C; Yuen, Patrick Man Pan PMP; Li, Chi-Kong CK; Leung, Alex Wing Kwan AWK; Leung, Kam Tong KT

Publication Date: 2022-11-02

Variant appearance in text: BRCA2: C315S

PubMed Link: 35960210

Variant Present in the following documents:

• bcd-22-0011_supplementary_tables_suppst1-st15.xlsx, sheet 10

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Case Report: Duodenal Carcinoma in a 40-Year-Old Asian Man With Cowden Syndrome.

Frontiers In Surgery

Zhao, Mingkun M; Lin, Xiaohan X; Fang, Yuan Y; Zhuang, Aobo A; Tong, Hanxing H; Lu, Weiqi W; Zhou, Yuhong Y; Zhang, Yong Y

Publication Date: 2022

Variant appearance in text: BRCA2: C315S

PubMed Link: 35903259

Variant Present in the following documents:

• Main text
• fsurg-09-935048.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: C315S

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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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: C315S

PubMed Link: 33335571

Variant Present in the following documents:

• Main text
• etm-21-02-09540.pdf

View BVdb publication page

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Germline BRCA2 Truncating Mutation in Familial Esophageal Squamous Cell Carcinoma: A Case Controlled Study in China.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research

Liang, Zhong Z; Hu, Weidong W; Li, Shuping S; Wei, Zhenhong Z; Zhu, Zijiang Z

Publication Date: 2020-06-24

Variant appearance in text: BRCA2: C315S

PubMed Link: 32579544

Variant Present in the following documents:

• medscimonit-26-e923926.pdf

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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: 944G>C; Cys315Ser

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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Genetic mutations in lung enteric adenocarcinoma identified using next-generation sequencing.

International Journal Of Clinical And Experimental Pathology

Lin, Li L; Zhuang, Wu W; Wang, Wenxian W; Xu, Chunwei C; Chen, Rongrong R; Guan, Yanfang Y; Yi, Xin X; Shao, Yun Y; Tai, Yanhong Y; Chen, Yanping Y; Wu, Meijuan M; Wei, Jianguo J; Chen, Gang G

Publication Date: 2017

Variant appearance in text: BRCA2: C315S

PubMed Link: 31966835

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.

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

Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ

Publication Date: 2019-01

Variant appearance in text: BRCA2: C315S

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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Germline mutations predisposing to diffuse large B-cell lymphoma.

Blood Cancer Journal

Leeksma, O C OC; de Miranda, N F NF; Veelken, H H

Publication Date: 2017-02-17

Variant appearance in text: BRCA2: C315S

PubMed Link: 28211887

Variant Present in the following documents:

• Main text

View BVdb publication page

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: BRCA2: C315S

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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