Publications:

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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: rs779931795

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 3

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: 536A>G

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s009.xlsx, sheet 2
• IJC-152-1159-s001.xlsx, sheet 1

View BVdb publication page

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Shallow WGS of individual CTCs identifies actionable targets for informing treatment decisions in metastatic breast cancer.

British Journal Of Cancer

Fernandez-Garcia, Daniel D; Nteliopoulos, Georgios G; Hastings, Robert K RK; Rushton, Amelia A; Page, Karen K; Allsopp, Rebecca C RC; Ambasager, Bana B; Gleason, Kelly K; Guttery, David S DS; Ali, Simak S; Charles Coombes, R R; Shaw, Jacqueline A JA

Publication Date: 2022-11

Variant appearance in text: BRCA2: H179R

PubMed Link: 36088510

Variant Present in the following documents:

• 41416_2022_1962_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Breast (Edinburgh, Scotland)

Bisgin, Atil A; Sag, Sebnem Ozemri SO; Dogan, Muhammet E ME; Yildirim, Mahmut S MS; Gumus, Aydeniz Aydin AA; Akkus, Nejmiye N; Balasar, Ozgur O; Durmaz, Ceren D CD; Eroz, Recep R; Altiner, Sule S; Alemdar, Adem A; Aliyeva, Lamia L; Boga, Ibrahim I; Cam, Fethi S FS; Dogan, Berkcan B; Esbah, Onur O; Hanta, Abdullah A; Mujde, Cem C; Ornek, Cemre C; Ozer, Sinem S; Rencuzogullari, Cagla C; Sonmezler, Ozge O; Bozdogan, Sevcan Tug ST; Dundar, Munis M; Temel, Sehime G SG

Publication Date: 2022-10

Variant appearance in text: BRCA2: 536A>G

PubMed Link: 35753294

Variant Present in the following documents:

• mmc1.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: H179R

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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Circulating tumor DNA predicts neoadjuvant immunotherapy efficacy and recurrence-free survival in surgical non-small cell lung cancer patients.

Translational Lung Cancer Research

Yue, Dongsheng D; Liu, Weiran W; Chen, Chen C; Zhang, Tao T; Ma, Yuchen Y; Cui, Longgang L; Gu, Yajun Y; Bei, Ting T; Zhao, Xiaochen X; Zhang, Bei B; Bai, Yuezong Y; Romero, Atocha A; Xu-Welliver, Meng M; Wang, Changli C; Zhang, Zhenfa Z; Zhang, Bin B

Publication Date: 2022-02

Variant appearance in text: BRCA2: H179R

PubMed Link: 35280315

Variant Present in the following documents:

• tlcr-11-02-263-supplementary.pdf

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: 536A>G

PubMed Link: 35251494

Variant Present in the following documents:

• Main text
• oncotarget-13-28213.pdf

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: 536A>G; H179R; rs779931795

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Frontiers In Oncology

Andrikopoulou, Angeliki A; Chatzinikolaou, Spyridoula S; Kyriopoulos, Ilias I; Bletsa, Garyfalia G; Kaparelou, Maria M; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F

Publication Date: 2021

Variant appearance in text: BRCA2: 536A>G; His179Arg

PubMed Link: 35127508

Variant Present in the following documents:

• fonc-11-797505.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: H179R

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of pathogenic variants in cancer genes using base editing screens with editing efficiency correction.

Genome Biology

Huang, Changcai C; Li, Guangyu G; Wu, Jiayu J; Liang, Junbo J; Wang, Xiaoyue X

Publication Date: 2021-03-10

Variant appearance in text: BRCA2: H179R

PubMed Link: 33691754

Variant Present in the following documents:

• 13059_2021_2305_MOESM7_ESM.xlsx, sheet 1

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: 536A>G; His179Arg

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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Mutation landscape of germline and somatic BRCA1/2 in patients with high-grade serous ovarian cancer.

Bmc Cancer

Eoh, Kyung Jin KJ; Kim, Hye Min HM; Lee, Jung-Yun JY; Kim, Sunghoon S; Kim, Sang Wun SW; Kim, Young Tae YT; Nam, Eun Ji EJ

Publication Date: 2020-03-12

Variant appearance in text: BRCA2: 536A>G; H179R

PubMed Link: 32164585

Variant Present in the following documents:

• 12885_2020_6693_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics

da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA

Publication Date: 2020-02-10

Variant appearance in text: BRCA2: 536A>G

PubMed Link: 32039725

Variant Present in the following documents:

• 12920_2019_Article_652.pdf

View BVdb publication page

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Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications

Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W

Publication Date: 2019-11-07

Variant appearance in text: BRCA2: 536A>G; His179Arg

PubMed Link: 31700061

Variant Present in the following documents:

• 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Functional Annotation of ESR1 Gene Fusions in Estrogen Receptor-Positive Breast Cancer.

Cell Reports

Lei, Jonathan T JT; Shao, Jieya J; Zhang, Jin J; Iglesia, Michael M; Chan, Doug W DW; Cao, Jin J; Anurag, Meenakshi M; Singh, Purba P; He, Xiaping X; Kosaka, Yoshimasa Y; Matsunuma, Ryoichi R; Crowder, Robert R; Hoog, Jeremy J; Phommaly, Chanpheng C; Goncalves, Rodrigo R; Ramalho, Susana S; Peres, Raquel Mary Rodrigues RMR; Punturi, Nindo N; Schmidt, Cheryl C; Bartram, Alex A; Jou, Eric E; Devarakonda, Vaishnavi V; Holloway, Kimberly R KR; Lai, W Victoria WV; Hampton, Oliver O; Rogers, Anna A; Tobias, Ethan E; Parikh, Poojan A PA; Davies, Sherri R SR; Li, Shunqiang S; Ma, Cynthia X CX; Suman, Vera J VJ; Hunt, Kelly K KK; Watson, Mark A MA; Hoadley, Katherine A KA; Thompson, E Aubrey EA; Chen, Xi X; Kavuri, Shyam M SM; Creighton, Chad J CJ; Maher, Christopher A CA; Perou, Charles M CM; Haricharan, Svasti S; Ellis, Matthew J MJ

Publication Date: 2018-08-07

Variant appearance in text: BRCA2: H179R

PubMed Link: 30089255

Variant Present in the following documents:

• NIHMS985142-supplement-Suppl__Figures.pdf

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: H179R

PubMed Link: 29884841

Variant Present in the following documents:

• NIHMS953431-supplement-Table_S2.xls, sheet 1

View BVdb publication page

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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: 536A>G

PubMed Link: 26183948

Variant Present in the following documents:

• Main text
• 12885_2015_Article_1516.pdf

View BVdb publication page

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BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin.

Springerplus

Solano, Angela Rosaria AR; Aceto, Gitana Maria GM; Delettieres, Dreanina D; Veschi, Serena S; Neuman, Maria Isabel MI; Alonso, Eduardo E; Chialina, Sergio S; Chacón, Reinaldo Daniel RD; Renato, Mariani-Costantini MC; Podestá, Ernesto Jorge EJ

Publication Date: 2012

Variant appearance in text: BRCA2: 536A>G

PubMed Link: 23961350

Variant Present in the following documents:

• Main text
• 40064_2012_Article_24.pdf

View BVdb publication page

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