Publications:

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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: BRCA1: 302-1G>T; rs80358116

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1

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: rs80358116

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s011.xlsx, sheet 1

View BVdb publication page

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Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.

Frontiers In Genetics

Doraczynska-Kowalik, Anna A; Michalowska, Dagmara D; Matkowski, Rafal R; Czykalko, Ewelina E; Blomka, Dorota D; Semeniuk, Mariola M; Abrahamowska, Mariola M; Janus-Szymanska, Gabriela G; Mlynarczykowska, Paulina P; Szynglarewicz, Bartlomiej B; Pawlak, Ireneusz I; Maciejczyk, Adam A; Laczmanska, Izabela I

Publication Date: 2022

Variant appearance in text: rs80358116

PubMed Link: 36171877

Variant Present in the following documents:

• Main text
• fgene-13-941375.pdf

View BVdb publication page

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Identification of hereditary breast and ovarian cancer germline variants in Granada (Spain): NGS perspective.

Molecular Genetics And Genomics : Mgg

Molina-Zayas, María M; Garrido-Navas, Carmen C; García-Puche, Jose Luis JL; Barwell, Julian J; Pedrinaci, Susana S; Atienza, Margarita Martínez MM; García-Linares, Susana S; de Haro-Muñoz, Tomás T; Lorente, Jose Antonio JA; Serrano, M Jose MJ; Poyatos-Andújar, Antonio A

Publication Date: 2022-05

Variant appearance in text: rs80358116

PubMed Link: 35451682

Variant Present in the following documents:

• Main text
• 438_2022_Article_1891.pdf

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs80358116

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

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KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One

Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW

Publication Date: 2022

Variant appearance in text: rs80358116

PubMed Link: 35081118

Variant Present in the following documents:

• pone.0251286.s005.xlsx, sheet 6

View BVdb publication page

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Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.

Npj Breast Cancer

Herzog, Josef S JS; Chavarri-Guerra, Yanin Y; Castillo, Danielle D; Abugattas, Julio J; Villarreal-Garza, Cynthia C; Sand, Sharon S; Clague-Dehart, Jessica J; Alvarez-Gómez, Rosa M RM; Wegman-Ostrosky, Talia T; Mohar, Alejandro A; Mora, Pamela P; Del Toro-Valero, Azucena A; Daneri-Navarro, Adrian A; Rodriguez, Yenni Y; Cruz-Correa, Marcia M; Ashton-Prolla, Patricia P; Alemar, Bárbara B; Mejia, Rosa R; Gallardo, Lenny L; Shaw, Robin R; Yang, Kai K; Cervantes, Aleck A; Tsang, Kevin K; Nehoray, Bita B; Barrera Saldana, Hugo H; Neuhausen, Susan S; Weitzel, Jeffrey N JN

Publication Date: 2021-08-19

Variant appearance in text: rs80358116

PubMed Link: 34413315

Variant Present in the following documents:

• 41523_2021_317_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs80358116

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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The germline mutational landscape of BRCA1 and BRCA2 in Brazil.

Scientific Reports

Palmero, Edenir Inêz EI; Carraro, Dirce Maria DM; Alemar, Barbara B; Moreira, Miguel Angelo Martins MAM; Ribeiro-Dos-Santos, Ândrea Â; Abe-Sandes, Kiyoko K; Galvão, Henrique Campos Reis HCR; Reis, Rui Manuel RM; de Pádua Souza, Cristiano C; Campacci, Natalia N; Achatz, Maria Isabel MI; Brianese, Rafael Canfield RC; da Cruz Formiga, Maria Nirvana MN; Makdissi, Fabiana Baroni FB; Vargas, Fernando Regla FR; Evangelista Dos Santos, Anna Cláudia AC; Seuanez, Hector N HN; Lobo de Souza, Kelly Rose KR; Netto, Cristina B O CBO; Santos-Silva, Patrícia P; da Silva, Gustavo Stumpf GS; Burbano, Rommel M R RMR; Santos, Sidney S; Assumpção, Paulo Pimentel PP; Bernardes, Izabel Maria Monteiro IMM; Machado-Lopes, Taisa Manuela Bonfim TMB; Bomfim, Thais Ferreira TF; Toralles, Maria Betânia Pereira MBP; Nascimento, Ivana I; Garicochea, Bernardo B; Simon, Sergio D SD; Noronha, Simone S; de Lima, Fernanda Teresa FT; Chami, Anisse Marques AM; Bittar, Camila Matzenbacher CM; Bines, Jose J; Artigalas, Osvaldo O; Esteves-Diz, Maria Del Pilar MDP; Lajus, Tirzah Braz Petta TBP; Gifoni, Ana Carolina Leite Vieira Costa ACLVC; Guindalini, Rodrigo S C RSC; Cintra, Terezinha Sarquis TS; Schwartz, Ida V D IVD; Bernardi, Pricila P; Miguel, Diego D; Nogueira, Sonia Tereza Dos Santos STDS; Herzog, Josef J; Weitzel, Jeffrey N JN; Ashton-Prolla, Patricia P

Publication Date: 2018-06-15

Variant appearance in text: rs80358116

PubMed Link: 29907814

Variant Present in the following documents:

• 41598_2018_27315_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: BRCA1: 302-1G>T; rs80358116

PubMed Link: 28944232

Variant Present in the following documents:

• Main text
• MGG3-5-481.pdf

View BVdb publication page

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