Publications:

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Olaparib-Resistant BRCA2MUT Ovarian Cancer Cells with Restored BRCA2 Abrogate Olaparib-Induced DNA Damage and G2/M Arrest Controlled by the ATR/CHK1 Pathway for Survival.

Cells

Biegała, Łukasz Ł; Gajek, Arkadiusz A; Marczak, Agnieszka A; Rogalska, Aneta A

Publication Date: 2023-03-29

Variant appearance in text: BRCA1: 2082C>T; S694S

PubMed Link: 37048111

Variant Present in the following documents:

• cells-12-01038.pdf

View BVdb publication page

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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: BRCA1: 2082C>T

PubMed Link: 36865205

Variant Present in the following documents:

• media-8.xlsx, sheet 1
• media-10.xlsx, sheet 1

View BVdb publication page

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Adolescent triple-negative breast cancer with germline pathogenic variants in both BRCA1 and TP53 genes: A case report.

Frontiers In Oncology

Chen, Dongmei D; Zhang, Chenyang C; Yuan, Mengqi M; Zhang, Ying Y; Liu, Qing Q; Wan, Donggui D

Publication Date: 2022

Variant appearance in text: BRCA1: 2082C>T

PubMed Link: 36518309

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: BRCA1: S694S; rs1799949

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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: BRCA1: S694S

PubMed Link: 36460033

Variant Present in the following documents:

• mjac064_supplemental_file.pdf

View BVdb publication page

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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: BRCA1: 2082C>T; S694S; rs1799949

PubMed Link: 36409824

Variant Present in the following documents:

• can-22-0423_supplementary_table_s3_suppst3.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: BRCA1: 2082C>T

PubMed Link: 36385461

Variant Present in the following documents:

• IJC-152-1159-s009.xlsx, sheet 2
• IJC-152-1159-s012.xlsx, sheet 1
• IJC-152-1159-s009.xlsx, sheet 3
• IJC-152-1159-s006.xlsx, sheet 2
• IJC-152-1159-s001.xlsx, sheet 2
• IJC-152-1159-s002.xlsx, sheet 1
• IJC-152-1159-s001.xlsx, sheet 3

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: BRCA1: 2082C>T; Ser694=; rs1799949

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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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: BRCA1: S694S

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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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: BRCA1: S694S; rs1799949

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?

International Journal Of Oncology

Lavoro, Alessandro A; Scalisi, Aurora A; Candido, Saverio S; Zanghì, Guido Nicola GN; Rizzo, Roberta R; Gattuso, Giuseppe G; Caruso, Giuseppe G; Libra, Massimo M; Falzone, Luca L

Publication Date: 2022-05

Variant appearance in text: BRCA1: 2082C>T; Ser694=

PubMed Link: 35383859

Variant Present in the following documents:

• ijo-60-05-05349.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: BRCA1: 2082C>T

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: BRCA1: 2082C>T; S694S; rs1799949

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: BRCA1: 2082C>T; S694S; rs1799949

PubMed Link: 35218119

Variant Present in the following documents:

• CAS-113-1451-s002.xlsx, sheet 1

View BVdb publication page

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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs1799949

PubMed Link: 35112701

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-1-e20210172-s6.pdf
• 1415-4757-GMB-45-1-e20210172-s4.pdf
• 1415-4757-GMB-45-1-e20210172.pdf

View BVdb publication page

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Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology

Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M

Publication Date: 2022

Variant appearance in text: rs1799949

PubMed Link: 35112701

Variant Present in the following documents:

• Main text
• 1415-4757-GMB-45-1-e20210172-s6.pdf
• 1415-4757-GMB-45-1-e20210172-s4.pdf
• 1415-4757-GMB-45-1-e20210172.pdf

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: BRCA1: 2082C>T; S694=; rs1799949

PubMed Link: 34287479

Variant Present in the following documents:

• Main text
• cln-76-2837.pdf

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: BRCA1: 2082C>T; Ser694=

PubMed Link: 34242281

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted Sequencing of Taiwanese Breast Cancer with Risk Stratification by the Concurrent Genes Signature: A Feasibility Study.

Journal Of Personalized Medicine

Huang, Ching-Shui CS; Liu, Chih-Yi CY; Lu, Tzu-Pin TP; Huang, Chi-Jung CJ; Chiu, Jen-Hwey JH; Tseng, Ling-Ming LM; Huang, Chi-Cheng CC

Publication Date: 2021-06-28

Variant appearance in text: BRCA1: S694S; rs1799949

PubMed Link: 34203389

Variant Present in the following documents:

• Main text
• jpm-11-00613.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: BRCA1: 2082C>T; S694S; rs1799949

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Evolution of core archetypal phenotypes in progressive high grade serous ovarian cancer.

Nature Communications

Nath, Aritro A; Cosgrove, Patrick A PA; Mirsafian, Hoda H; Christie, Elizabeth L EL; Pflieger, Lance L; Copeland, Benjamin B; Majumdar, Sumana S; Cristea, Mihaela C MC; Han, Ernest S ES; Lee, Stephen J SJ; Wang, Edward W EW; Fereday, Sian S; Traficante, Nadia N; Salgia, Ravi R; Werner, Theresa T; Cohen, Adam L AL; Moos, Philip P; Chang, Jeffrey T JT; Bowtell, David D L DDL; Bild, Andrea H AH

Publication Date: 2021-05-24

Variant appearance in text: BRCA1: 2082C>T; S694S; rs1799949

PubMed Link: 34031395

Variant Present in the following documents:

• 41467_2021_23171_MOESM4_ESM.xlsx, sheet 8

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: BRCA1: S694S; rs1799949

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: BRCA1: S694S

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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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: BRCA1: 2082C>T; Ser694=; rs1799949

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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Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon.

Genes

Dobbin, Elizabeth Ayres Fragoso EAF; Medeiros, Jéssyca Amanda Gomes JAG; Costa, Marta Solange Camarinha Ramos MSCR; Rodrigues, Juliana Carla Gomes JCG; Guerreiro, João Farias JF; Kroll, José Eduardo JE; Souza, Sandro José de SJ; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Ândrea Â; Santos, Sidney Emanuel Batista Dos SEBD; Burbano, Rommel Mario Rodríguez RMR; Fernandes, Marianne Rodrigues MR; Santos, Ney Pereira Carneiro Dos NPCD

Publication Date: 2021-01-22

Variant appearance in text: rs1799949

PubMed Link: 33499154

Variant Present in the following documents:

• Main text
• genes-12-00142.pdf

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: BRCA1: 2082C>T; Ser694=

PubMed Link: 33078592

Variant Present in the following documents:

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

View BVdb publication page

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Analytical performance evaluation of a commercial next generation sequencing liquid biopsy platform using plasma ctDNA, reference standards, and synthetic serial dilution samples derived from normal plasma.

Bmc Cancer

Verma, Suman S; Moore, Mathew W MW; Ringler, Rebecca R; Ghosal, Abhisek A; Horvath, Kyle K; Naef, Theodore T; Anvari, Sheri S; Cotter, Philip D PD; Gunn, Shelly S

Publication Date: 2020-10-01

Variant appearance in text: BRCA1: Ser694Ser; rs1799949

PubMed Link: 33004033

Variant Present in the following documents:

• Main text

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: BRCA1: 2082C>T

PubMed Link: 32879886

Variant Present in the following documents:

• 6739823.f1.pdf

View BVdb publication page

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A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

Journal Of Medical Case Reports

García-Cárdenas, Jennyfer M JM; Zambrano, Ana Karina AK; Guevara-Ramírez, Patricia P; Guerrero, Santiago S; Runruil, Gabriel G; López-Cortés, Andrés A; Torres-Yaguana, Jorge P JP; Armendáriz-Castillo, Isaac I; Pérez-Villa, Andy A; Yumiceba, Verónica V; Leone, Paola E PE; Paz-Y-Miño, César C

Publication Date: 2020-08-31

Variant appearance in text: BRCA1: 2082C>T

PubMed Link: 32867815

Variant Present in the following documents:

• 13256_2020_2451_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Phase I dose-escalation and expansion study of PARP inhibitor, fluzoparib (SHR3162), in patients with advanced solid tumors.

Chinese Journal Of Cancer Research = Chung-Kuo Yen Cheng Yen Chiu

Li, Huiping H; Liu, Rongrui R; Shao, Bin B; Ran, Ran R; Song, Guohong G; Wang, Ke K; Shi, Yehui Y; Liu, Jihong J; Hu, Wenjing W; Chen, Fu F; Liu, Xiaoran X; Zhang, Gairong G; Zhao, Chuanhua C; Jia, Ru R; Wang, Quanren Q; Rugo, Hope S HS; Zhang, Yifan Y; Li, Guangze G; Xu, Jianming J

Publication Date: 2020-06

Variant appearance in text: BRCA1: 2082C>T

PubMed Link: 32694901

Variant Present in the following documents:

• Main text

View BVdb publication page

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Complex Characterization of Germline Large Genomic Rearrangements of the BRCA1 and BRCA2 Genes in High-Risk Breast Cancer Patients-Novel Variants from a Large National Center.

International Journal Of Molecular Sciences

Bozsik, Anikó A; Pócza, Tímea T; Papp, János J; Vaszkó, Tibor T; Butz, Henriett H; Patócs, Attila A; Oláh, Edit E

Publication Date: 2020-06-30

Variant appearance in text: BRCA1: 2082C>T

PubMed Link: 32629901

Variant Present in the following documents:

• Main text

View BVdb publication page

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Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset.

Movement Disorders : Official Journal Of The Movement Disorder Society

Schierding, William W; Farrow, Sophie S; Fadason, Tayaza T; Graham, Oscar E E OEE; Pitcher, Toni L TL; Qubisi, Sara S; Davidson, Alan J AJ; Perry, Jo K JK; Anderson, Tim J TJ; Kennedy, Martin A MA; Cooper, Antony A; O'Sullivan, Justin M JM

Publication Date: 2020-08

Variant appearance in text: rs1799949

PubMed Link: 32557794

Variant Present in the following documents:

• Main text
• MDS-35-1346.pdf

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: BRCA1: S694S; rs1799949

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: BRCA1: 2082C>T; Ser694=

PubMed Link: 32277576

Variant Present in the following documents:

• JCMM-24-4931-s010.xlsx, sheet 1

View BVdb publication page

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Screening, diagnosis and genetic study of breast cancer patients in Pakistan.

Pakistan Journal Of Medical Sciences

Majeed, Ayesha Isani AI; Ullah, Asmat A; Jadoon, Muniba M; Ahmad, Wasim W; Riazuddin, Sheikh S

Publication Date: 2020

Variant appearance in text: BRCA1: 2082C>T; Ser694Ser

PubMed Link: 32063924

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impressive effect of cisplatin monotherapy on a patient with heavily pretreated triple-negative breast cancer with poor performance.

Yeungnam University Journal Of Medicine

Baek, Dong Won DW; Park, Ji-Young JY; Lee, Soo Jung SJ; Chae, Yee Soo YS

Publication Date: 2020-07

Variant appearance in text: BRCA1: 2082C>T; Ser694=; rs1799949

PubMed Link: 31962039

Variant Present in the following documents:

• Main text
• yujm-2019-00423.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: BRCA1: 2082C>T; Ser694=; rs1799949

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: BRCA1: S694S; rs1799949

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 2
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.

Acta Neuropathologica Communications

Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C

Publication Date: 2019-08-30

Variant appearance in text: BRCA1: S694S; rs1799949

PubMed Link: 31470906

Variant Present in the following documents:

• 40478_2019_793_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia.

Hereditary Cancer In Clinical Practice

Cortés, Carolina C; Rivera, Ana Lucía AL; Trochez, David D; Solarte, Melissa M; Gómez, Daniela D; Cifuentes, Laura L; Barreto, Guillermo G

Publication Date: 2019

Variant appearance in text: BRCA1: 2082C>T; Ser694Ser

PubMed Link: 31341521

Variant Present in the following documents:

• Main text
• 13053_2019_Article_120.pdf

View BVdb publication page

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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: BRCA1: Ser694=; rs1799949

PubMed Link: 31331294

Variant Present in the following documents:

• 12885_2019_5950_MOESM1_ESM.xlsx, sheet 2
• 12885_2019_5950_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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