Publications:

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: 4752C>G

PubMed Link: 36385461

Variant Present in the following documents:

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

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BRCA1/2 Mutation Detection in the Tumor Tissue from Selected Polish Patients with Breast Cancer Using Next Generation Sequencing.

Genes

Szczerba, Ewelina E; Kamińska, Katarzyna K; Mierzwa, Tomasz T; Misiek, Marcin M; Kowalewski, Janusz J; Lewandowska, Marzena Anna MA

Publication Date: 2021-04-02

Variant appearance in text: BRCA1: 4752C>G

PubMed Link: 33918338

Variant Present in the following documents:

• Main text

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High-frequency actionable pathogenic exome variants in an average-risk cohort.

Cold Spring Harbor Molecular Case Studies

Rego, Shannon S; Dagan-Rosenfeld, Orit O; Zhou, Wenyu W; Sailani, M Reza MR; Limcaoco, Patricia P; Colbert, Elizabeth E; Avina, Monika M; Wheeler, Jessica J; Craig, Colleen C; Salins, Denis D; Röst, Hannes L HL; Dunn, Jessilyn J; McLaughlin, Tracey T; Steinmetz, Lars M LM; Bernstein, Jonathan A JA; Snyder, Michael P MP

Publication Date: 2018-12

Variant appearance in text: BRCA1: 4752C>G

PubMed Link: 30487145

Variant Present in the following documents:

• supp_mcs.a003178_Supplemental_File_1.xlsx, sheet 1

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Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.

Oncotarget

Enyedi, Márton Zsolt ; Jaksa, Gábor G; Pintér, Lajos L; Sükösd, Farkas F; Gyuris, Zoltán Z; Hajdu, Adrienn A; Határvölgyi, Erika E; Priskin, Katalin K; Haracska, Lajos L

Publication Date: 2016-09-20

Variant appearance in text: BRCA1: 4752C>G

PubMed Link: 27533253

Variant Present in the following documents:

• Main text
• oncotarget-07-61845.pdf

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Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory.

Plos One

Strom, Charles M CM; Rivera, Steven S; Elzinga, Christopher C; Angeloni, Taraneh T; Rosenthal, Sun Hee SH; Goos-Root, Dana D; Siaw, Martin M; Platt, Jamie J; Braastadt, Cory C; Cheng, Linda L; Ross, David D; Sun, Weimin W

Publication Date: 2015

Variant appearance in text: BRCA1: 4752C>G

PubMed Link: 26295337

Variant Present in the following documents:

• Main text
• pone.0136419.pdf

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