Publications:

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: 441+51T>C

PubMed Link: 36865205

Variant Present in the following documents:

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

View BVdb publication page

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: 441+51T>C

PubMed Link: 36385461

Variant Present in the following documents:

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

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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: 441+51T>C; rs578250989

PubMed Link: 31331294

Variant Present in the following documents:

• 12885_2019_5950_MOESM1_ESM.xlsx, sheet 1
• 12885_2019_5950_MOESM1_ESM.xlsx, sheet 3

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Increased frequency of germline BRCA2 mutations associates with prostate cancer metastasis in a racially diverse patient population.

Prostate Cancer And Prostatic Diseases

Petrovics, Gyorgy G; Price, Douglas K DK; Lou, Hong H; Chen, Yongmei Y; Garland, Lisa L; Bass, Sara S; Jones, Kristine K; Kohaar, Indu I; Ali, Amina A; Ravindranath, Lakshmi L; Young, Denise D; Cullen, Jennifer J; Dorsey, Tiffany H TH; Sesterhenn, Isabell A IA; Brassell, Stephen A SA; Rosner, Inger L IL; Ross, Doug D; Dahut, William W; Ambs, Stefan S; Figg, William Douglas WD; Srivastava, Shiv S; Dean, Michael M

Publication Date: 2019-09

Variant appearance in text: rs578250989

PubMed Link: 30542053

Variant Present in the following documents:

• 41391_2018_114_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

Next Generation Sequencing Reveals High Prevalence of BRCA1 and BRCA2 Variants of Unknown Significance in Early-Onset Breast Cancer in African American Women.

Ethnicity & Disease

Ricks-Santi, Luisel L; McDonald, J Tyson JT; Gold, Bert B; Dean, Michael M; Thompson, Nicole N; Abbas, Muneer M; Wilson, Bradford B; Kanaan, Yasmine Y; Naab, Tammey J TJ; Dunston, Georgia G

Publication Date: 2017

Variant appearance in text: BRCA1: 441+51T>C

PubMed Link: 28439188

Variant Present in the following documents:

• Main text

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