Publications:

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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: 5175A>G

PubMed Link: 36865205

Variant Present in the following documents:

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

View BVdb publication page

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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: rs191373374

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 2

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: 5175A>G; Glu1725=; rs191373374

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 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: 5175A>G; E1725E

PubMed Link: 34242281

Variant Present in the following documents:

• Main text
• pone.0254101.s001.pdf
• pone.0254101.pdf

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: E1725E

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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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: BRCA1: 5175A>G

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

View BVdb publication page

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Accurate classification of BRCA1 variants with saturation genome editing.

Nature

Findlay, Gregory M GM; Daza, Riza M RM; Martin, Beth B; Zhang, Melissa D MD; Leith, Anh P AP; Gasperini, Molly M; Janizek, Joseph D JD; Huang, Xingfan X; Starita, Lea M LM; Shendure, Jay J

Publication Date: 2018-10

Variant appearance in text: BRCA1: 5175A>G; E1725=

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: BRCA1: 5175A>G; Glu1725=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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BRCA1 and BRCA2 unclassified variants and missense polymorphisms in Algerian breast/ovarian cancer families.

Disease Markers

Cherbal, Farid F; Salhi, Nadjet N; Bakour, Rabah R; Adane, Saida S; Boualga, Kada K; Maillet, Philippe P

Publication Date: 2012

Variant appearance in text: BRCA1: 5175A>G

PubMed Link: 22684231

Variant Present in the following documents:

• DM32-06-234136.pdf

View BVdb publication page

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BRCA1 and BRCA2 germline mutations screening in Algerian breast/ovarian cancer families.

Disease Markers

Cherbal, Farid F; Bakour, Rabah R; Adane, Saida S; Boualga, Kada K; Benais-Pont, Gaelle G; Maillet, Philippe P

Publication Date: 2010

Variant appearance in text: BRCA1: 5175A>G

PubMed Link: 20683152

Variant Present in the following documents:

• DM28-06-585278.pdf

View BVdb publication page

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BRCA1 mutations in Algerian breast cancer patients: high frequency in young, sporadic cases.

International Journal Of Medical Sciences

Uhrhammer, Nancy N; Abdelouahab, Amina A; Lafarge, Laurence L; Feillel, Viviane V; Ben Dib, Ahmed A; Bignon, Yves-Jean YJ

Publication Date: 2008-07-08

Variant appearance in text: BRCA1: 5175A>G; Glu1725Glu

PubMed Link: 18645608

Variant Present in the following documents:

• Main text
• ijmsv05p0197.pdf

View BVdb publication page

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