Publications:

Functional pre-therapeutic evaluation by genome editing of variants of uncertain significance of essential tumor suppressor genes.

Genome Medicine

Billaud, Amandine A; Chevalier, Louise-Marie LM; Augereau, Paule P; Frenel, Jean-Sebastien JS; Passot, Christophe C; Campone, Mario M; Morel, Alain A

Publication Date: 2021-11-09

Variant appearance in text: BRCA1: 5268G>A; Gln1756=

PubMed Link: 34749799

Variant Present in the following documents:

• 13073_2021_976_MOESM1_ESM.pdf

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Prevalence of MMTV-Like env Sequences and Its Association with BRCA1/2 Genes Mutations Among Egyptian Breast Cancer Patients.

Cancer Management And Research

Loutfy, Samah A SA; Abdallah, Zeinab F ZF; Shaalan, Mohamed M; Moneer, Mohamed M; Karam, Adel A; Moneer, Manar M MM; Sayed, Ibrahim M IM; Abd El-Hafeez, Amer Ali AA; Ghosh, Pradipta P; Zekri, Abdel-Rahman N AN

Publication Date: 2021

Variant appearance in text: rs571834423

PubMed Link: 33814932

Variant Present in the following documents:

• Main text
• cmar-13-2835.pdf

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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: 5268G>A; Q1756=

PubMed Link: 30209399

Variant Present in the following documents:

• NIHMS1501643-supplement-2.xlsx, sheet 1

View BVdb publication page