Article
Characterization of BRCA2 R3052Q variant in mice supports its functional impact as a low-risk variant.
Cell death & disease - 18 Nov 2023
Mishra Arun Prakash, Hartford Suzanne, Chittela Rajani Kant, Sahu Sounak, Kharat Suhas S, Alvaro-Aranda Lucia, Contreras-Perez Aida, Sullivan Teresa, Martin Betty K, Albaugh Mary, Southon Eileen, Burkett Sandra, Karim Baktiar, Carreira Aura, Tessarollo Lino, Sharan Shyam K
Abstract excerpt
Pathogenic variants in BRCA2 are known to significantly increase the lifetime risk of developing breast and ovarian cancers. Sequencing-based genetic testing has resulted in the identification of thousands of BRCA2 variants that are considered to be variants of uncertain significance (VUS) because the disease risk associated with them is unknown. One such variant is p.Arg3052Gln, which has conflicting...
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