Article
Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer.
Scientific reports - 28 Jan 2021
Elkholi Islam E, Di Iorio Massimo, Fahiminiya Somayyeh, Arcand Suzanna L, Han HyeRim, Nogué Clara, Behl Supriya, Hamel Nancy, Giroux Sylvie, de Ladurantaye Manon, Aleynikova Olga, Gotlieb Walter H, Côté Jean-François, Rousseau François, Tonin Patricia N, Provencher Diane, MesMasson Anne-Marie, Akbari Mohammad R, Rivera Barbara, Foulkes William D
Abstract excerpt
The nuclease MRE11A is often included in genetic test panels for hereditary breast and ovarian cancer (HBOC) due to its BRCA1-related molecular function in the DNA repair pathway. However, whether MRE11A is a true predisposition gene for HBOC is still questionable. We determined to investigate this notion by dissecting the molecular genetics of the c.1516G > T;p.E506* truncating MRE11A variant, that we pinpointed...
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