Article
The "extreme phenotype approach" applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles.
Oncotarget - 7 Feb 2023
Chevarin Martin, Alcantara Diana, Albuisson Juliette, Collonge-Rame Marie-Agnès, Populaire Céline, Selmani Zohair, Baurand Amandine, Sawka Caroline, Bertolone Geoffrey, Callier Patrick, Duffourd Yannis, Jonveaux Philippe, Bignon Yves-Jean, Coupier Isabelle, Cornelis François, Cordier Christophe, Mozelle-Nivoix Monique, Rivière Jean-Baptiste, Kuentz Paul, Thauvin Christel, Boidot Romain, Ghiringhelli François, O'Driscoll Marc, Faivre Laurence, Nambot Sophie
Abstract excerpt
In oncogenetics, some patients could be considered as "extreme phenotypes", such as those with very early onset presentation or multiple primary malignancies, unusually high numbers of cancers of the same spectrum or rare cancer types in the same parental branch. For these cases, a genetic predisposition is very likely, but classical candidate gene panel analyses often and frustratingly remains negative. In the...
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