Article
Contribution of the PALB2 c.2323C>T [p.Q775X] founder mutation in well-defined breast and/or ovarian cancer families and unselected ovarian cancer cases of French Canadian descent.
BMC medical genetics - 9 Jan 2013
Tischkowitz Marc, Sabbaghian Nelly, Hamel Nancy, Pouchet Carly, Foulkes William D, Mes-Masson Anne-Marie, Provencher Diane M, Tonin Patricia N
Abstract excerpt
BACKGROUND: The PALB2 c.2323C>T [p.Q775X] mutation has been reported in at least three breast cancer families and breast cancer cases of French Canadian descent and this has been attributed to common ancestors. The number of mutation-positive cases reported varied based on criteria of ascertainment of index cases tested. Although inherited PALB2 mutations are associated with increased risks of developing breast...
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