Missense PALB2 germline variant disrupts nuclear localization of PALB2 in a patient with breast cancer

In conclusion, our studies provided the functional evidence showing the deleterious effect of c.3251C>T, and non-deleterious effects of c.1054G>C and c.1057A>G. Using the ClinGen Pathogenicity calculator, c.3251C>T remains a VUS while c.1054G>C and c.1057A>G may be classified as likely benign variants.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research