Table 1.
BRCA1/BRCA2 mutation-negative Spanish high risk breast/ovarian cancer families with pancreatic cancer cases.
Figure 1.
Pedigrees of the families carrying the mutations.
a) c.1653T>A (p.Tyr551Stop); b) c.3362del (p.Glu1121ValfsX3). Cancer diagnoses are indicated in affected patients; in brackets the age at diagnosis or exitus. The arrow indicates the index case analyzed. BC breast cancer, PC Pancreatic Cancer, CCR Colorectal cancer, CNS central nervous system cancer.
Table 2.
PALB2 sequence variants identified in 132 Spanish breast/ovarian cancer families with pancreatic cancer cases.
Table 3.
Results of bioinformatic analysis for PALB2 variants.
Table 4.
Overview of literature on role of PALB2 mutations in FPC and in BC families affected by PC (BC-PC families).