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Table 1 Truncating and putative pathogenic missense mutations in the PALB2 gene revealed by NGS of samples from 460 breast cancer patients

From: PALB2 mutations in BRCA1/2-mutation negative breast and ovarian cancer patients from Poland

Exon PALB2 cDNA change Protein change Age at diagnosis (years) Family history
3 c.172_175delTTGT p.Gln60Argfs BR62 I- BR63, II- BR70
BR48 I- BR58
BR30 I- GC68, II- THYR60
BR40 I- BR50, MEL60, PR85
4 c.347insT p.Leu116fs BR40 Not reported
c.509_510delGA p.Arg170Ilefs BR59 I- BR66, II- BR40
BR32 I- BR38
  1. I and II indicate first and second degree relatives, respectively; BR breast cancer, GC gastric cancer, THYR thyroid cancer, MEL melanoma, PR prostate cancer