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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
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BMC Medical Genomics

ISSN: 1755-8794

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