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. Author manuscript; available in PMC: 2020 Aug 1.
Published in final edited form as: Eur Urol. 2018 Oct 4;76(2):170–176. doi: 10.1016/j.eururo.2018.09.040

Table 1 –

List of pathogenic homologous recombination deficiency (HRD) mutations

Sample ID Gene Origin of mutation Amino acid change Nucleotide change Mutation mechanism Type of analysis
02 BRCA2 Germline D3095E c.9285C>G Missense Germline + somatic
03 BRCA2 Somatic E1646Qfs*23 c.4936_4939delGAAA Frameshift deletion Germline + somatic
14 CHEK2 Somatic R519X* c.1555C>T Nonsense Germline + somatic
15 ATM Somatic E2014X* c.6040G>T Nonsense Germline + somatic
18 ATR Germline - c.2634-1G>A Splicing Germline only
19 FANCI Germline K808X* c.A2422T Nonsense Germline only
20 FANCL Somatic T372Nfs*4 c.A2422T Frameshift insertion Germline + somatic
29 PALB2 Somatic - c.212-2A>G Splicing Germline + somatic
31 FANCG Germline L53Afs*4 c.156insG Frameshift insertion Germline + somatic
32 BRCA2 Somatic S3147Cfs*2 c.9435_9436delGT Frameshift deletion Germline + somatic