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Table 2 Germline and somatic mutations in BRCA1 and BRCA2

From: Landscape of genomic alterations in high-grade serous ovarian cancer from exceptional long- and short-term survivors

Patient ID Group Germline/somatic Gene Protein Change MAF (normal) MAF (tumor) Pathogenic/Tolerated LOH COSMIC
LTS-004 LT Germline BRCA1 p.Q1111fs 0.42 0.75 Pathogenic yes  
LTS-012 LT Germline BRCA1 p.V299fs 0.55 0.65 Pathogenic yes  
LTS-017 LT Germline BRCA1 p.NIP1236fs 0.49 0.9 Pathogenic yes  
LTS-019 LT Germline BRCA1 p.W1815* 0.45 0.85 Pathogenic yes  
LTS-022 LT Somatic BRCA1 p.W1712* 0 0.5 Pathogenic yes  
LTS-025 LT Germline BRCA1 p.S267fs 0.43 0.87 Pathogenic yes  
LTS-029 LT Germline BRCA1 p.Q1756fs 0.46 0.91 Pathogenic yes  
LTS-007 LT Germline BRCA2 p.V2527fs 0.32 0.43 Pathogenic no  
LTS-013 LT Somatic BRCA2 p.TD1867fs 0 0.59 Pathogenic yes  
LTS-021 LT Somatic BRCA2 p.N991D 0 0.74 Tolerated yes yes
LTS-023 LT Somatic BRCA2 p.S2835P 0 0.81 Tolerated yes yes
LTS-031 LT Germline BRCA2 p.D2242fs 0.65 0.68 Pathogenic yes  
LTS-038 ST Somatic BRCA2 p.P2257S 0 0.15 Tolerated no no