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

Table 2 Germline and somatic mutations in BRCA1 and BRCA2

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

ISSN: 1756-994X