High tumor mutation burden is associated with DNA damage repair gene mutation in breast carcinomas

Diagnostic Pathology

Table 4 Three breast carcinoma cases with high TMB

Case	Age (yr)	Phenotype	ER	HER2	Gene mutations	TMB (#/MB)
1	70	Lobular	95	Negative	PIK3CA,*PTEN*, ARID1A, CDH1, CHD4, FAM123B, SMAD4, TP53	33
2	50	Ductal, NOS	90	Negative	MAGI2*, PIK3C2B, PIK3CA, PIK3R1, SPEN, TP53	61
3	57	Ductal, NOS	99	Negative	ERBB4, ESR1, GATA3, IGF1R,MAGI2**, PAX5	20

Notes: *MAGI2 S220*; **MAGI2 Q1193fs*35
Abbreviations: ER estrogen receptor, PR progesterone receptor, TMB tumor mutation burden

ISSN: 1746-1596