Skip to main content

Table 2 Characterisation of BRCA1 and 2 mutations of males included within this study

From: Genotypic and phenotypic analysis of familial male breast cancer shows under representation of the HER2 and basal subtypes in BRCA-associated carcinomas

Gene

Mutation

Effect

BRCA1

BRCA1 del exons 21_24

LGR

 

BRCA1 2798_2801 del GAAA (STOP 998)

P

 

BRCA1 5382_5383 ins C (STOP 1829)

P

BRCA2

BRCA2 del exons 1_2

LGR

 

BRCA2 del exons 14_16

LGR

 

BRCA2 2988 del C (STOP 959)

P

 

BRCA2 2988 del C (STOP 959)

P

 

BRCA2 5873 C>A (S1882X)

P

 

BRCA2 5950_5951 del CT (STOP 1909)

P

 

BRCA2 5950_5951 del CT (STOP 1909)

P

 

BRCA2 6024_6025 del TA (STOP 1943)

P

 

BRCA2 6503_6504 del TT (STOP 2098)

P

 

BRCA2 6714_6717 del ACAA (STOP 2166)

P

 

BRCA2 6854_6855 del TA (STOP 2223)

P

 

BRCA2 6971_6983 del ATGCCACACATTC (STOP 2275)

P

 

BRCA2 698_702 del AGTCA (STOP 180)

P

 

BRCA2 7708 C>T (R2494X)

P

 

BRCA2 8168_8169 ins C (STOP 2661)

P

 

BRCA2 9132 del C (STOP 2975).

P

 

BRCA2 9161 C>A (S2978X)

P

 

BRCA2 9610 C>T (R3128X)

P

 

BRCA2 9610 C>T (R3128X)

P

 

BRCA2 983_986 del ACAG (STOP 275)

P

 

BRCA2 995 del C (STOP 276)

P

 

BRCA2 del exons 1_27

P

 

BRCA2 IVS 7–1 G>A

P

 

P BRCA2 8525 del C (STOP 2776).

P

 

BRCA2 8714 A>G (del exon 19)

UV

  1. Classification of Variants: P = Pathogenic, LGR = Large Genomic Rearrangement, UV = Unclassified Variant.