Table 2

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

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

Deb et al.

Deb et al. BMC Cancer 2012 12:510   doi:10.1186/1471-2407-12-510

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