Table 2.
Germline heterozygous variants identified in cases and controls.
| Gene | HGVS Nomenclature | Controls | Cases | p-value* | ||
|---|---|---|---|---|---|---|
| Males | Females | All | ||||
| BRCA1 | c.962 G > A | 0/879 | 0/875 | 0/1754 | 0/522 | |
| c.1016dupA | 0/971 | 0/969 | 0/1940 | 0/555 | ||
| c.1961dupA | 0/971 | 0/969 | 0/1940 | 0/555 | ||
| c.2125_2126insA | 0/965 | 0/965 | 0/1930 | 1/555 | 0.365 | |
| c.2834_2836delGTAinsC | 0/971 | 0/969 | 0/1940 | 0/555 | ||
| c.3649_3650insA | 0/971 | 0/963 | 0/1934 | 0/553 | ||
| c.3756_3759delGTCT | 0/971 | 0/969 | 0/1940 | 0/555 | ||
| c.4327 C > T | 2/971 | 0/969 | 2/1939 | 3/552 | 0.048 | |
| c.5102_5103delTG | 0/971 | 0/968 | 0/1939 | 0/555 | ||
| c.1054 G > T | 0/969 | 0/966 | 0/1935 | 0/553 | ||
| c.5536 C > T | 0/969 | 0/968 | 0/1937 | 0/555 | ||
| All variants | 2 | 0 | 2 | 4 | 0.017 | |
| BRCA2 | c.2588dupA | 0/971 | 0/968 | 0/1939 | 1/555 | 0.364 |
| c.2806_2809delAAAC | 0/970 | 0/969 | 0/1939 | 0/555 | ||
| c.3170_3174delAGAAA | 1/945 | 0/952 | 1/1897 | 6/547 | 0.002 | |
| c.3545_3546delTT | 0/968 | 0/965 | 0/1933 | 2/550 | 0.132 | |
| c.5857 G > T | 1/970 | 0/966 | 1/1936 | 1/555 | 0.365 | |
| c.6275_6276delTT | 0/970 | 0/968 | 0/1938 | 0/555 | ||
| c.8537_8538delAG | 0/927 | 0/912 | 0/1839 | 7/536 | <0.001 | |
| c.9004 G > A | 1/970 | 0/967 | 1/1937 | 0/554 | ||
| All variants | 3 | 0 | 3 | 17 | <0.001 | |
| PALB2 | c.2323 C > T | 0/1000 | 0/1000 | 0/2000 | 0/582 | |
| 0 | 0 | 0 | 0 | |||
*The female controls and cases were compared using Fisher’s Exact Test.