Table 4.
patients who underwent genetic testing (n = 127) | |
---|---|
test category | % |
BRCA1/2 comprehensive sequencing | 42 |
MLH1/MSH2 sequencing | 52 |
APC protein truncation test | 2 |
othersa | 4 |
patients with germline deleterious mutation identified (n = 29) | % |
BRCA1/2 mutation | 59 |
MLH1/MSH2 mutation | 31 |
APC mutation | 3 |
othersb | 7 |
aothers: comprehensive sequencing and rearrangement analysis for von Hippel Lindau (2), karyotyping for Turner's syndrome (1), sequencing for E-cadherin gene mutation (1), sequencing for SDHD gene mutation (1); bothers: Turner's syndrome (1), SDHD deleterious mutation (1)