From: Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study
Variable | N (%)a | Â |
---|---|---|
Sex | ||
 Male | 22 (30) |  |
 Female | 52 (70) |  |
Race/Ethnicity | ||
 White/Non-Hispanic | 44 (60) |  |
 White/Hispanic | 2 (3) |  |
 White/Unknown | 20 (27) |  |
 Unknown/Hispanic | 2 (3) |  |
 Native American/Non-Hispanic | 1 (1) |  |
 Native American/Unknown | 1 (1) |  |
 Asian/Non-Hispanic | 1 (1) |  |
 Unknown/Unknown | 3 (4) |  |
Genetic Alteration Statusa | ||
 MLH1 | 19 (23) |  |
 MSH2 | 27 (37) |  |
 MSH6 | 12 (16) |  |
 PMS2 | 11 (15) |  |
 EPCAM | 5 (7) |  |
Genetic Alteration Typeb | ||
 Splicing Variant | 11 (16) |  |
 Missense | 10 (14) |  |
 Nonsense | 15 (21) |  |
 Frameshift | 17 (24) |  |
 Small deletion | 1 (1) |  |
 Promoter hypermethylatio | 1 (1) |  |
 Large deletion | 16 (23) |  |
Number of Malignancies Preceding LS diagnosis | ||
 One LS-Related Malignancy | 37 (50) |  |
 Two or more LS-Related Malignancies | 10 (14) |  |
Type of LS-Related Malignancies Preceding LS diagnosis | ||
 Colorectal Cancer | 36 (49) |  |
 Endometrial Cancer | 10 (26)c |  |
 Ovarian Cancer | 5 (14)d |  |
 Breast Cancer | 5 (10)e |  |
 Sebaceous Gland Skin Tumors | 3 (4) |  |
 Pancreatic Cancer | 1 (1) |  |
Variable | Mean ± SD | Range |
 Age at LS Diagnosis | 50.6 ± 13.9 | 19–79 |