Table 2.

Genotype–phenotype correlation in MSH2 mutation carriers

Punctual (truncating)Rearrangements (founder)Statistical comparisonP
Number of families87  
Number of affected1915
Males, n (%)10 (52.6)6 (40)
n (%)n (%)
Number of tumorsSeveral tumors (yes/no)1.0000
 1 tumor11 (57.9)8 (53.3)
 >1 tumor8 (42.1)7 (46.7)
Tumor type
 Colon (CRC)17 (58.6)13 (50.0)CRC/EC0.4727
 Endometrial cancer (EC)4 (13.8)6 (23.1)
 Urinary system (US)2 (6.9)7 (26.9)CRC/US
 Other cancers6 (20.7)0.1247
Age at diagnosis, y
 <5015 (78.9)11 (73.3%)Age at diagnosis <50 (yes/no)1.0000
 >504 (21.1)4 (26.7%)
Age at diagnosis, yAverage (SD)aAverage (SD)a
 Total (males and females)46.37 ± 10.7540.13 ± 10.46Average age0.0987
 CRC (males)46.71 ± 6.2440.67 ± 9.05Median age0.1827
 CRC (females)50.00 ± 23.7233.00 ± 6.89Median age0.1657
 Endometrial (females)43.00 ± 1.4150.75 ± 7.37Median age0.2357
  • NOTE: aStandard deviation.