. Author manuscript; available in PMC: 2020 Apr 1.

Published in final edited form as: Fam Cancer. 2019 Apr;18(2):211–219. doi: 10.1007/s10689-018-00117-1

Table 2:

Cumulative risk (CR) of CRC and/or EC by MMR gene (studies from 2013-2018)

Reference	Number of families or patients	Genes	70-year CR of CRC % (95% CI)^*	70-year CR of EC % (95% CI)^*
Dowty (2013)⁶³	166 MLH1 and 224 MSH2 families (CCFR)	MLH1 MSH2	MLH1 - (M): 34% (25-50) - (F): 36%(25-51) MSH2 - (M): 47% (36-60) - (F): 37%(27-50)	MLH1: 18% (9.1-34) MSH2: 30% (18-45)
Møller 2018)⁶⁴	3119 LS patients (PLSD, European)	MLH1 MSH2 MSH6 PMS2	MLH1: 40.1% (33.5-46.7) MSH2: 40.8% (31.6-50.1) MSH6: 15.0% (3.3 to 26.6) PMS2: 0	MLH1: 40.3% (31.5-49.1) MSH2: 52.7% (38.7-66.8) MSH6: 46.3% (27.3-65.0) PMS2: 26.4% (0.8-51.9)
Sanchez (2018)⁶⁵	1,108 LS patients (Spain)	MLH1 MSH2 MSH6 PMS2	MLH1: 25.6% (13.2-38.2) MSH2: 22.1% (11.3 – 35.1) MSH6: 6.3% (0-12.8) PMS2: 25.9% (7-71)	Not studied
ten Broeke (2018)⁵¹	284 families with PMS2 variants (European, Ohio State, CCFR)	PMS2	PMS2:^* - (M): 13% (7.9-22) - (F): 13% (7.0-24)	PMS2:^* 13% (7.0-24)

ten Broeke series reported cumulative risk at 80 years, not 70

CCFR, Colon Cancer Family Registry; CI, confidence interval; CRC, colorectal cancer; EC, endometrial cancer; F, female; M, male; MLH1, MutL homolog 1; MSH2, MutS homolog 2; MSH6 MutS Homolog 6; PLSD, Prospective Lynch Syndrome Database; PMS2, PMS1 homolog 2