Leiden University Scholarly Publications

Schreurs, M.A.C.; Schmidt, M.K.; Hollestelle, A.; Schaapveld, M.; Asperen, C.J. van; Ausems, M.G.E.M.; ... ; Hereditary Breast Ovarian Canc Res Grp Netherlands (2024)

Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

Article / Letter to editor

PurposeFemale CHEK2 c.1100delC heterozygotes are eligible for additional breast surveillance because of an increased breast cancer risk. Increased risks for other cancers have been reported. We studied whether CHEK2 c.1100delC is associated with an increased risk for other cancers within these families.MethodsIncluding 10,780 individuals from 609 families, we calculated standardized incidence rates (SIRs) and absolute excess risk (AER, per 10,000 person-years) by comparing first-reported cancer derived from the pedigrees with general Dutch population rates from 1970 onward. Attained-age analyses were performed for sites in which significant increased risks were found. Considering the study design, we primarily focused on cancer risk in women....Show morePurposeFemale CHEK2 c.1100delC heterozygotes are eligible for additional breast surveillance because of an increased breast cancer risk. Increased risks for other cancers have been reported. We studied whether CHEK2 c.1100delC is associated with an increased risk for other cancers within these families.MethodsIncluding 10,780 individuals from 609 families, we calculated standardized incidence rates (SIRs) and absolute excess risk (AER, per 10,000 person-years) by comparing first-reported cancer derived from the pedigrees with general Dutch population rates from 1970 onward. Attained-age analyses were performed for sites in which significant increased risks were found. Considering the study design, we primarily focused on cancer risk in women.ResultsWe found significant increased risks of colorectal cancer (CRC; SIR = 1.43, 95% CI = 1.14-1.76; AER = 1.43) and hematological cancers (SIR = 1.32; 95% CI = 1.02-1.67; AER = 0.87). CRC was significantly more frequent from age 45 onward.ConclusionA significantly increased risk of CRC, and hematological cancers in women was found, starting at a younger age than expected. Currently, colorectal surveillance starts at age 45 in high-risk individuals. Our results suggest that some CHEK2 c.1100delC families might benefit from this surveillance as well; however, further research is needed to determine who may profit from this additional colorectal surveillance.Show less

Breast cancer

CHEK2 c.1100delC

Colorectal cancer

Hematological cancer

Pedigrees

All authors

Schreurs, M.A.C.; Schmidt, M.K.; Hollestelle, A.; Schaapveld, M.; Asperen, C.J. van; Ausems, M.G.E.M.; Beek, I. van de; Broekema, M.F.; Collée, J.M.; Hout, A.H. van der; Kaam, K.J.A.F. van; Komdeur, F.L.; Mensenkamp, A.R.; Adank, M.A.; Hooning, M.J.; Hereditary Breast Ovarian Canc Res Grp Netherlands

Date

2024-09-30

Journal

Genetics in Medicine

Volume

26

Issue

9

DOI

doi:10.1016/j.gim.2024.101171

Link

http://www.sciencedirect.com/science/article/pii/S1098360024001059?via%...