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

Maartje A.C. Schreurs; Marjanka K. Schmidt; The Hereditary Breast and Ovarian Cancer Research Group Netherlands; Antoinette Hollestelle; Michael Schaapveld; Christi J. van Asperen; M. G.E.M. Ausems; Irma van de Beek; Marjoleine F. Broekema; J. Margriet Collée; Annemieke H. van der Hout; Kim J.A.F. van Kaam; Fenne L. Komdeur; A. R. Mensenkamp; Muriel A. Adank; Maartje J. Hooning

doi:10.1016/j.gim.2024.101171

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

Maartje A.C. Schreurs
, Marjanka K. Schmidt
, The Hereditary Breast and Ovarian Cancer Research Group Netherlands
, Antoinette Hollestelle
, Michael Schaapveld
, Christi J. van Asperen
, M. G.E.M. Ausems
, Irma van de Beek
, Marjoleine F. Broekema
, J. Margriet Collée
, Annemieke H. van der Hout
, Kim J.A.F. van Kaam
, Fenne L. Komdeur
, A. R. Mensenkamp
, Muriel A. Adank
, Maartje J. Hooning^*

^*Corresponding author for this work

Netherlands Cancer Institute
Leiden University
Utrecht University
Amsterdam UMC
University Medical Centre Groningen
Maastricht University
Radboud University Medical Center
University Medical Centre Utrecht

Research output: Contribution to journal › Article › Academic › peer-review

14 Citations (Scopus)

203 Downloads (Pure)

Abstract

Purpose:

Female 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.

Methods:

Including 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.

Results:

We 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.

Conclusion:

A 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.

Original language	English
Article number	101171
Journal	Genetics in Medicine
Volume	26
Issue number	9
DOIs	https://doi.org/10.1016/j.gim.2024.101171
Publication status	Published - Sept 2024

Bibliographical note

Publisher Copyright:
© 2024 The Authors

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Cancer risks for other sites in addition to breast in CHEK2 c.1100delC familiesFinal published version, 559 KBLicence: CC BY

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Schreurs, M. A. C., Schmidt, M. K., The Hereditary Breast and Ovarian Cancer Research Group Netherlands, Hollestelle, A., Schaapveld, M., van Asperen, C. J., Ausems, M. G. E. M., van de Beek, I., Broekema, M. F., Margriet Collée, J., van der Hout, A. H., van Kaam, K. J. A. F., Komdeur, F. L., Mensenkamp, A. R., Adank, M. A., & Hooning, M. J. (2024). Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families. Genetics in Medicine, 26(9), Article 101171. https://doi.org/10.1016/j.gim.2024.101171

@article{74347ada05014991b1de44f2115f33cb,

title = "Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families",

abstract = "Purpose: Female 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. Methods:Including 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. Results: We 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. Conclusion: A 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.",

author = "Schreurs, \{Maartje A.C.\} and Schmidt, \{Marjanka K.\} and \{The Hereditary Breast and Ovarian Cancer Research Group Netherlands\} and Antoinette Hollestelle and Michael Schaapveld and \{van Asperen\}, \{Christi J.\} and Ausems, \{M. G.E.M.\} and \{van de Beek\}, Irma and Broekema, \{Marjoleine F.\} and \{Margriet Coll{\'e}e\}, J. and \{van der Hout\}, \{Annemieke H.\} and \{van Kaam\}, \{Kim J.A.F.\} and Komdeur, \{Fenne L.\} and Mensenkamp, \{A. R.\} and Adank, \{Muriel A.\} and Hooning, \{Maartje J.\} and Hogervorst, \{F. B.L.\} and \{van Leeuwen\}, \{F. E.\} and Adank, \{M. A.\} and Schmidt, \{M. K.\} and Stommel-Jenner, \{D. J.\} and \{de Groot\}, R. and E. Vieveen and Coll{\'e}e, \{J. M.\} and W. Geurts-Giele and Heemskerk-Gerritsen, \{B. A.M.\} and Hooning, \{Maartje J.\} and Boere, \{I. A.\} and \{van Asperen\}, \{C. J.\} and P. Devilee and \{van der Luijt\}, \{R. B.\} and Wevers, \{M. R.\} and Mensenkamp, \{A. R.\} and \{de Hullu\}, \{J. A.\} and Ausems, \{M. G.E.M.\} and Koudijs, \{M. J.\} and W. Koole and \{van Engelen\}, K. and Gille, \{J. J.P.\} and \{G{\'o}mez Garc{\'i}a\}, \{E. B.\} and Blok, \{M. J.\} and Berger, \{L. P.V.\} and \{van der Hout\}, \{A. H.\} and \{de Bock\}, \{G. H.\} and R. Yigit and S. Siesling and J. Verloop and Voorham, \{Q. J.M.\}",

note = "Publisher Copyright: {\textcopyright} 2024 The Authors",

year = "2024",

month = sep,

doi = "10.1016/j.gim.2024.101171",

language = "English",

volume = "26",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Elsevier",

number = "9",

}

Schreurs, MAC, Schmidt, MK, The Hereditary Breast and Ovarian Cancer Research Group Netherlands, Hollestelle, A, Schaapveld, M, van Asperen, CJ, Ausems, MGEM, van de Beek, I, Broekema, MF, Margriet Collée, J, van der Hout, AH, van Kaam, KJAF, Komdeur, FL, Mensenkamp, AR, Adank, MA & Hooning, MJ 2024, 'Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families', Genetics in Medicine, vol. 26, no. 9, 101171. https://doi.org/10.1016/j.gim.2024.101171

TY - JOUR

T1 - Cancer risks for other sites in addition to breast in CHEK2 c.1100delC families

AU - Schreurs, Maartje A.C.

AU - Schmidt, Marjanka K.

AU - The Hereditary Breast and Ovarian Cancer Research Group Netherlands

AU - Hollestelle, Antoinette

AU - Schaapveld, Michael

AU - van Asperen, Christi J.

AU - Ausems, M. G.E.M.

AU - van de Beek, Irma

AU - Broekema, Marjoleine F.

AU - Margriet Collée, J.

AU - van der Hout, Annemieke H.

AU - van Kaam, Kim J.A.F.

AU - Komdeur, Fenne L.

AU - Mensenkamp, A. R.

AU - Adank, Muriel A.

AU - Hooning, Maartje J.

AU - Hogervorst, F. B.L.

AU - van Leeuwen, F. E.

AU - Adank, M. A.

AU - Schmidt, M. K.

AU - Stommel-Jenner, D. J.

AU - de Groot, R.

AU - Vieveen, E.

AU - Collée, J. M.

AU - Geurts-Giele, W.

AU - Heemskerk-Gerritsen, B. A.M.

AU - Hooning, Maartje J.

AU - Boere, I. A.

AU - van Asperen, C. J.

AU - Devilee, P.

AU - van der Luijt, R. B.

AU - Wevers, M. R.

AU - Mensenkamp, A. R.

AU - de Hullu, J. A.

AU - Ausems, M. G.E.M.

AU - Koudijs, M. J.

AU - Koole, W.

AU - van Engelen, K.

AU - Gille, J. J.P.

AU - Gómez García, E. B.

AU - Blok, M. J.

AU - Berger, L. P.V.

AU - van der Hout, A. H.

AU - de Bock, G. H.

AU - Yigit, R.

AU - Siesling, S.

AU - Verloop, J.

AU - Voorham, Q. J.M.

PY - 2024/9

Y1 - 2024/9

N2 - Purpose: Female 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. Methods:Including 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. Results: We 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. Conclusion: A 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.

AB - Purpose: Female 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. Methods:Including 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. Results: We 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. Conclusion: A 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.

UR - https://www.scopus.com/pages/publications/85198912134

U2 - 10.1016/j.gim.2024.101171

DO - 10.1016/j.gim.2024.101171

M3 - Article

C2 - 38828701

AN - SCOPUS:85198912134

SN - 1098-3600

VL - 26

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 9

M1 - 101171

ER -

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

Abstract

Bibliographical note

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