The benefit of adding polygenic risk scores, lifestyle factors, and breast density to family history and genetic status for breast cancer risk and surveillance classification of unaffected women from germline CHEK2 c.1100delC families
Schreurs, Maartje A.C. (Erasmus MC Cancer Institute)
Ramon y Cajal, Teresa (Institut de Recerca Sant Pau)
Adank, Muriel A. (Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital)
Collée, J.Margriet (Erasmus MC Cancer Institute)
Hollestelle, Antoinette (Erasmus MC Cancer Institute)
van Rooij, Jeroen (Erasmus MC Cancer Institute)
Schmidt, Marjanka K. (Netherlands Cancer Institute - Antoni van Leeuwenhoek Hospital)
Hooning, Maartje J. (Erasmus MC Cancer Institute)

Fecha:	2024
Resumen:	To determine the changes in surveillance category by adding a polygenic risk score based on 311 breast cancer (BC)-associated variants (PRS), questionnaire-based risk factors and breast density on personalized BC risk in unaffected women from Dutch CHEK2 c. 1100delC families. In total, 117 unaffected women (58 heterozygotes and 59 non-carriers) from CHEK2 families were included. Blood-derived DNA samples were genotyped with the GSAMDv3-array to determine PRS. Lifetime BC risk was calculated in CanRisk, which uses data from the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA). Women, were categorized into three surveillance groups. The surveillance advice was reclassified in 37. 9 % of heterozygotes and 32. 2 % of non-carriers after adding PRS. Including questionnaire-based risk factors resulted in an additional change in 20. 0 % of heterozygotes and 13. 2 % of non-carriers; and a subanalysis showed that adding breast density on top shifted another 17. 9 % of heterozygotes and 33. 3 % of non-carriers. Overall, the majority of heterozygotes were reclassified to a less intensive surveillance, while non-carriers would require intensified surveillance. The addition of PRS, questionnaire-based risk factors and breast density to family history resulted in a more personalized BC surveillance advice in CHEK2-families, which may lead to more efficient use of surveillance.
Nota:	Altres ajuts: This research was supported by KWF Kankerbestrijding (project 10758).
Derechos:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Lengua:	Anglès
Documento:	Article ; recerca ; Versió publicada
Materia:	Breast cancer ; CHEK2 c.1100delC ; Risk prediction
Publicado en:	Breast, Vol. 73 (february 2024) , p. 103611, ISSN 1532-3080

DOI: 10.1016/j.breast.2023.103611
PMID: 38039887

7 p, 1.3 MB

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