A2 Katsausartikkeli tieteellisessä aikausilehdessä
Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes : an EHTG, PLSD position statement (2023)
Møller, P., Seppälä, T. T., Ahadova, A., Crosbie, E. J., Holinski-Feder, E., Scott, R., Haupt, S., Möslein, G., Winship, I., Bajwa-ten Broeke, S. W., Kohut, K. E., Ryan, N., Bauerfeind, P., Thomas, L. E., Evans, D. G., Aretz, S., Sijmons, R. H., Half, E., Heinimann, K., . . . Dominguez-Valentin, M. (2023). Dominantly inherited micro-satellite instable cancer – the four Lynch syndromes : an EHTG, PLSD position statement. Hereditary Cancer in Clinical Practice, 21, Article 19. https://doi.org/10.1186/s13053-023-00263-3
JYU-tekijät tai -toimittajat
Julkaisun tiedot
Julkaisun kaikki tekijät tai toimittajat: Møller, Pal; Seppälä, Toni T.; Ahadova, Aysel; Crosbie, Emma J.; Holinski-Feder, Elke; Scott, Rodney; Haupt, Saskia; Möslein, Gabriela; Winship, Ingrid; Bajwa-ten Broeke, Sanne W.; et al.
Lehti tai sarja: Hereditary Cancer in Clinical Practice
ISSN: 1731-2302
eISSN: 1897-4287
Julkaisuvuosi: 2023
Ilmestymispäivä: 11.10.2023
Volyymi: 21
Artikkelinumero: 19
Kustantaja: Biomed Central
Julkaisumaa: Britannia
Julkaisun kieli: englanti
DOI: https://doi.org/10.1186/s13053-023-00263-3
Julkaisun avoin saatavuus: Avoimesti saatavilla
Julkaisukanavan avoin saatavuus: Kokonaan avoin julkaisukanava
Julkaisu on rinnakkaistallennettu (JYX): https://jyx.jyu.fi/handle/123456789/90005
Lisätietoja: On behalf of the Prospective Lynch Syndrome Database (www.plsd.eu) and The European Hereditary Tumour Group (www.ehtg.org)
Tiivistelmä
The recognition of dominantly inherited micro-satellite instable (MSI) cancers caused by pathogenic variants in one of the four mismatch repair (MMR) genes MSH2, MLH1, MSH6 and PMS2 has modified our understanding of carcinogenesis. Inherited loss of function variants in each of these MMR genes cause four dominantly inherited cancer syndromes with different penetrance and expressivities: the four Lynch syndromes. No person has an “average sex “or a pathogenic variant in an “average Lynch syndrome gene” and results that are not stratified by gene and sex will be valid for no one. Carcinogenesis may be a linear process from increased cellular division to localized cancer to metastasis. In addition, in the Lynch syndromes (LS) we now recognize a dynamic balance between two stochastic processes: MSI producing abnormal cells, and the host’s adaptive immune system’s ability to remove them. The latter may explain why colonoscopy surveillance does not reduce the incidence of colorectal cancer in LS, while it may improve the prognosis. Most early onset colon, endometrial and ovarian cancers in LS are now cured and most cancer related deaths are after subsequent cancers in other organs. Aspirin reduces the incidence of colorectal and other cancers in LS. Immunotherapy increases the host immune system’s capability to destroy MSI cancers. Colonoscopy surveillance, aspirin prevention and immunotherapy represent major steps forward in personalized precision medicine to prevent and cure inherited MSI cancer.
YSO-asiasanat: syöpätaudit; suolistosyövät; perinnölliset taudit; epidemiologia; syöpägeenit; hoitosuositukset
Liittyvät organisaatiot
OKM-raportointi: Kyllä
VIRTA-lähetysvuosi: 2023
JUFO-taso: 1