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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 toimittajatMøller, 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 sarjaHereditary Cancer in Clinical Practice

ISSN1731-2302

eISSN1897-4287

Julkaisuvuosi2023

Ilmestymispäivä11.10.2023

Volyymi21

Artikkelinumero19

KustantajaBiomed Central

JulkaisumaaBritannia

Julkaisun kielienglanti

DOIhttps://doi.org/10.1186/s13053-023-00263-3

Julkaisun avoin saatavuusAvoimesti saatavilla

Julkaisukanavan avoin saatavuusKokonaan avoin julkaisukanava

Julkaisu on rinnakkaistallennettu (JYX)https://jyx.jyu.fi/handle/123456789/90005

LisätietojaOn 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-asiasanatsyöpätauditsuolistosyövätperinnölliset tauditepidemiologiasyöpägeenithoitosuositukset


Liittyvät organisaatiot


OKM-raportointiKyllä

VIRTA-lähetysvuosi2023

JUFO-taso1


Viimeisin päivitys 2024-12-10 klo 18:15