MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence

Abstract Mutated MCM9 has been associated with primary ovarian insufficiency. Although MCM9 plays a role in genome maintenance and has been reported as a candidate gene in a few patients with inherited colorectal cancer (CRC), it has not been clearly established as a cancer predisposition gene. We r...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Yael Goldberg, Ola Aleme, Lilach Peled-Perets, Sergi Castellvi-Bel, Maartje Nielsen, Stavit A. Shalev
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/20dd90e74bc94b20a91452bf25ae9483
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:20dd90e74bc94b20a91452bf25ae9483
record_format	dspace
spelling	oai:doaj.org-article:20dd90e74bc94b20a91452bf25ae94832021-12-02T18:14:01ZMCM9 is associated with germline predisposition to early-onset cancer—clinical evidence10.1038/s41525-021-00242-42056-7944https://doaj.org/article/20dd90e74bc94b20a91452bf25ae94832021-09-01T00:00:00Zhttps://doi.org/10.1038/s41525-021-00242-4https://doaj.org/toc/2056-7944Abstract Mutated MCM9 has been associated with primary ovarian insufficiency. Although MCM9 plays a role in genome maintenance and has been reported as a candidate gene in a few patients with inherited colorectal cancer (CRC), it has not been clearly established as a cancer predisposition gene. We re-evaluated family members with MCM9-associated fertility problems. The heterozygote parents had a few colonic polys. Three siblings had early-onset cancer: one had metastatic cervical cancer and two had early-onset CRC. Moreover, a review of the literature on MCM9 carriers revealed that of nine bi-allelic carriers reported, eight had early-onset cancer. We provide clinical evidence for MCM9 as a cancer germline predisposition gene associated with early-onset cancer and polyposis, mainly in a recessive inheritance pattern. These observations, coupled with the phenotype in knockout mice, suggest that diagnostic testing for polyposis, CRC, and infertility should include MCM9 analysis. Early screening protocols may be beneficial for carriers.Yael GoldbergOla AlemeLilach Peled-PeretsSergi Castellvi-BelMaartje NielsenStavit A. ShalevNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 6, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Yael Goldberg Ola Aleme Lilach Peled-Perets Sergi Castellvi-Bel Maartje Nielsen Stavit A. Shalev MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence
description	Abstract Mutated MCM9 has been associated with primary ovarian insufficiency. Although MCM9 plays a role in genome maintenance and has been reported as a candidate gene in a few patients with inherited colorectal cancer (CRC), it has not been clearly established as a cancer predisposition gene. We re-evaluated family members with MCM9-associated fertility problems. The heterozygote parents had a few colonic polys. Three siblings had early-onset cancer: one had metastatic cervical cancer and two had early-onset CRC. Moreover, a review of the literature on MCM9 carriers revealed that of nine bi-allelic carriers reported, eight had early-onset cancer. We provide clinical evidence for MCM9 as a cancer germline predisposition gene associated with early-onset cancer and polyposis, mainly in a recessive inheritance pattern. These observations, coupled with the phenotype in knockout mice, suggest that diagnostic testing for polyposis, CRC, and infertility should include MCM9 analysis. Early screening protocols may be beneficial for carriers.
format	article
author	Yael Goldberg Ola Aleme Lilach Peled-Perets Sergi Castellvi-Bel Maartje Nielsen Stavit A. Shalev
author_facet	Yael Goldberg Ola Aleme Lilach Peled-Perets Sergi Castellvi-Bel Maartje Nielsen Stavit A. Shalev
author_sort	Yael Goldberg
title	MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence
title_short	MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence
title_full	MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence
title_fullStr	MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence
title_full_unstemmed	MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence
title_sort	mcm9 is associated with germline predisposition to early-onset cancer—clinical evidence
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/20dd90e74bc94b20a91452bf25ae9483
work_keys_str_mv	AT yaelgoldberg mcm9isassociatedwithgermlinepredispositiontoearlyonsetcancerclinicalevidence AT olaaleme mcm9isassociatedwithgermlinepredispositiontoearlyonsetcancerclinicalevidence AT lilachpeledperets mcm9isassociatedwithgermlinepredispositiontoearlyonsetcancerclinicalevidence AT sergicastellvibel mcm9isassociatedwithgermlinepredispositiontoearlyonsetcancerclinicalevidence AT maartjenielsen mcm9isassociatedwithgermlinepredispositiontoearlyonsetcancerclinicalevidence AT stavitashalev mcm9isassociatedwithgermlinepredispositiontoearlyonsetcancerclinicalevidence
_version_	1718378438777110528

MCM9 is associated with germline predisposition to early-onset cancer—clinical evidence

Ejemplares similares