CMMRD caused by PMS1 mutation in a sudanese consanguineous family

A consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported in association to a CMMRD phenotype.

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Bibliographische Detailangaben
Veröffentlicht in:	Hereditary cancer in clinical practice 2022-04, Vol.20 (1), p.16-16, Article 16
Hauptverfasser:	Hamad, Reem S, Ibrahim, Muntaser E
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Brain tumors Cancer CMMRD Colorectal cancer Consanguinity DNA sequencing Frameshift mutation Gene mutations Genes Genetic aspects Genetic disorders Genomics Health aspects Letter to the Editor Mutation Pediatrics Phenotypes PMS1 Segregation Tumors Yeast
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Beschreibung
Zusammenfassung:	A consanguineous family of three siblings presented with different early onset pediatric cancers. Whole-exome sequencing of parents DNA revealed a deleterious frameshift mutation in hPMS1 the first to be reported in association to a CMMRD phenotype.
ISSN:	1731-2302 1897-4287 1897-4287
DOI:	10.1186/s13053-022-00222-4