Cargando…
Germline de novo mutations in families with Mendelian cancer syndromes caused by defects in DNA repair
DNA repair defects underlie many cancer syndromes. We tested whether de novo germline mutations (DNMs) are increased in families with germline defects in polymerase proofreading or base excision repair. A parent with a single germline POLE or POLD1 mutation, or biallelic MUTYH mutations, had 3-4 fol...
Autores principales: | , , , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10279637/ https://www.ncbi.nlm.nih.gov/pubmed/37336879 http://dx.doi.org/10.1038/s41467-023-39248-0 |