Low-level constitutional mosaicism of BRCA1 in two women with young onset ovarian cancer

Germline pathogenic variants in BRCA1 and BRCA2 cause hereditary breast and ovarian cancer. The vast majority of these variants are inherited from a parent. De novo constitutional pathogenic variants are rare. Even fewer cases of constitutional mosaicism have been reported and these have mostly been...

Fuld beskrivelse

Bibliografiske detaljer
Autores principales: Speight, B., Colvin, E., Epurescu, E. D., Drummond, J., Verhoef, S., Pereira, M., Evans, D. G., Tischkowitz, M.
Format: Online Artículo Texto
Sprog:English
Udgivet: BioMed Central 2022
Fag:
Case Report
Online adgang:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446595/
https://www.ncbi.nlm.nih.gov/pubmed/36068545
http://dx.doi.org/10.1186/s13053-022-00237-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9446595/
https://www.ncbi.nlm.nih.gov/pubmed/36068545
http://dx.doi.org/10.1186/s13053-022-00237-x

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