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...

Cur síos iomlán

Sonraí bibleagrafaíochta
Príomhchruthaitheoirí: Speight, B., Colvin, E., Epurescu, E. D., Drummond, J., Verhoef, S., Pereira, M., Evans, D. G., Tischkowitz, M.
Formáid: Online Alt Téacs
Teanga:English
Foilsithe / Cruthaithe: BioMed Central 2022
Ábhair:
Case Report
Rochtain ar líne: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

Ar líne

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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