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...

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Detaylı Bibliyografya
Asıl Yazarlar: Speight, B., Colvin, E., Epurescu, E. D., Drummond, J., Verhoef, S., Pereira, M., Evans, D. G., Tischkowitz, M.
Materyal Türü: Online Makale Metin
Dil:English
Baskı/Yayın Bilgisi: BioMed Central 2022
Konular:
Case Report
Online Erişim: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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