https://www.aging-us.com/article/102783/
Aging | doi:10.18632/aging.102783. Bo Chen, Guochun Zhang, Xuerui Li, Chongyang Ren, Yulei Wang, Kai Li, Hsiaopei Mok, Li Cao, Lingzhu Wen, Minghan Jia,...
germline mutationscomparisonbrcaversusnon
https://pubmed.ncbi.nlm.nih.gov/12644538/
Mutations in genes other than BRCA1 and BRCA2 may be associated with a high risk of breast cancer, especially in young women.
breast cancerfamilialrisksearlyonset
https://curie.fr/publications/germline-mbd4-mutations-and-predisposition-uveal-melanoma
Abstract Background Uveal melanoma (UM) arises from malignant transformation of melanocytes in the uveal tract of the eye. This rare tumor has a poor outcome...
uveal melanomainstitut curiegermlinemutationspredisposition
https://curie.fr/publications/outlier-response-anti-pd1-uveal-melanoma-reveals-germline-mbd4-mutations-hypermutated-tumors
AbstractMetastatic uveal melanoma is a deadly disease with no proven standard of care. Here we present a metastatic uveal melanoma patient with an exceptional...
uveal melanomaoutlierresponseantireveals
https://pubmed.ncbi.nlm.nih.gov/10424811/
Beckwith-Wiedemann syndrome (BWS) is a human imprinting disorder with a variable phenotype. The major features are anterior abdominal wall defects including...
analysisgermlinemutationsfamilialsporadic
https://www.frontiersin.org/research-topics/68539/unraveling-germline-mutations-advances-in-genetic-profiling-for-cancer-risk/authors
In the realm of oncology, genetic mutations are well-established as pivotal factors predisposing individuals to various cancers. Particularly, germline mutat...
germline mutationsgenetic profilingfrontiersunravelingadvances