Rare germline variants in PALB2 and BRCA2 in familial and sporadic chordoma
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DOI: 10.1002/humu.24427
Abstract: Chordoma is a rare bone tumor with genetic risk factors largely unknown. We conducted a whole‐exome sequencing (WES) analysis of germline DNA from 19 familial chordoma cases in five pedigrees and 137 sporadic chordoma patients… read more here.
Keywords: germline variants; palb2 brca2; germline; chordoma ... See more keywords
BRCA1-dependent and independent recruitment of PALB2-BRCA2-RAD51 in the DNA damage response and cancer.
Sign Up to like & getrecommendations! Published in 2022 at "Cancer research"
DOI: 10.1158/0008-5472.can-22-1535
Abstract: The BRCA1-PALB2-BRCA2 axis plays essential roles in the cellular response to DNA double strand breaks (DSB), maintenance of genome integrity, and suppression of cancer development. Upon DNA damage, BRCA1 is recruited to DSBs, where it… read more here.
Keywords: brca1; palb2 brca2; dna; response ... See more keywords