PALB2 NM_024675.3:c.3512del, Leu1171CysfsTer20

"This variant has been reported in ClinVar as Uncertain Significance by ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen expert panel."

Error in OpenAI Consolidation. OncoKB: PALB2L1171Cfs*20PALB2L1171Cfs*20SomaticNCBI Gene:79728|Show additional gene information Variant OverviewPALB2, a scaffolding protein involved in DNA repair, is altered in various cancers.The PALB2 L1171Cfs*20 is a truncating mutation in a tumor suppressor gene, and therefore is likely oncogenic.Hide mutation effect description The mutation effect description for truncating mutations in PALB2 is: PALB2 truncating mutations can form several forms of C-terminally truncated PALB2 protein and are found in breast cancers. As such, PALB2 is considered a rare breast cancer susceptibility gene. In patient studies, PALB2 truncation mutations were shown to significantly increase the risk of breast cancer, with similar risks for estrogen receptor-positive and -negative breast cancer. PALB2 truncation mutations have also been found in cases of hereditary male breast cancer (PMID: 28858227, 18053174, 25529982, 29484706, 28279176, 28779002). JAX-CKB: No results found