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Article

Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.

Journal of medical genetics - 1 Feb 2023

Li Na, Zethoven Magnus, McInerny Simone, Healey Eliza, DeSilva Dilanka, Devereux Lisa, Scott Rodney J, James Paul A, Campbell Ian G

Abstract excerpt

BACKGROUND: PALB2 is the most important contributor to familial breast cancer after BRCA1 and BRCA2. Large genomic rearrangements (LGRs) in BRCA1 and BRCA2 are routinely assessed in clinical testing and are a significant contributor to the yield of actionable findings. In contrast, the contribution of LGRs in PALB2 has not been systematically studied. METHODS: We performed targeted sequencing and real-time qPCR...

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PMID: 35396271
DOI: 10.1136/jmedgenet-2021-108399

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Contribution of large genomic rearrangements in PALB2 to familial breast cancer: implications for genetic testing.PMID 35396271Read ↗

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