A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers

Ciyu Yang,Ozge Ceyhan-Birsoy,Diana Mandelker,Sowmya Jairam,Amanda Catchings,Eileen M. O’Reilly,Michael F. Walsh,Liying Zhang

A synonymous germline variant PALB2 c.18G>T (p.Gly6=) disrupts normal splicing in a family with pancreatic and breast cancers

2019

Ciyu Yang
Ozge Ceyhan-Birsoy
Diana Mandelker
Sowmya Jairam
Amanda Catchings
Eileen M. O’Reilly
Michael F. Walsh
Liying Zhang

Purpose Mutations in PALB2 have been associated with a predisposition to breast and pancreatic cancers. This study aims to characterize a novel PALB2 synonymous variant c.18G>T (p.Gly6=) identified in a family with pancreatic and breast cancers.

Keywords:

Cancer research
Germline
PALB2
RNA splicing
Medicine
Cancer
Exon
Cloning
Base pair
Frameshift mutation

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