Whole exome sequencing of a novel homozygous missense variant in PALB2 gene leading to Fanconi anaemia complementation group
Angham Abdulrhman Abdulkareem,
Bader Shirah,
Hala Bagabir
et al.
Abstract:Partner and localiser of BRCA2 (
PALB2
), also known as
FANCN
, is a key tumour suppressor gene in maintaining genome integrity. Monoallelic mutations of
PALB2
are associated with breast and overian cancers, while bi-allelic mutations cause Fanconi anaemia (FA). In the present study, whole exome sequencing (WES) identified a novel homozygous missense variant, NM_024675.3: c.3296C>G (p.Thr1099Arg) in
PALB
2 gene (OMIM: 6… Show more
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