Inherited cancers are caused by germline mutations increasing the
risk to develop malignancies such as Lynch syndrome, Hereditary
Breast and Ovarian Cancer (HBOC) and many others.
As about 5-10% of cancers are linked to an inherited pathogenic
variant, comprehensive genetic testing is important to implement
surveillance and risk-reduction strategies, detect cancer at an early,
more treatable stage and provide tailored treatment and therapies. Inherited cancer assays are developing rapidly, with some panels
screening for mutations in hundreds of genes. To perform validation
and assess assay performance, it is usually necessary to source
multiple samples with mutations in each gene which is difficult and
costly. Here we describe the development and evaluation of a
prototype biosynthetic reference material designed to address these
validation challenges for variants relevant in many inherited cancers.