Session # P-01

Truncating variants in 5’ exons of APC are associated with highly attenuated phenotypes and emphasize the need for genotype-phenotype correlation

1. Truncating variants in CDS1 and CDS2 in APC have been detected in patients with an unusually attenuated AFAP phenotype (0-10 reported polyps, in some cases without family history of polyps or CRC).
2. The mechanism for the less severe phenotypic features observed in these patients is not clear, however this region encodes the oligomerization domain, which is involved in homodimerization, and retention of this domain may be a requirement for pathogenicity.
3. A robust understanding of variant impact and genotype-phenotype correlation is critical for providing accurate variant classifications and interpretive information to patient care providers.

 

Ambry Authors: Jamie D. Weyandt, PhD; Colin C. Young, PhD; June Mikkelson, MS, CGC; Marcy E. Richardson, PhD 

• Authors: Jamie Weyandt, PhD
• Conference: CGA-IGC 2022
• Date: Friday, Nov 11, 2022 8:00am - 4:30pm