Collaborator: University of Pittsburgh Medical Center (UPMC)

• Case Report: Biallelic BRCA1 pathogenic alterations in a Fanconi Anemia patient and clinical implications of variant location

• SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

• Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants

• Identification of BRCA1 biallelic pathogenic variants in a Fanconi Anemia patient and the clinical implications of variant location

  Fanconi anemia subtype S (FA-S) is an extremely rare, autosomal recessive disorder caused by biallelic pathogenic mutations in BRCA1 and is characterized by physical abnormalities, developmental delay, and increased chromosomal breakage. The rarity of FA-S is likely due to embryonic lethality and cases resulting in live birth may be the result of some level of…

  April 2, 2026

• Disparities in the uptake of cascade genetic testing among family members of mutation-positive Lynch and HBOC syndrome patients

  Cascade testing is underutilized particularly in non-white and young family members Ambry Authors: Carrie Horton, Cassidy Carraway, Jing Zhou, Whitley Hatton, Timothy Komala, Carrie Milliard, Tara Namey    

  April 2, 2026

• Utility of RNA testing in individuals at increased risk for hereditary or familial pancreatic cancer

  Abstract # tbd Ambry Authors: Carrie Milliard, Cassidy Carraway, Lily Hoang, Rachid Karam

  April 2, 2026

• Family communication and patient distress after germline genetic testing in individuals with pancreatic ductal adenocarcinoma

  Abstract Background Germline genetic testing currently is recommended for patients with pancreatic ductal adenocarcinoma (PDAC). In the current study, the authors assessed how often results are communicated to first‐degree relatives within 3 months and the emotional impact of testing on patients. Methods A total of 148 patients who were newly diagnosed with PDAC and who had…

• Prospective Study of Germline Genetic Testing in Incident Cases of Pancreatic Adenocarcinom

  Abstract Background The objective of this study was to investigate the prevalence of pathogenic germline variants (PGVs) in 32 cancer susceptibility genes in individuals with newly diagnosed pancreatic ductal adenocarcinoma (PDAC). A key secondary objective was to evaluate how often PGVs would have been undetected with existing genetic testing criteria. Methods From May 2016 through…