Collaborator: Dana Farber Cancer Institute
-
Concurrent DNA and RNA genetic testing identifies more patients with Lynch Syndrome than DNA testing alone
* Concurrent RNA and DNA genetic testing increases the clinical impact of Lynch syndrome testing. * In this pilot study, RNA sequencing contributed to a 14% relative increase in diagnostic yield for Lynch syndrome overall; this increase was even higher among families with 3 or more individuals with Lynch spectrum cancers. * RNA sequencing also…
-
Genotype-Phenotype Associations Among Panel-based TP53+ Subjects
Abstract Purpose Panel testing has led to the identification of TP53 pathogenic/likely pathogenic (P/LP) variant carriers (TP53+) who exhibit a broad range of phenotypes. We sought to evaluate and compare genotype-phenotype associations among TP53+ panel-ascertained subjects. Methods Between 2012 and 2017, 317 TP53+ subjects (279 females and 38 males) identified through panel testing at one…
-
Prevalence of germline variants in inflammatory breast cancer
Abstract Background Inflammatory breast cancer (IBC) is an uncommon and aggressive subtype of breast cancer associated with early disease recurrence and short survival. The prevalence of germline variants in cancer predisposition genes has not been systematically evaluated in women with IBC. Methods Among 301 women enrolled in the clinical IBC registry at a single institution…
-
RNA genetic testing in hereditary cancer improves variant classification and patient management
Top Rated Poster RNA genetic testing (RGT) as a supplement to DNA genetic testing (DGT) improves variant classification in hereditary cancer predisposition testing. RGT is expected to affect medical management in at least 1 in 50 patients who undergo DGT. Specifically, in the case of splicing variants identified in clinically actionable genes, the reclassification of…
-
Join the paraGANGlioma – More support for FH in hereditary PGL-PCC
Our results support a rare subtype of HLRCC in which PCC is the predominant finding. Interlaboratory collaboration aids in accurate variant classification. A better understanding of the prevalence of this disease subtype and penetrance of PCC in affected families is needed in order to identify other at risk individuals and guide management.
-
Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.
Abstract Background Li-Fraumeni syndrome (LFS) has traditionally been identified by single-gene testing (SGT) of TP53 triggered by clinical criteria, but the widespread use of multigene panel tests (MGPTs) has upended this paradigm. We sought to compare the personal and family cancer histories of TP53-positive result (TP53+) carriers who were identified by either MGPT or SGT. Methods Of 44 310…
-
Germline mutations in cancer predisposition genes among patients with thyroid cancer
We observed a high rate of germline mutations among individuals with thyroid cancer presenting for clinical genetic testing (n=2,678; 11.1% positive overall), even in the absence of other primary cancer diagnoses (9.7% positive among patients with thyroid cancer alone). For those with thyroid cancer alone, CHEK2 was most frequently mutated (3.1%), followed by APC (2.0%),…