Familial cancer — Endo Lab

2015

The importance of proper bioinformatics analysis and clinical interpretation of tumor genomic profiling: a case study of undifferentiated sarcoma and a constitutional pathogenic BRCA2 mutation and an MLH1 variant of uncertain significance.

doi:10.1007/s10689-015-9790-3 ·PMID:25712765

Next-generation sequencing (NGS) technology is increasingly utilized to identify therapeutic targets for patients with malignancy. This technology also has the capability to reveal the presence of constitutional genetic alterations, which m…

2014

Distinct gene expression profiles in ovarian cancer linked to Lynch syndrome.

doi:10.1007/s10689-014-9728-1 ·PMID:24848881

Ovarian cancer linked to Lynch syndrome represents a rare subset that typically presents at young age as early-stage tumors with an overrepresentation of endometrioid and clear cell histologies. We investigated the molecular profiles of Lyn…

other 2013

Phenotypic heterogeneity of hereditary gynecologic cancers: a report from the Creighton hereditary cancer registry

doi:10.1007/s10689-013-9651-x ·PMID:23666231

To determine the validity of observations suggesting a significant dichotomy of gynecologic cancers determined by linkage to specific genetic defects associated with two major autosomal dominant hereditary cancer syndromes; the Creighton Un…

case-report 2010

High risk for neoplastic transformation of endometriosis in a carrier of Lynch syndrome

doi:10.1007/s10689-010-9321-1 ·PMID:20087665

Lynch syndrome is an autosomal dominant cancer-susceptibility disorder caused by mutations in DNA mismatch repair genes. Women with Lynch syndrome have an increased lifetime risk for endometrial and ovarian cancers. While there is evidence …