Relevance, Pathogenesis, and Testing Algorithm for Mismatch Repair–Defective Colorectal Carcinomas: A Report of the Association for Molecular Pathology (Lynch Syndrome mutations

Blogger's Note: worth reading; discusses the failure rates in genetic testing procedures according to differing criteria (eg. Bethesda/pathology...); the main focus is colorectal cancer, however, it is noted the disparities in female Lynch Syndrome patients (eg. colorectal cancer risk vs endometrial cancer; extensive subject matter relates to specific mutations but a search of the full text found 0 results for 'ovarian' and/or 'ovary'

open access (2012)

"....Estimates and confidence intervals of the proportions
of Lynch CRC cases due to germline mutation of each of
these four MMR genes (weighted proportions: MLH1,
32%; MSH2, 39%; MSH6, 10% to 14%; PMS2, 15%85) are
confounded by incomplete testing of all four MMR genes
in most studies and by skewing in some ethnic groups
with high-frequency founder mutations.93....