The “Studded” Rectum: Phenotypic Evidence of MYH-Associated Polyposis

Church, James M.; Kravochuck, Sara E.

doi:10.1097/dcr.0000000000000575

Cited by 5 publications

(1 citation statement)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…It took some years for genomic knowledge and technology to catch up with clinical observations, with discovery of the underlying genes beginning in 1991 with APC. 27 Other genes followed: Lynch syndrome in 1993, 1994, and 1997, [34][35][36][37] Peutz-Jeghers polyposis in 1998, 38 juvenile polyposis in 1998 and 2001, 39,40 and Cowden's syndrome in 1998. 41 In the 21st century, the pattern of syndrome discovery has changed from phenotype leading genotype by a considerable time to genotype informing phenotype.…”

Section: Finding Syndromes: Phenotypes and Genotypesmentioning

confidence: 99%

The Natural History of Hereditary Colorectal Cancer Syndromes: From Phenotype to Genotype? Where Do We Stand and What Does the Future Hold?

Church

2023

Clin Colon Rectal Surg

Self Cite

View full text Add to dashboard Cite

Applying the concept of a “natural history” to hereditary colorectal cancer is an interesting exercise because the way the syndromes are approached has changed so drastically. However, the exercise is instructive as it forces us to think in depth about where we are, where we have been, and, most helpfully, about where we may be going. In this article the diagnosis, along with endoscopic and surgical management of hereditary colorectal cancer are discussed in the context of their history and the changes in genomics and technology that have occurred over the last one hundred years.

show abstract