Editing AUA: Upper Tract Urothelial Carcinoma (2023) (section)

=== History and Physical exam ===

* <span style="color:#ff0000">'''History'''</span>
**<span style="color:#ff0000">'''Personal and family history to identify known hereditary risk factors for familial diseases associated with Lynch Syndrome'''</span>
*** '''If positive, referral for genetic counseling should be offered.'''
****Patients with Lynch Syndrome undergo routine screening due to increased life-long risk for developing associated malignancies, often occurring before 50 years of age
*** '''<span style="color:#ff0000">Lynch syndrome</span>'''
****Familial, autosomal-dominant multi-organ cancer syndrome
****'''Due to an inherited germline mutation in a group of DNA damage response genes responsible mismatch repair (MMR),''' specifically MLH1, MSH2, MSH6, PMS2, or EPCAM
*****Alterations affecting the normal function of these genes results in an accumulation of DNA errors and increases the potential for cancer development
**** '''Accounts ≈7-20% of UTUC cases in the U.S'''
*****Lynch syndrome may increase the possibility of contralateral upper tract involvement, which is an important potential clinical consideration when developing a treatment plan.
****'''<span style="color:#ff0000">Associated cancers (11):</span>'''
****#'''<span style="color:#ff0000">Colorectal (20-80%)</span>'''
****#'''<span style="color:#ff0000">Urothelial (1-18%)</span>'''
****#'''<span style="color:#ff0000">Gastric cancers (1-13%)</span>'''
****#'''<span style="color:#ff0000">Endometrial (15-60%) in females</span>'''
****#'''<span style="color:#ff0000">Ovarian cancer (1-38%) in females</span>'''
****#'''<span style="color:#ff0000">Biliary</span>'''
****#'''<span style="color:#ff0000">Small bowel</span>'''
****#'''<span style="color:#ff0000">Pancreatic</span>'''
****#'''<span style="color:#ff0000">Prostate</span>'''
****#'''<span style="color:#ff0000">Skin</span>'''
****#*Sebaceous adenoma, sebaceous epithelioma, sebaceous adenocarcinoma, keratoacanthoma, and squamous cell carcinoma[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3423888/]
****#'''<span style="color:#ff0000">Brain</span>'''