Ignite Creation Date:
2024-07-17 @ 11:13 AM
Last Modification Date:
2024-10-26 @ 3:34 PM
Study NCT ID:
NCT06501417
Status:
NOT_YET_RECRUITING
Last Update Posted:
2024-07-15
First Post:
2024-07-09
Brief Title:
EC_ItaLynch Mainstreaming the Diagnosis of Lynch Syndrome
Sponsor:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Organization:
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study Overview
Official Title:
EC_ItaLynch Incorporating Lynch Syndrome Genetic Testing in Standard Medical Care of Patients With Endometrial Cancer Mainstreaming
Status:
NOT_YET_RECRUITING
Status Verified Date:
2024-04
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
EC_ItaLynch
Brief Summary:
Lynch syndrome LS is the most common cause of hereditary endometrial cancer EC and is associated with an increased risk of colorectal CRC ovarian gastric small bowel and urinary tract cancer LS is determined by germline pathogenic variants in the DNA mismatch repair MMR genes MLH1 MSH2 MSH6 PMS2 or in EPCAM
Approximately 20-30 of ECs exhibit somatic MMR deficiency dMMR and among these patients approximately 10-30 are affected by LS This estimate suggests that the prevalence of LS among all EC patients is roughly 3-5 Prior to the introduction of Universal Screening the diagnostic management of LS was mainly based on Selective Screening which included clinical criteria based on the evaluation of family and personal history and the clinicopathological features of the tumor Amsterdam criteria 1990 Bethesda criteria 1997 However these have been limited in their application to clinical practice due to their complexity and the frequent lack of complete family history data Therefore Universal Screening for LS diagnosis by the identification of dMMR in the tumor tissue of all newly diagnosed CRC and EC cases has recently been proposed
Universal Screening for LS in tumor tissue includes an immunohistochemistry based IHC test to assess loss of MMR protein expression or a polymerase chain reaction PCR test for microsatellite instability
In the traditional diagnostic pathway for LS genetic counseling and testing are always recommended for EC patients who are found to have loss of expression of any of the proteins encoded by the MSH2 MSH6 or PMS2 In case of MLH1 loss genetic counseling and genetic testing are recommended for patients without hypermethylation of the MLH1 promoter
Recent findings suggest that incorporating genetic testing in an oncologist-driven diagnostic algorithm mainstreaming of genetic testing could enable increased diagnostic rates offering the benefits of precision medicine and a streamlined pathway of care to patients and their families
The study consists of two parts
1 In the first part the aim of the current study is to compare the knowledge experience and understanding of genetic testing among patients pursuing genetic testing using mainstreaming or standard genetic counseling through modified Modified Royal Marsden Patient Satisfaction Questionnaire
2 If the first aim will be achieved a second part will be conducted to evaluate the feasibility of the mainstreaming diagnostic pathway for LS
Approximately 20-30 of ECs exhibit somatic MMR deficiency dMMR and among these patients approximately 10-30 are affected by LS This estimate suggests that the prevalence of LS among all EC patients is roughly 3-5 Prior to the introduction of Universal Screening the diagnostic management of LS was mainly based on Selective Screening which included clinical criteria based on the evaluation of family and personal history and the clinicopathological features of the tumor Amsterdam criteria 1990 Bethesda criteria 1997 However these have been limited in their application to clinical practice due to their complexity and the frequent lack of complete family history data Therefore Universal Screening for LS diagnosis by the identification of dMMR in the tumor tissue of all newly diagnosed CRC and EC cases has recently been proposed
Universal Screening for LS in tumor tissue includes an immunohistochemistry based IHC test to assess loss of MMR protein expression or a polymerase chain reaction PCR test for microsatellite instability
In the traditional diagnostic pathway for LS genetic counseling and testing are always recommended for EC patients who are found to have loss of expression of any of the proteins encoded by the MSH2 MSH6 or PMS2 In case of MLH1 loss genetic counseling and genetic testing are recommended for patients without hypermethylation of the MLH1 promoter
Recent findings suggest that incorporating genetic testing in an oncologist-driven diagnostic algorithm mainstreaming of genetic testing could enable increased diagnostic rates offering the benefits of precision medicine and a streamlined pathway of care to patients and their families
The study consists of two parts
1 In the first part the aim of the current study is to compare the knowledge experience and understanding of genetic testing among patients pursuing genetic testing using mainstreaming or standard genetic counseling through modified Modified Royal Marsden Patient Satisfaction Questionnaire
2 If the first aim will be achieved a second part will be conducted to evaluate the feasibility of the mainstreaming diagnostic pathway for LS
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None