Universal Screening for Lynch Syndrome in Women With Endometrial and Non-Serous Ovarian Cancer

NCT02494791 | Unknown

• 1 other identifier: 14-8533CE
• Study Type: interventional
• Target: 886
• Locations: 1 country
• Sites: 1

Brief Summary

This study will maximize identification of women with Lynch Syndrome using an enhanced screening strategy to identify those at risk. These women will be referred to genetic counselling for testing and those found to have Lynch Syndrome will be asked to invite first degree relatives to participate and undergo genetic testing for Lynch Syndrome. Screening guidelines and risk reducing surgery options for participants found to have Lynch Syndrome will be reinforced by the study and adherence to these guidelines will be assessed annually for ten years following Lynch Syndrome diagnosis to assess the impact and cost-effectiveness of this enhanced screening approach.

Conditions

Lynch Syndrome; Endometrial Neoplasms; Ovarian Neoplasms; Colorectal Neoplasms

Outcome Measures

Primary Outcomes (2)

• Adherence to screening guidelines (colonoscopy and gynecologic risk-reducing surgery) in participants found to have Lynch Syndrome

  Participants found to have Lynch Syndrome will be followed after diagnosis and asked to update the study annually with information about any colorectal cancer screening (colonoscopy) and/or gynecologic risk-reducing surgery they've undergone. This information will be used to assess the success of the enhanced universal screening protocol in helping treat pre-cancerous lesions and therefore prevent a possible cancer as well as aid in detection of early malignancies that otherwise may have gone undetected.

  short-term assessment at 1 year after diagnosis, long-term assessment for up to 10 years after diagnosis

• Cost-effectiveness of universal enhanced screening strategy to identify women with Lynch Syndrome and their family members via cascade testing

  Data about adherence to screening guidelines and the outcome of screening procedures will be used to inform cost-effectiveness models assessing the feasibility of implementing this enhanced universal screening strategy for Lynch Syndrome in institutions across Canada.

  short-term assessment at 1 year after diagnosis, long-term assessment for up to 10 years after diagnosis

Secondary Outcomes (2)

• Incidence of Lynch Syndrome in an unselected group of women with endometrial and non-serous ovarian cancer

  3 years

• Discovery of novel genetic mutations and molecular events in unexplained MMR loss (Lynch-like Syndrome)

  3-5 years

Study Arms (1)

Endometrial and Ovarian Cancer Participants

OTHER

All study subjects will be offered the same options for screening and follow-up.

Behavioral: Questionnaire, Educational Material

Interventions

Questionnaire, Educational Material BEHAVIORAL

Participants in this study will be given educational material about Lynch Syndrome and genetic testing for this condition. They will be asked to complete questionnaires about their family cancer history, personal health history and attitudes toward genetic testing.

Endometrial and Ovarian Cancer Participants

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• years old
• endometrial cancer (all grades, stages and histologic subtypes except stromal sarcoma, carcinosarcoma)
• cancer diagnosed within 6 months of consent
• tumour tissue available for MMR IHC
• willing and able to give informed consent for participation in study

You may not qualify if:

• patients under 18 years old or over 70 years old
• patients with uterine adenosarcoma, leiomyosarcoma or endometrial stromal sarcoma
• patients with pure serous or pure mucinous ovarian carcinoma
• patients unwilling or unable to participate in the informed consent process
• minimum 18 years old
• reside in Canada
• willing and able to give informed consent for participation in study
• under 18 years old
• reside outside of Canada
• unwilling or unable to participate in the informed consent process

Sponsors & Collaborators

• University Health Network, Toronto: lead
• Mount Sinai Hospital, Canada: collaborator
• Sunnybrook Health Sciences Centre: collaborator
• Hamilton Health Sciences Corporation: collaborator
• Toronto Metropolitan University: collaborator
• University of Toronto: collaborator

Study Sites (1)

University Health Network - Princess Margaret Hospital

Toronto, Ontario, M5T 2M9, Canada

Location

MeSH Terms

Conditions

Colorectal Neoplasms, Hereditary Nonpolyposis; Endometrial Neoplasms; Ovarian Neoplasms; Colorectal Neoplasms

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Neoplasms by Site; Neoplasms; Neoplastic Syndromes, Hereditary; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; DNA Repair-Deficiency Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Uterine Neoplasms; Genital Neoplasms, Female; Urogenital Neoplasms; Uterine Diseases; Genital Diseases, Female; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Genital Diseases; Endocrine Gland Neoplasms; Ovarian Diseases; Adnexal Diseases; Endocrine System Diseases; Gonadal Disorders; Rectal Diseases

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Sarah Ferguson, MD

  Princess Margaret Cancer Centre

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: SCREENING
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 7, 2015
• First Posted: July 10, 2015
• Study Start: July 1, 2015
• Primary Completion: July 1, 2020
• Study Completion: July 1, 2025
• Last Updated: May 17, 2022

Record last verified: 2022-05

Locations

CA (1)