Cancer Genetics Hereditary Cancer Panel Testing

Plain-language summary

This study evaluated hereditary cancer panel testing in individuals at risk for hereditary cancer syndromes. Participants provided questionnaires and a blood sample; people with multiple cancers, an early cancer diagnosis, or a family history of cancer were included. It was a study with no assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Completed

Sponsor

University of Southern California

Intervention

Questionnaires, Blood Draw and Baseline Questionnaire

Start date

6/12/2014

Estimated completion

8/31/2020

Countries

United States

Related genes

Locations

• Los Angeles, United States
• Stanford, United States

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

Inclusion Criteria:Screening Criteria Patients meeting one of the following criteria will be eligible for screening the study.

* Any individual with multiple primary cancers
* Any individual diagnosed with cancer under age 50
* Individuals with two or more first or second-degree relatives with cancer.
* Individuals from families where at least one family member was diagnosed with cancer under age 50
* Individuals meeting a phenotypic diagnosis of specific hereditary cancer syndromes including, but not limited to:

  * Hereditary Breast and Ovarian Cancer
  * Lynch Syndrome
  * Familial or Attenuated Adenomatous Polyposis Syndrome
  * Hereditary Melanoma Syndrome
  * Hereditary Pancreatic Syndrome
  * Li Fraumeni Syndrome
  * Cowden Syndrome
  * Hereditary Diffuse Gastric Cancer
  * Peutz Jeghers Syndrome
  * Juvenile Polyposis Syndrome
  * Ataxia Telangiectasia (Louis-Bar syndrome)

Individuals with a pretest mutation probability of \> 2.5% based on validated published models 15

* Mismatch Repair (MMR)pro
* Prediction model for mutL homolog 1 (MLH1), muS homolg 2 (MSH2), and mutS homolog 6 (MSH6) gene mutations (Premm 1,2,6)
* Pancreas (Panc)Pro
* Melanoma (Mela)Pro
* Breast cancer (BRCA)Pro
* Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA)
* International Breast Cancer Intervention Study (IBIS) (Tyler-Cuzick)
* Myriad II
* Phosphatase and tensin homolog (PTEN) Cleveland Clinic Score
* Clinical probability of \> 2.5% where models are not available

Or one of the following:

Individuals with a phenotypic diagnosis of the following recognized cancer genetic syndromes which automatically confers a clinical chance of \> 2.5%:

* Hereditary Breast and Ovarian Cancer
* Lynch Syndrome
* Familial or Attenuated Adenomatous Polyposis Syndrome
* Hereditary Melanoma Syndrome
* Hereditary Pancreatic Syndrome
* Li Fraumeni Syndrome
* Cowden Syndrome
* Hereditary Diffuse Gastric Cancer
* Peutz Jeghers Syndrome
* Juvenile Polyposis Syndrome
* Ataxia Telangiectasia (Louis-Bar syndrome) Participation will be open to patients of both sexes, all races and ethnic backgrounds, and of all ages. Subjects will include healthy individuals, cancer survivors, and patients actively being treated for cancer. Individuals at-risk for a hereditary cancer syndrome under age 18 will eligible for HCP testing if they meet the eligibility criteria with written parental consent and child assent where appropriate. Cognitively impaired adult subjects will be invited to participate through the written, informed consent of a legal representative designated on the consent form.

Exclusion Criteria:

Patients meeting one of the following criteria will be excluded the study

* Individuals with a pretest mutation probability of \< 2.5% based on validated published models
* Prior genetic testing for germline cancer susceptibility
* Inability to provide written informed consent