Clinical trial NCT04620278: Genetic Investigation of Cancer Predisposition
Official title: Genetic Investigation of Cancer Predisposition
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Genetic Predisposition
Cancer
Keywords: Genetic analysis
Early diagnosis
Lead sponsor: The University of Texas Health Science Center at San Antonio
Sponsor class: OTHER
First posted: 2020-11-06
Enrollment: 100
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Individuals with a family history of cancer or with a personal history of multiple cancers that might suggest increased genetic predisposition, but for which an identifiable susceptibility mutation has not been detected.

Brief summary: Clinical information and samples (blood, saliva, and tumor) will be collected from patients with multiple cancers and/or a family history of cancer as well as from affected and unaffected relatives; samples will be systematically sequenced and evaluated for candidate driver mutations.

Detailed description: Genetic screening will be performed on DNA (and/or RNA) isolated from collected samples from affected individuals by whole exome sequencing or RNA sequencing using in-house pipeline to identify candidate sequence variants. These variants will be tested for segregation with the phenotype in other relatives (affected/unaffected). Candidate variants will be subjected to additional downstream analysis, to be guided by the actual type of gene/variant.

Eligibility criteria: Inclusion Criteria:

1. Any age
2. Meets at least ONE of the following:

   1. Personal history (with documented diagnosis) of cancer before the age of 50
   2. Personal history of more than one primary cancer
   3. Documented diagnosis of cancer AND family history of that same cancer type or multiple other cancers that do not fit classical criteria of hereditary cancer syndromes
   4. Documented diagnosis of a rare cancer AND family history of rare cancers that do not fit classical criteria of hereditary cancer syndromes
   5. There is the same type of cancer in several generations of a family
   6. Documented diagnosis of multicentric cancers (e.g bilateral cancers in paired organs, or multifocal cancers in single organs) that usually occur as single lesions when presented sporadically
   7. Early onset cancer (before the age of 50, or breast cancer before age 45) AND family history of early onset cancer Capable of providing access to detailed medical records and family history of cancer

Exclusion Criteria:

1. Established genetic diagnosis of a known hereditary cancer syndrome that is compatible with the clinical presentation
2. Incarcerated

Primary outcomes:
measure: Identification of Rare Genetic Variant
timeFrame: through study completion- approximately 6-12 months
measure: Identification of somatic (tumor only) mutation
timeFrame: through study completion- approximately 6-12 months
measure: Identification of Rare Genetic Variant in family members
timeFrame: through study completion- approximately 6-12 months
Secondary outcomes:
measure: Identification of clinical spectrum of the disease in families
timeFrame: through study completion- approximately 6-12 months
Other outcomes:
Locations:
city: San Antonio
country: United States
facility: University of Texas Health Science Center
state: Texas
Study officials:
affiliation: University of Texas Health at San Antonio
name: Patricia L Dahia, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: