Набор скоро начнётся NCT04620278

Genetic Investigation of Cancer Predisposition

— Наблюдательное Genetic Predisposition Cancer

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают: В протоколе указаны: DNA or RNA Sequencing.
Кому может быть актуально: Состояния в реестре: Genetic Predisposition, Cancer. Базовые параметры: Без ограничений · Все.
Что важно проверить: Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится: США
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Обзор

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.

Подробное описание

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.

Вмешательства

Генная терапия DNA or RNA Sequencing
Samples will be used for whole exome (DNA) or RNA sequencing

Первичные конечные точки

Identification of Rare Genetic Variant [Срок оценки: through study completion- approximately 6-12 months]
Identification of somatic (tumor only) mutation [Срок оценки: through study completion- approximately 6-12 months]
Identification of Rare Genetic Variant in family members [Срок оценки: through study completion- approximately 6-12 months]

Вторичные конечные точки (1)

Identification of clinical spectrum of the disease in families [Срок оценки: through study completion- approximately 6-12 months]

Критерии участия

Критерии включения

Any age
Meets at least ONE of the following:

Personal history (with documented diagnosis) of cancer before the age of 50
Personal history of more than one primary cancer
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
Documented diagnosis of a rare cancer AND family history of rare cancers that do not fit classical criteria of hereditary cancer syndromes
There is the same type of cancer in several generations of a family
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
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