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Идёт набор NCT03396341

Responses to Genetic Risk Modifier Testing Among Women With Pathogenic Variants in Breast Cancer Predisposition Genes

— Наблюдательное Genetic Testing BRCA1/2

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: Salvia sample, Questionnaires, Buccal swab sample.
Кому может быть актуально
Состояния в реестре: Genetic Testing, BRCA1/2. Базовые параметры: от 25 лет · Женщины.
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

The purpose of this study is to describe how women with BRCA1/2 mutations react to genetic risk modifier testing, and to examine how they make decisions about their healthcare.

Вмешательства

  • Другое Salvia sample
    salvia sample
  • Поведенческое Questionnaires
    Participants will complete Assessment #1 questionnaires. Participants will be contacted 1 week later (+/- 1 week) to complete Assessment #2 questionnaires. Participants will be contacted 6 months (+/- 3 weeks) following the receipt of their genetic risk modifier results to complete Assessment #3 questionnaires. Participants will be encouraged to complete Assessments #2 and #3 via email using the secure, approved REDCap system
  • Другое Buccal swab sample
    Buccal swab sample

Первичные конечные точки

  • Number of participants that opt for preventive mastectomy or to pursue surveillance [Срок оценки: 3 years]

Критерии участия

Критерии включения

Phase I:

  • Female patient, age 25 years or older (given that women under this age are not generally recommended to receive BRCA1/2 genetic testing)
  • Completed full sequence or targeted genetic testing with a clinically confirmed BRCA1 or BRCA2 deleterious mutation identified
  • No personal history of breast cancer
  • English-fluent; the surveys were designed and validated in English and are not currently available in other languages. Translation of questionnaires into other languages would require reestablishing the reliability and validity of these measures. Therefore, participants must be able to communicate in English to complete the surveys.

Phase 2:

  • Female sex
  • Completed germline genetic testing with one clinically confirmed pathogenic/likely pathogenic variant in either of the following genes and with the associated age minimums:
  • BRCA1 and currently age 25 years or older
  • BRCA2 and currently age 25 years or older
  • ATM (all pathogenic/likely pathogenic variants EXCEPT for the variant ATM c.7271T>G \[p.Val2424Gly\]) and currently age 30 years or older
  • CHEK2 (all pathogenic/likely pathogenic variants EXCEPT for the variants CHEK2 c.470T>C \[p.Ile157Thr ; I157T\] and CHEK2 c.1283C>T\[p.Ser428Phe ; p.S428F\] and CHEK2 c.1427C>T \[p.Thr476Met\]) and currently age 30 years or older
  • PALB2 and currently age 30 years or older
  • No personal history of breast cancer
  • English-fluent based on self-report or the EMR; the surveys were designed and validated in English and are not currently available in other languages. Translation of questionnaires into other languages would require reestablishing the reliability and validity of these measures. Therefore, participants must be able to communicate in English to complete the surveys.

Критерии исключения

Phase I:

  • Previous receipt of any prophylactic mastectomy.
  • Major psychiatric illness or cognitive impairment that in the judgment of the study investigators or study staff would preclude study participation.
  • Any patients who are unable to comply with the study procedures as determined by the study investigators or study staff.

Phase 2:

  • Previous receipt of any prophylactic mastectomy.
  • Major untreated psychiatric illness or cognitive impairment that would preclude study participation.
  • Any patients who participated and received genetic risk modifier test results from Phase 1 of this protocol.

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Модель наблюдения
Когортное

Центры проведения

США · 7 центров
  • Dana Farber Cancer Institute (Data Collection Only) — Boston
  • Memorial Sloan-Kettering at Basking Ridge — Basking Ridge
  • Memorial Sloan Kettering Commack — Commack
  • Memorial Sloan Kettering Westchester — Harrison
  • Memorial Sloan Kettering Cancer Center — New York
  • Memorial Sloan Kettering Nassau — Uniondale
  • Abramson Cancer Center at University of Pennsylvania Medical Center (Data Collection Only) — Philadelphia

Идентификаторы

NCT: NCT03396341 · 17-489

Первоисточники (государственные реестры)

Открыть это исследование на ClinicalTrials.gov ↗