Идёт набор NCT06775470

Impact of Different BRCA1/2 Gene Variants on Response to Therapy and Prognosis of Ovarian Cancer

— Наблюдательное Ovarian 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: Patients must have been diagnosed with ovarian cancer and be BRCA positive, BRCA1 and BRCA2 positive, and be affected by Ovarian Cancer.
Кому может быть актуально: Состояния в реестре: Ovarian Cancer. Базовые параметры: Без ограничений · 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: Италия
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Официальное название

Impatto Delle Diverse Varianti Dei Geni BRCA1/2 su Risposta Alla Terapia e Prognosi Del Carcinoma Ovarico

Обзор

Identify any significant differences in terms of drug response and survival between the different possible alterations in the BRCA1/2 genes, in order to stratify ovarian cancer patients with a view to increasingly personalised and thus effective therapy.

Подробное описание

Ovarian carcinoma (OC) is the leading cause of death among gynaecological neoplasms. It is, in fact, a neoplasm that is not very frequent but highly lethal: in Emilia-Romagna, the incidence is about 17 cases per 100,000 inhabitants and the mortality rate is around 15 cases per 100,000, with a very high mortality/incidence ratio (0.83). The high mortality rate is mainly due to the fact that, due to the non-specific and late symptoms, 75-80% of patients arrive at the diagnosis at an advanced stage of the disease (III-IV), characterised by a 5-year survival of less than 25%.

The primary therapeutic approach for this tumour is a combination of debulking surgery and platinum-based chemotherapy generally associated with taxanes, while as far as maintenance therapies are concerned, PARP inhibitors (PARPi), drugs capable of blocking a DNA repair mechanism alternative to that of homologous recombination, have been gaining in importance in recent years. They have proved particularly effective in tumours that present alterations in the BRCA1 and BRCA2 genes, which are key players in homologous recombination. For this reason, the detection of mutations in the BRCA1 and BRCA2 genes is predictive of the efficacy of PARPi maintenance therapy and, consequently, as of 2015, the BRCA test has been indicated in all women newly diagnosed with ovarian cancer (excluding borderline and mucinous forms), possibly from tumour tissue, given the evidence that in addition to constitutional (inherited) variants, somatic variants (acquired and tumour-confined), present in about 9%, are also associated with a PARPi benefit.

Recent data, however, have challenged the assumption that functionally significant variants for which a predisposing role has been demonstrated for hereditary breast and ovarian cancers are necessarily predictive of drug response. Furthermore, the fact that somatic mutations are present in only a limited fraction of the DNA copies analysed in a tumour suggests that there may be residual BRCA activity that compromises effective PARPi activity.

Вмешательства

Диагностический тест Patients must have been diagnosed with ovarian cancer and be BRCA positive
Patients must have been diagnosed with ovarian carcinoma by 31/12/2021, have undergone BRCA testing at the UOC of Medical Genetics of the IRCCS AOU of Bologna Policlinico S. Orsola by 31/12/2021 and have been taken on for follow-up and/or treatment at the Medical Oncology - Zamagni and/or Gynaecological Oncology - De Iaco of the IRCCS Azienda Ospedaliero-Universitaria (AOU) of Bologna for a period of time of at least 1 year and by 31/12/2021 and for a minimum period of 6 months.
Диагностический тест BRCA1 and BRCA2 positive, and be affected by Ovarian Cancer
Patients must have been diagnosed with ovarian carcinoma by 31/12/2021, have undergone BRCA testing at the UOC of Medical Genetics of the IRCCS AOU of Bologna Policlinico S. Orsola by 31/12/2021 and have been taken on for follow-up and/or treatment at the Medical Oncology - Zamagni and/or Gynaecological Oncology - De Iaco of the IRCCS Azienda Ospedaliero-Universitaria (AOU) of Bologna for a period of time of at least 1 year and by 31/12/2021 and for a minimum period of 6 months.

Первичные конечные точки

Differences in BRCA1/2 status for predictive response to chemotherapy [Срок оценки: 12 months]

Вторичные конечные точки (1)

Differences in response to chemotherapy based on BRCA variant [Срок оценки: 12 months]

Критерии участия

Критерии включения

ovarian cancer diagnosis by 31/12/2021;
BRCA test at the UOC of Medical Genetics of the IRCCS AOU of Bologna Policlinico S.Orsola by 31/12/2021;
follow-up and/or treatment at Medical Oncology and/or Gynaecological Oncology of the IRCCS Azienda Ospedaliero-Universitaria (AOU) of Bologna for a period of time of at least 1 year and by 31/12/2021 and for a minimum period of 6 months