Clinical Trial Details
— Status: Active, not recruiting
Administrative data
| NCT number |
NCT05748353 |
| Other study ID # |
4472 |
| Secondary ID |
|
| Status |
Active, not recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
January 1, 2012 |
| Est. completion date |
July 15, 2024 |
Study information
| Verified date |
April 2024 |
| Source |
Fondazione Policlinico Universitario Agostino Gemelli IRCCS |
| Contact |
n/a |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
The aim of the study is to evaluate the role of lifestyle and environmental factors (
environmental contaminants such as Cd) on the penetrance of BRCA1/2 genes in BRCAm patients
with Breast cancer and/or Ovarian cancer and in BRCAm healthy women without cancer diagnosis
Description:
Breast cancer (BC) is the most frequent neoplasm in women; the lifetime probability of
developing invasive breast cancer is estimated to be 12.8%. Ovarian cancer (OC) represents
the second most common type of gynecologic neoplasm, with an incidence of about 1.5%. A
sedentary lifestyle and being overweight seem to play a role in the development of these
diseases; an increase in body mass index (BMI) of 5 units is correlated with a 12% increased
risk of developing BC and 7-10% increased risk of developing OC. Exposure to environmental
toxic factors, such as Cadmium (Cd), has also been found to play a role in the development of
BC and OC. Indeed, it has been shown that Cd is involved in the pathogenesis of these
neoplasms as it would act as an endocrine disruptor: through binding to the estrogen receptor
it would determine its activation thereby promoting cell proliferation. Cd is released into
the soil, water and air from natural sources but, most importantly, as a result of industrial
processing the processing of nonferrous metals, the production of batteries and paints, the
production and application of phosphate-based artificial fertilizers, the use of coal and
petroleum, incineration and waste disposal. The general population may be exposed to Cd
through: contaminated food and drinking water; cigarette smoking (active and passive), as
tobacco leaves accumulate Cd from the soil; and inhalation of dust and fumes, especially for
people living near industries that process or emit Cd. At the same time, it is well known
that genetic factors are also related to the pathogenesis of BC and OC. In about 20% of
patients with triple-negative BC and 20-25% of women with high-grade serous OC, a
pathogenetic variant of these genes can be found. In subjects carrying constitutional
pathogenetic variants (VPs) in the BRCA1/2 (BRCA1/2m) genes, the absence of repair of damage
to the DNA double helix causes its accumulation favoring the development of neoplasms. This
results in individuals carrying these variants having a cumulative risk of developing BC of
72% in the case of BRCA1 and 62% in the case of BRCA2. With regard to OC, the risk associated
with the presence of VP in the case of BRCA1 is 44% and 17% in the case of BRCA2. These
observations are consistent with the hypothesis that genetic risk related to cancer
development is modified by environmental or other molecular factors. Several studies have
evaluated factors such as lifestyle, overweight, weight gain, and physical inactivity as
potential risk elements of BC or OC in BRCA1/2m mutation carriers. The aim of this study is
to evaluate the possible interference of environmental factors in the development of BC or OC
in women VP carriers of BRCA 1 and BRCA 2
