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Scientific Writing BBS1005 (BRCA Genes)
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The effects of the T to C substitution within exon 21 of theBRCA2 gene on breast and endometrial cancer development
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Tutorial group …
Faculty of Health, Medicine and Life Sciences (FHML)
Maastricht University
Course BBS1005
Date:
, Introduction cancer. The findings concerning the relation between
BRCA mutations and the development of endometrial
Breast cancer is the most prevailing cancer in women, cancer have been opposed. Some studies such as ‘’
since about 30% of all diagnosed female cancer patients BRCA1 and BRCA2 pathogenic variant carriers and
in the United States have breast cancer [1]. When looking endometrial cancer risk’’ [5] show that there is no
at the statistics in the United States alone 13% of the significant increased risk of endometrial cancer when
women will develop breast cancer during their lifetime BRCA genes are mutated. On the other hand, others
[1]. Taking a more global approach regarding the studies like ‘’ Endometrial Cancer Risk in Women With
statistics around breast cancer, it shows that in 2020, Germline BRCA1 or BRCA2 Mutations’’ [6] show that
there were 2.3 million women diagnosed with breast there is an increased risk of endometrial cancer when
cancer and 685.000 women passed away due to breast BRCA genes are mutated. A meta-analysis done by
cancer [2]. The way breast cancer develops is due to researchers that combined multiple studies found that
mutations in the BRCA1 and BRCA2 genes. The BRCA1 there is indeed an increased risk of endometrial cancer
and BRCA2 genes are tumor repressor genes, and their that comes along with BRCA mutations, but the absolute
role is essential to one’s normal functioning due to the risk is low [7]. Understanding the manner in which
fact that they repair damaged DNA [3]. Mutations in the mutations are detected is very important for future
BRCA genes can happen in two ways either familial, development of possible measures of precaution that
which is when a germline mutation is passed over to the could potentially reduce the risk of developing any form
offspring, or sporadic, which is a mutation in one person of cancer. For that reason, the aims of this study include
that can potentially be passed over to the offspring [4]. improving the understanding of pure DNA isolation and
When a person inherits the BRCA1 or BRCA2 mutation analysis for mutations using PCR, restriction analysis and
from either their mother or father this does not cause a gel electrophorese. Furthermore, the focus of this study is
problem yet, because there are two copies of the gene, also centered around the evaluation of sporadic and
which means they will still have a properly working hereditary mutations in the BRCA genes in relation to the
BRCA gene to compensate for the mutated one. The endometrial cancer risk, hereby specifically looking into
problem arises when a sporadic mutation in the second the T to C substitution within exon 21 of the BRCA2
copy occurs, hereby disabling the tumor suppressor genes gene.
completely. In contrast to the hereditary mutation that is
found throughout the body, the sporadic mutation will Materials and methods
only be found in the cancer tissue itself [4]. The
likelihood of being diagnosed with breast cancer is During this research there were two populations studied.
substantially higher if the person is a BRCA1 or BRCA2 For the first part regarding the pure DNA isolation a
mutation carrier. In contrast to the 13% of women group of 337 first year Biomedical Sciences students was
developing breast cancer during their lifetime, about 55% used. All of these students studied at the University of
to 72% of BRCA1 mutation carriers develop breast Maastricht. The second part of this research concerned
cancer, and about 45% to 69% of BRCA2 mutation the relationship between the risk of endometrial cancer
carriers develop breast cancer in their lifespan [3]. The due sporadic and familial mutations in the BRCA gene.
substantial increase in the development of breast cancer During the second part a study population of 100
in BRCA mutation carriers shows the importance of Romanian women was used, from which 50 had familial
detecting these mutations early on as a precaution to endometrial cancer and 50 has sporadic endometrial
developing breast cancer. Since proper treatment is very cancer. The women had a ranging age from 49 to 61,
important in the reduction of breast cancer fatalities, the with a mean of (55.3 +/- 2.9).
World Health Organization (WHO) is actively trying find DNA isolation & analysis
new treatments to reach a 2-4% annual reduction quota in
fatalities [2]. If these quotas would be met this could A sample of buccal cells, which was obtained by means
result in the prevention of 2.5 million breast cancer of scraping the cheeks along the teeth in order to loosen
deaths between 2020 and 2040 [2]. the buccal cells, and were transferred to a tube by means
of rinsing with a PBS solution, was utilized to isolate the
Mutations in the BRCA genes are not only connected to DNA. The sample was mixed with a PBS solution, and
the development of breast cancer, but they are also the combination was centrifuged at 3500 rpm for 10
speculated to play a role in the formation of endometrial minutes in order to produce a pellet of these cells. The
2
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