Reparación de ADN por mutaciones de genes BRCA1 y BRCA2 y nuevas perspectivas farmacológicas

1. Juan José Pino Vélez
Medicine Student
Third Semester

4. A gene mutation is an alteration in the
DNA sequence and this sequence
differs from what you found in the most
people
Gene modulation is a practice or a
treatment to alter the expression of a
gen in one of different stages, with a
purpose delete some diasease.

5. Ovarian reserves lower in BRCA1
mutation carriers
Healio
(2016, July 18)

6. Ovarian reserves lower in BRCA1 mutation carriers
The BRCA1 and the BRCA2 have a big
importance about the division cycle control
so if someone have germline mutation in
this genes they increase the risks for ovarian
an fallopian tube cancer.

7. Ovarian reserves lower in BRCA1 mutation carriers
A woman who have a germline mutation in
BRCA1 or BRCA2 can`t stop efficient the
division cycle (oogenesis), so she can make a
wrong oocyte and we can see that if she be
pregnant, because her child can have number
or structure chromosome problems.

8. Ovarian reserves lower in BRCA1 mutation carriers
The indicator of egg count is the
concentration of anti-Müllerian
hormone. And with this they compare
how eggs are in different ages (25-45)
and when the woman who have the
mutation have more eggs to be
pregnant and avoid some genetic
diseases.

9. Ovarian reserves lower in BRCA1 mutation carriers
Student`s observation:
I think that with this type or studies the
health personnel can guide the pregnancy
process in woman with this mutation
because if they do this guide well they
save many complications and they can give
an advice to this girls to when they can be
pregnant and when not.

10. New drug gene mutation
combinations that can kill
cancer cells
News medical life sciences
and medicine
(2016, July 22)

11. The gene mutation in a cancer can do two things
Increase cell growth Prevent cell death
They want to develop therapies that restore
malfunctioning genes.
New drug gene mutation combinations that can kill
cancer cells

12. These scientists are studying many drugs or
many molecules who are include in the FDA
and how this molecules affects the cancer
process with a simultaneous disruption of
the gene mutation in a specific cancer
New drug gene mutation combinations that can kill
cancer cells

13. New drug gene mutation combinations that can kill cancer
cells
They are searching a genetic interaction
between a tumor suppressor gene and another
gene and with this interaction they want to
find and special combination that can “fight”
and kill the cancer cells.
The another gen is a druggable
target like a shield for the
tumor suppressor

14. New drug gene mutation combinations that can kill cancer cells
Student`s observation:
This studies can bring many advances in the
pharmacologic treatment of the cancer, because
every day many scientists are searching with the
authors of this investigation different combinations
of typical medicaments that can do better the
“fighting” with many pathologies like cancer.
This is important because 39 percent of
the population will receive a diagnosis of
cancer some time in their life

15. Medical Utility

16. Medical Utility
Both studies are searching more
information about the cancer
treatment and more information
about this process like when a woman
with a BRCA1 or BRCA2 mutation can
be pregnant so the cancer process are
reaching everyday more importance
for the health sector.

17. Medical Utility
The pharmacology are going
forward to a new
pharmacologic treatment that
have some interesting things
like a personalized treatment.
This is thanks the karyotype
and there a genetics can find
some information about what
type of medicaments are
better for the patient and for
his disease.

18. Medical Utility
With these combination of
studies about many topics that
are related of the medicine we
can do better us work and we
can help many patients and we
can get to there a better
quality of life.
In the future the doctors will
do many procedures more
exactly and they don´t have
to do trial and error

19. Bibliography
 Medical, N. New drug-gene mutation combi-nations that can kill cancer cells. [Internet].
News medical life sciences and medicine; 2016 [last research July 25 of 2016].
Available in: http://www.news-medical.net/ news/20160722/Study-uncovers-new-drug-gene-
mutation-combinations-that-can-kill-cancer-cells.aspx
 Phillips, K.-A. Ovarian reserves lower in BRCA1 mutation carriers. [Internet]. Healio; 2016
[last research July 25 of 2016].
Available in : http://www.healio.com/hematology-oncology/breast-cancer/news/in-the-
journals/% 7B0944d956-84de-4ab4-ab3a-12eff0d56cb6%7D/ ovarian-reserves-lower-in-
brca1-mutation-carriers
 MARTINEZ SÁNCHEZ, Lina María. Biología molecular.8. ed. Medellín: UPB. Fac. de
Medicina, 2006. 109 p.