This document summarizes two genetic studies on cancer. The first study mapped genetic mutations in cutaneous melanoma and identified four subtypes. It also found a protein related to immune response that is overexpressed in melanoma cells. The second study linked a genetic variation in the FOPNL gene to poorer survival rates in multiple myeloma patients, but the mechanism is still unknown. Both studies help locate genes of interest and their variations in diseases, which can inform targeted cancer therapies and improve patient outcomes.

1. Manuela Guzmán Castañeda
Teacher: Lina Martínez Sánchez
Molecular biology
GENETIC MAPPING

4. INTRODUCTION
Genetic mapping is a
way to know where is a
specific gene in a
chromosome.
When a gene mutation
is relate with some
disease, like FOPNL in
multiple myeloma.

5. Multi-institution, international effort of
The Cancer Genome Atlas (TCGA).
Lineberger Comprehensive Cancer
Center
(2015, June 18)

6. GENETIC ALTERATIONS FOUND IN CUTANEOUS
MELANOMA
• The researchers identified
four genomic subtypes of
the melanoma studying
the mutations.

7. GENETIC ALTERATIONS FOUND IN
CUTANEOUS MELANOMA
• The genetic map that they
found help to take some
decisions refer to the
treatment of the patients.

8. GENETIC ALTERATIONS FOUND IN
CUTANEOUS MELANOMA
The researches found a
PD-L1 protein related to
the inmune response,
overexpressed by
melanoma cells.

9. GENETIC ALTERATIONS FOUND IN
CUTANEOUS MELANOMA:
Student´s observation
I consider this study really
important, it gives gene information
of the most lethal cancer that can be
used to create new targeted
treatments. Also gives information of
the inmune response so the patients
can be treated
with immunotherapies too.

10. Poor survival in multiple myeloma
linked to genetic variation.
Huntsman Cancer Institute at the
University of Utah
(2015, July 22)

11. POOR SURVIVAL IN MULTIPLE MYELOMA
LINKED TO GENETIC VARIATION
This study have the
colaboration of lots of
scientists because it´s a
subject that can increase the
survival of patients with this
type of cancer.

12. POOR SURVIVAL IN MULTIPLE MYELOMA
LINKED TO GENETIC VARIATION
Patients with a genetic variation in
the gene FOPNL die earlier than
patients that doesn´t have it, but
scientist can´t explain yet the
mechanism of this.

13. POOR SURVIVAL IN MULTIPLE MYELOMA
LINKED TO GENETIC VARIATION
The results of this study is very
usefull but until now is a mystery
how it works FOPNL, scientist just
have a clue with centrosome
amplification.

14. POOR SURVIVAL IN MULTIPLE MYELOMA
LINKED TO GENETIC VARIATION:
Student´s observation
I think this study is overstandig
because is openning some doors to do
new investigations around one of the
main fields in science now, cancer.
The new investigations based on this
one can give a better survival hopes
to the patients.

15. MEDICAL UTILITY

16. MEDICAL UTILITY
Both investigations where based in
the location of the gene of interest,
their variations in differents diseases
and the relation with the effect in
patients.

17. MEDICAL UTILITY
I consider this studies a big advanced to
science, because it determinated where is
the gene in the genoma and finally with
this information can do target therapies
that has better impact in patients.

18. MEDICAL UTILITY
The science has developed a lot of treatments lately,
but I think the best one is target therapy, that´s why
we need to do more studies of this type.

19. BIBLIOGRAPHY
• University of North Carolina School of Medicine. (2015, June 18). Mapping
genetic mutations in skin cancer. ScienceDaily. Retrieved August 11, 2015
from www.sciencedaily.com/releases/2015/06/150618150346.htm
• Huntsman Cancer Institute at the University of Utah. (2015, July 22). Poor
survival in multiple myeloma patients linked to genetic
variation. ScienceDaily. Retrieved August 11, 2015 from
www.sciencedaily.com/releases/2015/07/150722082041.htm
• MartinezSanchez, Lina Maria. Biologiamolecular.9.ed.Medellin: UPB.