Transcript Angelina Joliex

Angelina Jolie
The White Coat Wonder
Rational
 The
purpose of our research is to enrich
the Premed-A community with the
knowledge of other cancers caused by
genetic factors, relating specific
biological functions affected by these
cancers to genetic interactions seen in
the presence a BRCA-1 mutation, or other
inherited cancer causing genes.
BRCA1 and BRCA2
 Both
BRCA1 and BRCA 2 are genes that
produce tumor suppressor proteins which
help in the repair of damaged DNA in the
body.
 An alteration to one of these genes
affect the function or production of the
proteins, which will cause damaged DNA
to stay untreated.
Statistics
 Mutations
on BRCA1 and BRAC2 result in
an increase risk to breast and ovarian
cancer for females, account for 20%-25%
of hereditary breast cancers.
 There is a 50% chance of inheriting the
mutated gene from a parent who
possesses the mutated gene, and yes,
males are at risk of being diagnosed with
a mutated gene.
Li-Fraumeni Syndrome
 Li-Fraumeni
syndrome is a rare disorder
caused by a genetic mutation on the
CHEK2 and TP53 genes, resulting in a
higher risk for developing many types of
cancers.
 Li-Fraumeni is more common in children
and young adults, affecting 400 people
for ever 64 families.
TP53 and CHEK2
 The
mutation of TP53, a tumor suppressor
gene, seizes in helping cells grow and
divide. Due to this uncontrollable division,
cells are likely to form tumors.
 CHEK2, a tumor suppressor gene, which
when appearing in the mutated form
causes Li-Fraumeni along with increasing
the risk of other cancers such as breast
cancer.
Retinoblastoma
 Retinoblastoma,
RB, is a childhood cancer
that develops in the retina, where there is
specialized light sensitive tissue at the
back of the light that is responsible for
light and color.
RB1
 Mutations
in the RB1 gene are inherited in
an autosomal dominant pattern.
 The RB gene is located on the long arm of
chromosome 13, playing a role in growth
and development.
 The way the gene functions is similar to
BRCA 1 and BRCA 2, so once they are
mutated, they lead to cancer.
Lynch Syndrome
 Lynch
Syndrome is an autosomal
dominant genetic condition of the
digestive tract, also known as hereditary
non-polyposis colorectal cancer
(HNPCC), which increases the risk of colon
cancer as well as many other cancers
MLH1, MSH2, MSH6, and PMS2
 The
MLH1, MSH2, MSH6, and PMS2 genes
are responsible for repairing mistakes that
occur during the process of DNA
replication, so when those genes are
mutated, the proper repair of DNA
replication mistakes are prevented. As
these mutated cells continue to divide,
the collected mistakes can lead to an
uncontrolled cell growth and possibly
cancer.
Similarities
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All the possible inherited cancers mentioned
are similar for the following reasons.
1. All the inherited cancers have mutated
genes that are autosomal dominant genetic
conditions.
2. The genes related are tumor suppressors.
3. The mutation of the gene seizes the repair
of damaged DNA in the body, resulting in
tumors.
Questions
 1.
Given that both genders are equally
affected by Lynch Syndrome, and that
tumor suppressor genes are mutated in
both diseases, why are women more
susceptible to breast cancer (mutation of
BRCA 1/BRCA 2) over men, other than the
reason of differing estrogen levels in both
genders?
 2. Is it possible to reverse a mutated gene
and bring it back to its original function?
Citations
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http://www.ambrygen.com/tests/retinoblastoma
http://www.medscape.com/viewarticle/491384_2
http://ghr.nlm.nih.gov/condition/retinoblastoma
http://ghr.nlm.nih.gov/condition/li-fraumenisyndrome
http://p53.free.fr/Database/p53_cancer/p53_ger
mline.html
http://www.cancer.org/cancer/ovariancancer/d
etailedguide/ovarian-cancer-what-causes
http://www.cancer.net/cancer-types/lynchsyndrome
http://ghr.nlm.nih.gov/condition/lynch-syndrome