Kanser Ian Manusia ( 9 Jun 2021 )

Rawatan untuck Kanser

* the
genes must
through profiling
-

gone gene
of death in
apart from heart disease
2nd sarcoma
leading cause us adinoma
lymphoma
- -
.

, , ,

Can we cure cancer

?
-

Cure eliminates of from Infect other cells not like vines

body
:
all traces cancer = →

infect ✗
ensures it won't come back .
-

abnormal cell will divide by its own

remission a-
complete remission to
replicate i
Rapid proliferation by mitosis
↳ few aren't any detectable
lymphatic
↳
to no
signs signs cancer cells move
through blood or
-

of symptoms
BUT Not cure flow N move to other
organs
a .

cancer cells can still be there when

long time to become detectable
-

even -
takes a ,

it
complete remission can come back within better tech needed to detect that small
.

after treatment lump of

5 cancer cells
years .

currently , there's no true cure for cancer .

-

medication .

Chemotherapy hx lots of side effect as

* Immunotherapy * Gene therapy of

a lot normal cells are
dying too .

vaccines gene editing radiotherapy

-
=
-

T cell therapy virotherapy

-
-
-

monoclonal antibodies * Hormone therapy * How successful is

gene therapy ? corrected
*

Immune checkpoint inhibitors *

Nanoparticles specific gene ( amongst the thousands
-

can use
only one
-

of gene in cancer cells )

-
intensive ñ
expensive method .

stem
transplant for blood no it will be successful
cell cancer
guarantee
-

patient
-
: . .

leukemia , heamophilia ( chromosomal ] -

the
gene then need to enter and replace
disease
thalassemia . the same but abnormal gene in all of the cells .

will the be expressed ?

gene
-

Kanser

lerkawal Familial cancer

mem
bangi *
-

set termutasi cancer that runs in the family

-

-
.

environment
drugs
-

membesar i merebak spontaneous cancer

- -

, ,

( opposite )
-

Ign mempercepatkan pembahagian set -

carcinogenic .
induce mutation

diKawai BRCA 2 ↳ all of

Olen BRCA I hv the same chance
Kogen
-

on =
us

boleh to develop cancer

menyebabkan Iceman an jikatidak
- -

dirawat dari awal

Question How much we

at
high stage spread take into account the
-

to other
:
can
can organs
.
,

statement that people who detected cancer

* Konsep gene in their genetic makeup , not

necessarily
in formation starts from one will
get cancer in their lifetime
theory cancer
single cell
-
: .

case
mutation in its
genetic content CRAS mutation ) study Angelina Jolie
masectomy Drastic
?
:
. .
measure
P53 mutation

How they found RAS

oncogene ? [ Journal ] -

she has a
family history that have breast cancer -

1053 : tumor
suppressor gene .
it becomes
-

if tested = have it -

. our decision counts .

How its found tumor inducer

gene her decision within her
? =
right voluntary
-

*
chafing roles -

take into account the risk factor , it is high for

oncogene : normal
genes becomes abnormal her to cancer brave decision
get
.
.

For all of us
pntooncogen
i
gene tested i
pedigree analyzed
-

.
 Kanser Ian ManuSia I 16th Tune 20211

Slide Presentation :3 Minutes .

-
.
> One each

NO Qi A.
Genetic = Environment cause
clinical features / phenotype .

Type of cancers .

cystic male 1 female division .

treatment
frequency
coma
-

genetic testing

Map ? If its all over the

body .

Or absent in certain organ

.

Physiological ,
Ethnology .

* cancer Preventions * Intervention

don't use tobacco

-

can be individual or

protect skin from sun authorities

healthy diet
-

treatments provided
healthy weight active
-

ñ be physically
.

avoid
risky behaviors
-

get regular medical care

-

Prostate Removed

prostatectomy .

urinary incontinence :
unable to control urine

erectile
dysfunction :
impotence , problems gettin
i
keeping erections .

Interesting Facts

American Institute for cancer Research * many cases not related to inherited * PSA test

↳ No .
2 most common cancer in man gene charge . Checks the amount of prostate specific
-

after somatic blood T level

lung cancer . mutations in certain cells .

antigen in the . -

hu prostate
cancer .

Other Factors * metastatic cancers

high fat
-

diet tumors that * Gleason

-
-

smoking begin at one site scale

= then spread to other

after prostate biopsy
-

Obesity -

exposure to chemicals / toxic

areas of the body .

-
inflammation -

sexually transmitted classify the grade of pro cancer cells

-
.

infection 6
signs of
< = cells ✗ show
Vasectomy
-

inactive lifestyle
cancer risk IUW
nonaggressive
,
-

excessive alcohol use * =

Trans People aggressive

assigned male at risk can

develop .
Slow e- fast
growing
* Prostatectomy
lower the risk but part or all of prostate gland is removed
estrogen may
.
,

risk still present * autosomal dominant has not spread outsid →

radical ,

d entire removed
/ pattern
.

single copy
non * Prostate Biopsy
of the disease -

sex -

associated mutation
chromosome
help to confirm .
removes small piece
disease
enough →
of for examination
prostate gland .
 123rd June
Pregnancy Tests =
Screening 2021 )

Trimester
sampling aspirated
* First Screening -
Chorionic villus : for cytogenetic analysis
blood test check
sonogram genetics
=
-

,
.

down cord blood

it shows chromosomal abnormalities syndrome trisomy 13 etc
sampling
-

; percutaneous umbilical
. .
-
- :
,

noninvasive blood test 9 weeks 11 weeks blood collected from umbilical vein to detect fetal infections
sonogram
-

: = : ,
, .

'
thickness of fetal anemia chromosomal defects
maternity 21 test takes mother
baby's neck 12h sensitization or
-
: .
.
,

blood of baby 's DNA

look at
fragments
=

* Non-invasive Prenatal Testing

-

making an informed decision .

NIPT : blood test at 10 weeks to screen

genetic conditions

-
cell -
free DNA ,
mom 's blood contains DNA fragments
of Show its
baby's placenta DNA .
condition .

-
can determine the chance of certain genetic condition .

high / increased low / decreased

=
chance .

to FTS check
comparison protein markers i
-
:

ultrasound nuchal
translucency
.
.

but NIPT more accurate to test Down syndrome .

more definitive answer :

amniocentesis

hv risk of
miscarriage .

* Prenatal screening ,
fetal testing ,
and other tests

during pregnancy .

Ultrasound : 1st trimester .

gestational age .
Singleton vs multiple births .

3rd trimester assess well

being position / orientation
. - .

fetal anemia screen cardio

tocography
.
.

-
nonstress test : 20 min measurement
-
of fetal heart rate

cardio Nco for acceleration

graph , check .

contraction stress test assess how fetus will handle contractions of childbirth
-

:
.

asses for bradycardia i. decelerations .

Ct ) : at least half the contractions are followed

by
late decelerations .

biophysical profile Ultrasound measurements

-

:
combines NST ñ .

score based on 5 criteria .

diabetes screen diagnosis of diabetes 20 weeks

: >
gestation
.

rhesus screen : altoimmunization ,

if mom 12h
Ag negative i

baby is 12h
Ag positive if blood develop
mixing →
.

anti -
12h antibodies .
her immune system can attack

12h
Ag positive fetus → fetal anemia

anemia screen Hgb RBC mass / plasma volume in

pregnancy both increase
-
: =
.

if Hgb < 10 or Hct < 30 →

perform iron studies .

amniocentesis
sampling of small amount of amniotic fluid through
-
:

transabdominal needle
aspiration ,
after 16 weeks .

(
replaced in
quad screen = cell -
free DNA )
 Summary of Prenatal ( 24th June )
Diagnosis

Prenatal screening C
give mother ) after preparation for the need
-
to all
pregnant knowing
-
:

melibatkan
ujian genetic , ultrasound .
NIPT test
? → noninvasive : end the
pregnancy
prenatal
daran testing informed
ujian → fetal cell DNA from mother 's blood just want to be
-

i
,

family
→ test protein /
biochemical markers share it in members .

of fetus in mother 's blood all the tests are optional Know the
testing
-
.

:
quadruple test → maternal
serum
screening options i the pros / cons of each .

AAP total ACG if the partner hv / carrier

.
,
B- HCG etc .
-

family history .

Diagnosis
higher risk for the
pregnancy
.

Prenatal ( got from

~
high risk
screening ) Invasive genetic counseling usually covered by insurance
-
.

amniocentesis but for

not
necessarily genetic testing
-
.

-
cus

*
Interpretation of
screening test result

spina bifida -
down syndrome -

alpha
-
letoprotein

C false positive = false

negative )

* Genetic
counselling
some do
people choose not to
screening
-

be aware of biases Choices

your own =

positive NIPT is not

diagnostic .

Confirmatory test needed .

C invasive diagnosis )
-

informed choice : discuss benefits ,

risk , limitations of option .

autonomy patient
-

the hv all the

rights to choose the option
: .

shared decision in their

family members .

open the discussion =

understand / sensitive to
patient 's perspective .

they need to the before

proceeding the
-

in tests
agree
in
plan .
.

to the ( there's time window )

according pregnancy week .

gather info ask what woman / understand

the partner
-

, .

check
background of the counselee .

provide closure discuss follow up

-

-
.
,

* Genetic counseling for

Pregnancy
-
driven by patient 's question .

risk assessment
plan =
-
.

options available ?
-

health concerns .
What information they want .

recommend to
helpful if partner
-

come :
can come .

family history for conversation .

pedigree done .

siblings ñ
parents .

risk assesment .

understand
- how to the
family history :
depends on the patient 's
knowledge =
curiosity .

r screenits
choose test that for the
make sense patient
-

-
diagnosis
less expansive noninvasive
screening
-
no risk
:
to
-

, ,

pregnancy
✗ false / ve more
testing
: +ve -

diagnosis highly accurate

-
- :

✗ invasive risk of
pregnancy
:
, loss
 Ethical
Psychological Issues
,
legal ñ

* consent to
being screened : -

patient need to be
sufficiently informed

C communication ) , implication of genetic screening

.

of the
voluntary nature
screening process must
-

be
emphasized -

counseling
*

to reduce
psychological distress
-

potential .

to
provide information about
genetic risk
-

explain choices
regarding genetic testing
i

support is needed for individuals who need

consider
stigma disclosure
to issue such as

to
family members =
confidentiality -

couple known gene detect counseling

-

:
abt their

reproductive option . it is considered as the

risk for the
-
Pregnancy
prenatal diagnosis =
possible pregnancy terming,.cm .
to
carry abnormal fetus
is
high .

pre
-

implantation genetic diagnosis .

→ when confirmed ②
abnormality in the couple
q
.

check genetic
now it
to the embryo ①
.

relates to decide whether to terminate

reproductive or not .

③
option
reproductive option
-

continue C
during pregnancy
→
or terminate
pregnancy
-

keep or not )

done influence the option

prenatal testing .
to .

the couple decide themselves

it
by
.

reproductive option choose to have or not

→
pregnancy
.

→
adoption sperm / egg donor IVF Ctest
before
'

pregnancy
,

abnormalities )
pre implantation genetic diagnosis
-

can use
surrogate mother if mother 's body at risk .

* Risk of stigma .

understanding of genetic may be limited = can lead to

stigma
.

misunderstanding stress fear , worries trauma

stigma ✓ personal , economy
-

, , , ,

burden
the
couple may faced :
expensive treatment .

what is → risk children to hv passed

public misunderstanding
-

the condition .

on
genetic risk for child to develop disease 7
- →
lifestyle choices : food consumption
cannot lead a normal

breeding
-

EugeneSis : Selective .

perfect human . life after birth .

huge adjustments .

→
life expectancy :
shorter lifespan or
longer
eufenes.is )
. .

It is not How to C not

.

explain ? but in the

right accomodities .

improve the livelihood of affected life

the can
longer
- .

of decision hx children between partners no

good life
→
chance
healthy agreement
- :
a
. .

.
.

Clashing decide on a decision

-

choice are given to be

-

=
open choosen .

by the couple .

healthy babies more than perfect

-

important babies .

confidentiality .

result of genetic confidential

testing is
-
-

doctor disclosure
patient relationship protect against
-

advice of information Coli rect

give relevance )
-

in
can
sharing
.
 G- enetik
Kaunseliy .

PerKara
yg Diperlukan

e- pertoloyan / bannan
Fasi titi
bilikjauhdrpal
*
1-
, kemudahan Human ethical considerations

temp at lain comfortable -

yg
.

sesi , Max .
45 minit . -
Genetic kaunselor need to settle the issues

Tilak berlebihan Whether the counsel ee want to test or not

perla perabot
.

Panth
'

which one etc .

Bawa anak lain → staff pembantu .

Ice tcmpat main an / rehab

-

stigma .

Need to be explained i addressed .

Benefit of
limitation
testing
-
= .

2-
Greetings .

Dapatkan pedigree . if counselee hv

T
misunderstanding , -

Ethel :
sign consent form blood withdrawal
3-
Teraifkan the genetic risks Explanation
.

address
. .

counselor will

for further
Bercakapsetaraftahap akademik kaunseiiy .
it t
explain it .

testings .

lstilah Sains
perla dimudahkan Utk penanceman .

4-
consider options on tests etc .
Treatment options .

5-
Response yg membantu . Advice suitable .

5th
July : Molecular Detection .

Non carrier
- :
1- ( the probability)
3
-

Essential of Medical Genetics .

4 one allele from mother

↳ one allele from father

-

Bayesian Analysis in 2 column 4 none allele taken

-
.

Prior risk ✗ Conditional Risk

Total risk for = Total risk for

carrier non -
carrier

give in
probabilities
-

percentage . or .

*
Prior based if
they would / chromosome )
risk :
on
pedigree . call ele

carry on / inherit from family members .

carrier or non - carrier

* conditional : other information .

result from children .

risk
or other tests .
T info ,
T
accuracy .

C l , 2 . 3)

-
Genetic test on either or both of the parents ,
the

of
ethnic
background each
parent ,
the overall mutation

for frequency
detection rate each
parent 's ethnicity e- the

of the mutation .

obligate carrier : confirmed carrier

( autosomal recessive hard to confirm

carrier or not .

but for ✗ -

linked , can be used )

based no of
- on
progeny
-

}
if of carrier
3 Children normal →
1%7 chance
unaffected