Risk Assessment

Risk assessment is one of the most complicated components of the genetic counseling session. It
is crucial to remember that risk assessment changes over time as the person ages and as the
health status of their family members change (Table 32.2).
Table 32.2 Cancer Genetic Counseling and Testing Resources
CancerNet
(800) 4-CANCER
http://www.cancer.gov/search/geneticsservices/
A free service designed to locate providers of cancer risk counseling and testing services.
FORCE
(866) 824-RISK
(866) 824-7475
http://www.facingourrisk.org/
A non-profit organization that offers education and support to individuals who are at risk for,
or are known to carry,BRCA mutations.
GeneTests: Genetic Testing Resource
(206) 616-4033
http://www.genetests.org
Offers current information on laboratories and testing availability for specific conditions.
National Society of Genetic Counselors
(312) 321-6834
http://www.nsgc.org
For a listing of genetic counselors in your area who specialize in cancer.
Risk assessment can be broken down into three separate components:

What is the chance that the counselee will develop the cancer observed in his or her
family (or a genetically related cancer)?

What is the chance that the cancers in this family are caused by a single gene mutation?

What is the chance that we can identify the gene mutation in this family with our current
knowledge and laboratory techniques?

Cancer clustering in a family may be due to genetic and/or environmental factors or may be
coincidental because some cancers are very common in the general population. Although
inherited factors may be the primary cause of cancers in some families, in others, cancer may
develop because an inherited factor increases the individual's susceptibility to environmental
carcinogens. It is also possible that members of the same family may have been exposed to
similar environmental exposures, due to shared geography or patterns in behavior and diet, that
may increase the risk of cancer.17 Therefore, it is important to distinguish the difference between
a familial pattern of cancer (due to environmental factors or chance) and a hereditary pattern of
cancer (due to a shared genetic mutation).
Several models are available to calculate the chance that a woman will develop breast cancer.
Each model has its strengths and weaknesses, and the counselor must decide which model is
most appropriate for each individual family. The Gail model takes into account current age, age
of first menses, age at first live birth, and number of previous breast biopsies when calculating
risk.18 Although this model has utility in determining entry for clinical trials, it is not appropriate
in families in which there is a question of a hereditary cancer syndrome. The Gail model
considers only first-degree relatives in its calculations and, therefore, does not take into account
paternal family history and extended family members. It does not weigh age of breast cancer
diagnosis, ovarian cancer, Jewish ancestry, male breast cancer, and other factors essential in
hereditary risk assessment and is therefore not the appropriate tool when hereditary cancer is in
question.
The Claus model allows calculation of a woman's empiric chance to develop breast cancer, by
decade and lifetime, based on some maternal and paternal family history.19 This model does not
take ancestry, ovarian cancer, or extended family history into account and is therefore not useful
in families in which there appears to be a genetic mutation. Of course, all empiric risks are moot
in families in which DNA testing has revealed a mutation for cancer predisposition.
There are several other models, including a computer-based model, available that help to
determine the chance that a BRCA mutation will be found in a family.20 These models can be
helpful in determining the probability that a mutation will be found, but cannot factor in other
risks that may be essential in hereditary risk calculation (e.g., a sister who was diagnosed with
breast cancer after radiation treatment for Hodgkin's lymphoma).

BUAT BAB 1
Pendahuluan
- Definisi kanker
- Epidemiologi kanker (maksudnya yang terbanyak apa)
- Prognosis jika lambat ditangani. Intinya semakin cepat dideteksi hasilnya akan semakin
bagus
- Further, perlu adanya pemeriksaan genettika sebagai langkah prevensi
- Tapi ada banyak model, menentukannya itu yg sangat penting
Rumusan Masalah
- Apa saja model-model risk asesment breast cancer
- Komparasi
- Yang terbaik berdasarkan evidence based