You are a genetic counselor whose job is to advise patients of the risk for an i
ID: 126888 • Letter: Y
Question
You are a genetic counselor whose job is to advise patients of the risk for an inherited disorder and discuss appropriate testing options and treatments. Your patient is Bob S who is 45 years old and in good health. His wife Jane, is 42 and also in good health. Bob and Jane have a nineteen-year-old son Steven, and a twenty-one year old daughter, Claire. Bob explains that he has a sister Susan (currently age 50) who was diagnosed with colon cancer at age 42. His brother, Marshall, is 47 and last year was also diagnosed with colon cancer. Bob’s last sibling is a 38 year old sister named Sara. Bob’s parents both died young - his father Robert was killed in the war at age 35 and his mother Elizabeth was killed in a car accident at age 40. Elizabeth has a brother Stan who is 70 and was diagnosed at age 50 with colon cancer. Elizabeth also had three sisters and two brothers, all of whom are living. Bob’s maternal grandmother died at age 42 with a “female” cancer and his maternal grandfather died at age 85. Bob’s father Robert had three brothers who are deceased and three sisters, still living. Bob’s paternal grandparents both died in their 60’s, causes unknown. Bob’s wife Jane S. reports two brothers - one who has two sons and one with a daughter. Jane also has a sister who has three daughters. Jane’s parents are living – her mother Roberta is 67, and Herschel, her father is 70. Roberta has three living sisters, two living brothers, and a brother who died in his 70’s from a heart attack. Roberta’s parents (Jane’s maternal grandparents) are deceased, grandfather at age 65 from a heart attack and grandmother at age 75 with breast cancer. Herschel has two deceased sisters and a 78 year old brother named Warren who was diagnosed four years ago with colon cancer. Herschel’s parents are deceased, his father at age 80 and mother at age 75. Both Bob and Jane are African American. There is no other known cancer on either side of the family.
After constructing the pedigree, describe Bob’s risk for colon cancer. Describe Jane’s risk.
As Bob’s genetic counselor, what issues might you chose to discuss with Bob?
Is there anyone on either side of the family you’d like to nd out more about to help support your views on a possible inheritance pattern for this cancer?
What is the relationship between cell cycle regulation and cancer? What makes a cancerous cell different from a normal cell?
Explanation / Answer
1.One of the risk factors for colon cancer is a family history of the disease.It is called hereditary or inherited when several generations of family have this kind of cancer.In case of bob,most of the family members are affected with this cancer and they are related somehow in causing cancers.Risk factor is more for bob,as he may be a carrier to his children or the inherited person as several gene mutations or abnormalities causes colon cancer,and allowed to be transmitted to family members..Janes risk has also a possibility to get a cancer as her maternal grand parents are affected with cancer.
2.As a genetic counselor, i would like to explain him about the risk of colon cancer and to create awareness regarding the disease.Nonpolyposis colorectal cancer is the most common forms off heriditary colon cancer.Atleast three family members in two generations can develop this cancer before they age 50.They also have a risk of developing other lynch syndrome related to cancers.This kind of awareness should be given to him and his wife too as their children are also at a great risk of triggering this cancer.
Being overweight or obese,no physical activity,unhealthy diet intake,smoking ,alcohol also creates a high risk to colon cancer,so they should be given a proper diet plan,exercise frequency and advice them to avoid alcohol intake.
Cancer is basically a disease of uncontrolled cell division.Its development and progression are usually linked to a series of changes in the activity of cell cycle regulators.For example,inhibitors of the cell cycle keep cells from dividing when conditions arent right ,so too little cativity of these inhibitors can promote cancer.Similarly positive regulaors of cell division can lead to cancer if they are too active.In most cases these changes are due to mutations in the genes that encode cell cycle regulator proteins.
cancer cells are often abnormally shaped and the nucleus also has abnormal appearance.
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