olon Cancer Case: Sally is 25 years old and she has been referred for a genetic
ID: 3513818 • Letter: O
Question
olon Cancer Case: Sally is 25 years old and she has been referred for a genetic evaluation due to a family ry of colon cancer (CRC) and other cancers (UT-uterine cancer). Her father is 50 and has a history of small bowel cancer (SBC) and colon polyps ** Slides from class provide helpful information for this case. 11/11/2004 Diagnosis - Polyps Diagnos's CRC Diagnosis Other Ca Note: This symbol does NOT indicate a carrier individual. Other Co UT Ca Other Ca CRC 49 Other Ca 53 CRC 51 CRC 53 CRC 53 CRC 40 CRC 51 Polyps Other ca 48Other Ca 50 CRC 53 CRC 50 CRC Hysterectomy Gastric caPancreatic ca Polyps 48 Crohn's Crohnts Based on the pedigree, would you classify her risk for inherited cancer syndrome as low, moderate or high List 3 aspects of the family and medical history that support your conclusion. What is the most probable inherited colon cancer syndrome diagnosis for this family?Explanation / Answer
Based on the above pedigree , chances of Sally getting affected are moderate. This is because, her farther suffers from polyps which is due to Autosomal dominant condition and her mother is normal. Now this Autosomal dominant is a heterzygous condition because if it would have been homozygous, it would have been lethal. Now considering her father's Gene as Ll and moter's as l l , her possibilities are L l and l l. Thus it makes her moderately suspicious to risk conditions.
Three aspects are -
1. Two of her father's siblings are dead. This refers homozygous dominant condition to be lethal.
2. Her grandparents were both affected. This directly suggests that lethality can occur. Suggestion it a heterozygous Autosomal dominant condition.
3. If it would have been a x-linked recessive disorder, than in the first flow of chart, the daughter would not have been affected. That is her great grandparents sister wouldn't have been affected.
The most probable syndrome appear to be Lynch syndrome.
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