Genetics in Cancer Flashcards
What is Li Feaumeni Syndrome?
Autosomal dominant
Germline mutations to p53 TSG
High incidence of malignancies, particularly sarcoma and leukaemia
Sarcoma under 45 years
First degree relative with any cancer below 45 and another family member with sarcoma at any age
What are associations with BRCA1 and BRCA2
BRCA1 (17q) BRCA2(13q)
Both TSGs although they are dominant
Breast cancer
Ovarian cancer
BRCA2 is liked to prostate cancer in men
What is lynch syndrome?
Autosomal dominant
Colorectal and endometrial cancer at any age
Ovarian, urinary tract, small bowel, stomach, hepatobiliary tract
HNPCC
Use Amsterdam criteria to diagnose:
3+ family members with colorectal cancer, one who is first degree (parent child sibling) relative of other 2
One or more colon cancer diagnosed under 50
Familial adenomatous polyposis excluded§
What is Gardners syndrome?
Autosomal familial adenomatous polyposis
Mutations in APC gene
Multiple colorectal adenomas which undergo malignant transformation
Colectomy to reduce risk of colorectal cancer
Most common causes of cancer?
Breast Lung Colorectal Prostate Bladder NHL Melanoma Stomach Oesophagus Pancreas
Most deaths: Lung Colorectal Breast Prostate Pancreas
