predisposition to cancer Flashcards
What is the most common cause of cancer
Somatic mutations
What are somatic mutations
Mutations in which a single cell gets hits of cancer disposing gene
What is a germline mutation
mutation to the gene during the development of a gamete so that in the next generation, the mutation will be found in the entire body of the person
What is an oncogene
A normal gene which undergoes a mutation, leading to accelerated cell division
What gene is affected in retinoblastoma
RB1
What is lynch syndrome (HNPCC)
A germline mutation in the mismatch repair genes
What is more common in lynch syndrome
Colorectal mainly, endometrial, urinary tract, ovarian and gastric cancers
How is lynch syndrome (HNPCC~) different to other forms of hereditary predisposition to cancers
Early but variable age of colorectal cancer diagnosis - 45 years old
Tumour site is the proximal colon predominantly
What is lynch syndrome also known as
Hereditary non polyposis colon cancer
What does BRCA 1 AND 2 increase the risk of
Breast cancer
Ovarian cancer in females BRCA 1 mainly
prostate cancer in males BRCA 2 mainly
What signs would make you suspect a hereditary cancer syndrome
- Cancer in more than one close family member
- Early age of diagnosis
- Multiple primary tumours
- Bilateral or numerous rare cancers
- Characteristic tumour patterns of certain gene mutations such as BRCA 1 and ovary and breast cancer
- Evidence of autosomal dominant transmission
What is oophorectomy
removal of the ovaries as well as the fallopian tube
What is a mastectomy
Removal of most breast tissue
