Breast cancer genetics Flashcards
What are features suggestive of a hereditary breast cancer?
Unusually early onset of a cancer (depending on the type of cancer)
Multiple primaries
Clustering of same type of cancer or related cancers in close relatives
Cancers in multiple generations in a family
Tumour histology/pathology
Different types of cancer or unusual cancers seen in rare cancer syndromes
Founder mutations
What genes if affected are most likely to lead to cause of breast cancer?
BRCA1/2 genes most common
Mainly associated with an increased risk of breast, ovarian, prostate cancer.
What is the Manchester scoring system?
The Manchester Scoring System (MSS) is a model system for predicting the chance of finding a BRCA1 or BRCA2 mutation in an individual affected by cancer.
A score of 15 or higher corresponds to a ≥ 10% chance of a pathogenic BRCA1/2 mutation.
Advantages of breast cancer panel testing?
Increased yield of genetic diagnoses
Clinical overlap of syndromes
Limitations of family history
Identification of people that need increased screening
Disadvantages of breast cancer panel testing?
Difficult to establish the screening in moderate penetrance carriers
Increased number of VUS (variants of uncertain significance)
Understanding multiple positive findings
Incidental findings
Risk management for moderate risk breast cancer?
Annual mammograms from 40 till 50 (can be 35)
National Breast Screening Programme from 50 till 70. Can continue at own request
Education and encouragement to be breast aware
Risk management for high risk breast cancer?
Biennial (every 2 years) mammograms from *35 – 39
Annual mammograms from 40 – 59
18 monthly mammograms from 60 – 70
Discussion of prophylactic chemoprevention
- Screening starts at 35 or 5 years earlier than the youngest age of onset in the family (but not before 30 years)
Risk management for very high risk breast, ovarian and prostate cancer?
Breast cancer
- Extra breast screening with annual mammograms from 30 till 70 and annual breast MRI from 30 till 50
- Double mastectomy with/without reconstruction
Ovarian cancer
- No effective screening at the moment
- Bilateral Salpingo-Oopherectomy (BSO) around the age of 40
- PROTECTOR study
Prostate cancer
- No routine screening at the moment
- GPs may agree to annual PSA and clinical examination
What is a vacuum assisted breast biopsy?
Vacuum‑assisted breast biopsy (VABB; also known as vacuum‑assisted core biopsy or VACB) combines needle biopsy with vacuum suction to collect multiple biopsy samples.
What is tomosynthesis and some of it’s advantages?
Tomosynthesis is an advanced type of mammography that uses 3-dimensional imaging to look for breast cancers.
Images taken at different angles in an arc
Reconstruction into multiple slices
- Removes overlap
- Shows margins better
What are some of the indications for tomosynthesis?
Assessment of mammographic abnormalities
Screening: may increase sensitivity in denser breasts (not v. dense)
Limited evidence in monitoring or follow-up
BRCA1 mutation features?
Poorly differentiated
Triple-negative
More rapid growth than sporadic cancer
Fibroadenoma-like appearance
