Week 3: BRCA screening Flashcards
At what age would a pt with breast cancer be referred for BRCA testing
Diagnosed <40yo
What is considered a significant Manchester score
17: send unaffected individual for BRCA testing
15: send pt with breast cancer for BRCA testing
Family history of which type of cancers are considered higher risk (refer pt to secondary care)
- Bilateral breast Ca
- Male breast Ca
- Ovarian Ca
- Triple negative breast Ca <40yo
- Sarcoma <45yo
- Glioma
- Childhood adrenal cortical carcinoma
- Complicated patterns of multiple cancers at a young age
- Paternal hx of breast cancer
Between BRCA1/2, which is associated with higher risk of breast and ovarian cancer
BRCA1
Between BRCA1/2, which is associated with higher risk of breast and prostate cancer in men
BRCA2
Most common type of breast cancer associated with BRCA1
Triple negative basal type
Most common type of ovarian cancer associated with BRCA1/2
Epithelial serous papillary carcinoma
Patients with breast cancer must fulfil at least 1 of 7 criteria to undergo BRCA testing.
What are the 7 criteria?
- Diagnosed <40yo
- Bilateral breast cancer (both diagnosed <60yo)
- Triple negative breast cancer
- Also have ovarian cancer
- Male
- Diagnosed <50yo + relative with breast cancer diagnosed <50yo
- Family hx of cancer and Manchester score 15 or more
How often is routine breast cancer screening for women 50-70yo
Every 3 years
How often is routine breast cancer screening for men with BRCA1/2 mutation
NO screening for men even if they carry gene
How often is routine breast cancer screening for women with TP53 mutation
Annual MRI
How often is routine breast cancer screening for women with BRCA1/2 mutation
Annual
30-49yo: MRI + mammogram
50-59yo: mammogram
How often is breast cancer screening for women with hx of breast cancer, but unknown genetics
Annual
30-49yo: MRI
50-69yo: mammogram
From what age does every woman (regardless of risk) get a mammogram as part of the NHS screening programme
60yo
If a woman’s genetic test result comes back as “variant of uncertain significance”, how should she be managed
Consider doing a segregation study (testing relatives for same gene mutation)