-
What are the 4 major molecular subtypes of breast cancer?
- Luminal A: (ER+, PR+, HER2-) mostly post menopausal AA women and all non AA woman
- Luminal B: (ER+, PR+, HER2+)
- HER2 (ERBB2) amplified: ER-, PR-, HER2+
- Basal or triple negative: ER-, PR-, HER2- (pre-menopausal AA women)
-
If a patient is ER+ what med should we give her/him?
tamoxifen or aromatase inhibitor
-
If a patient is positive for HER2 positive?
Trastuzumab
-
Molecular portraits of the molecular subtypes of cancer?
-
Oncotype DX
- Expression of 21 genes in tumor tissue
- Predicts benefit of chemotherapy via prediction of risk of recurrence
- $3820
- Changes plans in 44-57% of those tested (avoidance of chemo)
-
When a patient is on tamoxifen, why is it so important to get a good medication history?
prozac and paxil can inhibit tamoxifen
-
What is tamoxifen?
it is a pro drug that is converted to endoxifen by CYP2D6.
-
What can you keep into account when a patient is on tamoxifen?
asians and AA can have reduced functions while epthiopians can be ultra-rapid tamoxifen
-
What is the function of the BRCA genes?
- part of the ds-DNA homologous repair system
- works with damage recognition component and ionizing radiation repair
-
If there is something wrong with ATM/ATR then
we have ataxia-telangiectasia (auto-recessive)
-
If there is something wrong with FANCA then
we can have falconi anemia (auto-recessive)
-
What are the features that indicates BRCA mutations?
- multiple cases of early onset breast cancer
- ovarian cancer
- breast and ovarian cancer in the same woman
- bilateral breast cancer
- ashkenazi jewish heritage
- male breast cancer
-
Which is the most common type of BRCA in breast cancer?
BRCA1 it has a higher rate of bc, oc, and 2nd breast cancer. but BRCA2 has an increased risk of prostate cancer
-
What are the most common type of cancer in BRCA 1 breast tumor?
80% triple negative/basal subtype
-
What are the common types of ovarian type cancers?
- Predominantly papillary serous adenocarcinoma (epithelial)
- Primary source is distal fallopian tube
- Fallopian tube, ovarian, primary peritoneal
-
Li-Faumeni syndrome
- TP53
- breast, bone, brain blood
-
-
Herediatry diffuse gastric cancer
CDH1
-
What are other genetic conditions other than BRCA 1 and 2 that are linked with increased breast cancer risk?
- Li-Fraumeni syndrome (TP53) – 65-75%
- Peutz-Jeghers (STK11) – 50%
- Hereditary diffuse gastric cancer (CDH1) – 50%
- PALB2-associated cancers – 40%
- PTEN hamartoma syndrome (Cowden) – 25-35%
- Ataxia-telangiectasia heterozygotes (ATM) – 30-40%
- Other homologous repair genes – BARD1, BRIP1, RAD51C, NBN (all 20-30%)
-
Li-Fraumeni syndrome
pre-menopausal breast cancer
-
What is the function of genetic counseling?
- Attempts to assist patient in understanding: Medical facts, Mode of inheritance, Risk of getting breast and/or ovarian cancer (again), Implications for daily life
- Options for dealing with the risk: Breast surveillance, DNA testing, Prophylactic mastectomy and/or oophorectomy, Chemoprevention (tamoxifen, aromatase inhibitor, OCP).
-
What is the Gail model not good for?
it is not useful for the determination of hereditary cancer risk
-
What is the clause tables good for?
statistical model to calculate cumulative beast cancer risk based in family history
-
Tyrer Cusik model
- computer based model that are for unaffected women to underdetermine risk if breast cancer and likelihood of hereditary risk
- combines gail model, family history, and bayesian analysis
-
Who do we do genetic testing on?
- person affected with cancer that re before 45 or older than 60 if triple negative
- person w/o cancer but with family history meeting criteria
- any ashkenazi or iscelandic persons
- person with a known mutation
|
|