Prevalence
A mutation on which BRCA gene (BRCA1 or BRCA2) increases the risk of male breast cancer to 8%?
BRCA2
What protein plays a central role in homologous recombination, specifically the strand invasion step?
RAD51
What is the inheritance pattern of breast and ovarian cancer?
Autosomal Dominant
What type of treatment intervention did Jean-Paul choose to do?
bilateral mastectomy
T or F: BRCA1/2 are the only genes that can cause an inherited risk for breast or ovarian cancer.
False, there are other genes that are not as common but can still cause hereditary breast or ovarian cancer.
What stage of homologous recombination does BRCA1 play a role in?
early cellular response
After breast-conserving efforts have been made, a 12-24% risk over 10 years exists for which type of recurrence?
Ipsilateral
Name two medications that belong to the SERMs class, which are typically used to treat breast/ovarian cancer.
tamoxifen and raloxifene
Aside from the French Canadian population, which other groups are the founder mutations for BRCA1/2 found?
Ashkenazi Jewish populations and Icelandic populations
Name at least two functions of the BRCA1 gene
(1) Recruitment to DNA damage sites (2) DNA end resection (3) G2/M Checkpoint (4) S phase checkpoint (5) DNA repair during DNA replication
What does triple-negative breast cancer refer to?
1) absence of the estrogen receptor
2) absence of the progesterone receptor and
3) deficient HER2 protein (human epidermal growth factor receptor)
List three reasons as to why Jean-Paul has an increased risk of BRCA1/2 mutation?
- Diagnosed with breast cancer at 45 yrs old
- French Canadian descent