Hereditary Breast and Ovarian Cancer Flashcards
What is HBOC?
A genetic disorder that increases the likelihood of developing breast, ovarian, and other cancers
HBOC is a result of mutations in ______ and _______
BRCA1 - Breast Cancer gene 1
BRVA2 - Breast Cancer gene 2
What are the signs and symptoms of breast cancer?
-thickening or bumpy areas on breast or armpit
- nipple discharge or bleeding from the nipple
-change in position of nipple
-moist or red areas on the breast
-changes in the look or feel of the surrounding skin
-lump on breast
-changes in the outline or shape of the breast
-a rash on or around the breast
what are the signs & symptoms of ovarian cancer?
-abdonminal bloating or swelling
-a frequent need to urinate
-quickly feeling full when eating
-weight loss
-discomfort in pelvic area
-fatigue
-back pain
-changes in bowel habits (constipation)
___% of women with breast cancer and __% of women with ovarian cancer occur as a result of _________
10
3
mutated BRCA genes
women with an altered BRCA1 gene have
-85% chance of developing breast cancer
-44% chance of developing ovarain cancer by age 70
who is more at risk: A woman with an altered BRCA1 or BRCA2 gene?
BRCA1 alterations have a higher rate of developing both types of cancer than BRCA2 alterations
which populations exhibit a higher likelihood of harboring genetic mutation?
-ashkenazi jews
-male breast cancer patients
-breast cancer patients younger than 30
How was BRCA1 first identified?
searching cancer-prone families for specific inherited gene alterations that were passed on through generations
when was BRCA identified?
BRCA1 - 1994
BRCA2 - 1995
what are BRCA genes general function
tumor suppressor genes that maintain genomic integrity during DNA repair of homologous recombination
what is the specific function of BRCA1
-DNA repair
-transcriptional activation
-cell cycle
-chromatin remodeling
what is the specific function of BRCA2
-transcriptional and cell cycle regulation
-DNA repair
-mitophagy
-replication fork stabilization
what is mitophagy
autophagy of damaged mitochondria
what is the relationship b/w sex hormones and BRCA
the genes are dependent on sex hormones - the spike during puberty can lead to high proliferation of mutations
what chromosomes are the BRCA genes located on
BRCA1 - chromosome 17
BRCA2 - chromosome 13
are BRCA mutations completely penetrant?
No. Not everyone with BRCA genes develops cancer
what is the BRCA inheritance pattern
autosomal dominant
Patients with only 1 mutated BRCA1/2 gene have a lower chance of developing cancer (T/F)
True due o the existence of a functioning BRCA allele. BUT, these patient may experience loss of heterozygosity later in life
BRCA is involved in what kind of DNA break
double strand
what are the 4 steps in cancer diagnosis
- physical examination
- diagnostic imaging
- surgical procedures
- analysis of growth
what entails physical examinations
-mammograms
-abdominal and prostate exams
what entails diagnostic imaging?
-abdominal ultrasound
-transvaginal ultrasound
-computed tomography (CT) scan
-position emission tomography (PET) scan
-magneti resonance imaging (MRI)
what entails surgical procedures
removal and biopsy of identified growth
what entails analysis of growth
circulating tumor cell (CTC) blood test to identify metastasis
How are BRCA mutations identified?
using a genetic sample, DNA extraction, PCR amplification, and microfluids-based electrophoresis to detect deletions
who performed the first radical mastectomy
william halsted in 1882
what was the first non-surgical solution to breast cancer
tamoxifen in 1978, dora richardson
what are the current surgical treatments?
prophylactic mastectomy - removal of one or both breast tissues
prophylatic oophorectomy - removal of ovaries and fallopian tubes
Poly ADP Ribose Polymerase (PARP) function
-transcription
-apoptosis
-DNA damage response
Many non-surgical cancer treatments work as
PARP inhibitors
Normal PARP1 function
PARP binds single strand break and recruits repair proteins
side effects of non-surgical treatments
-secondary cancers
-bone marrow issues
-anemia
-fatigue
-joint pain
-nausea
Carboplastin vs Cisplastin
little difference, Carboplastin is newer and slightly less toxic
Potential treatment combination for HBOC
Paclitaxel, Bevacizumab, PARP inhibitors, Gemcitabine
UN-scientific treatments
-Acupuncture
-Lymphatic massage
-Exercise
-Chiropractic care
-Nutrition
potential future medication
Dostarliamb: works in immune checkpoint inhibitors
