Hereditary Breast and Ovarian Cancer

Question 1

What is HBOC?

Answer 1

A genetic disorder that increases the likelihood of developing breast, ovarian, and other cancers

Question 2

HBOC is a result of mutations in ______ and _______

Answer 2

BRCA1 - Breast Cancer gene 1
BRVA2 - Breast Cancer gene 2

Question 3

What are the signs and symptoms of breast cancer?

Answer 3

-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

Question 4

what are the signs & symptoms of ovarian cancer?

Answer 4

-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)

Question 5

___% of women with breast cancer and __% of women with ovarian cancer occur as a result of _________

Answer 5

10
3
mutated BRCA genes

Question 6

women with an altered BRCA1 gene have

Answer 6

-85% chance of developing breast cancer
-44% chance of developing ovarain cancer by age 70

Question 7

who is more at risk: A woman with an altered BRCA1 or BRCA2 gene?

Answer 7

BRCA1 alterations have a higher rate of developing both types of cancer than BRCA2 alterations

Question 8

which populations exhibit a higher likelihood of harboring genetic mutation?

Answer 8

-ashkenazi jews
-male breast cancer patients
-breast cancer patients younger than 30

Question 9

How was BRCA1 first identified?

Answer 9

searching cancer-prone families for specific inherited gene alterations that were passed on through generations

Question 10

when was BRCA identified?

Answer 10

BRCA1 - 1994
BRCA2 - 1995

Question 11

what are BRCA genes general function

Answer 11

tumor suppressor genes that maintain genomic integrity during DNA repair of homologous recombination

Question 12

what is the specific function of BRCA1

Answer 12

-DNA repair
-transcriptional activation
-cell cycle
-chromatin remodeling

Question 13

what is the specific function of BRCA2

Answer 13

-transcriptional and cell cycle regulation
-DNA repair
-mitophagy
-replication fork stabilization

Question 14

what is mitophagy

Answer 14

autophagy of damaged mitochondria

Question 15

what is the relationship b/w sex hormones and BRCA

Answer 15

the genes are dependent on sex hormones - the spike during puberty can lead to high proliferation of mutations

Question 16

what chromosomes are the BRCA genes located on

Answer 16

BRCA1 - chromosome 17
BRCA2 - chromosome 13

Question 17

are BRCA mutations completely penetrant?

Answer 17

No. Not everyone with BRCA genes develops cancer

Question 18

what is the BRCA inheritance pattern

Answer 18

autosomal dominant

Question 19

Patients with only 1 mutated BRCA1/2 gene have a lower chance of developing cancer (T/F)

Answer 19

True due o the existence of a functioning BRCA allele. BUT, these patient may experience loss of heterozygosity later in life

Question 20

BRCA is involved in what kind of DNA break

Answer 20

double strand

Question 21

what are the 4 steps in cancer diagnosis

Answer 21

1. physical examination
2. diagnostic imaging
3. surgical procedures
4. analysis of growth

Question 22

what entails physical examinations

Answer 22

-mammograms
-abdominal and prostate exams

Question 23

what entails diagnostic imaging?

Answer 23

-abdominal ultrasound
-transvaginal ultrasound
-computed tomography (CT) scan
-position emission tomography (PET) scan
-magneti resonance imaging (MRI)

Question 24

what entails surgical procedures

Answer 24

removal and biopsy of identified growth

Question 25

what entails analysis of growth

Answer 25

circulating tumor cell (CTC) blood test to identify metastasis

Question 26

How are BRCA mutations identified?

Answer 26

using a genetic sample, DNA extraction, PCR amplification, and microfluids-based electrophoresis to detect deletions

Question 27

who performed the first radical mastectomy

Answer 27

william halsted in 1882

Question 28

what was the first non-surgical solution to breast cancer

Answer 28

tamoxifen in 1978, dora richardson

Question 29

what are the current surgical treatments?

Answer 29

prophylactic mastectomy - removal of one or both breast tissues
prophylatic oophorectomy - removal of ovaries and fallopian tubes

Question 30

Poly ADP Ribose Polymerase (PARP) function

Answer 30

-transcription
-apoptosis
-DNA damage response

Question 31

Many non-surgical cancer treatments work as

Answer 31

PARP inhibitors

Question 32

Normal PARP1 function

Answer 32

PARP binds single strand break and recruits repair proteins

Question 34

side effects of non-surgical treatments

Answer 34

-secondary cancers
-bone marrow issues
-anemia
-fatigue
-joint pain
-nausea

Question 35

Carboplastin vs Cisplastin

Answer 35

little difference, Carboplastin is newer and slightly less toxic

Question 36

Potential treatment combination for HBOC

Answer 36

Paclitaxel, Bevacizumab, PARP inhibitors, Gemcitabine

Question 37

UN-scientific treatments

Answer 37

-Acupuncture
-Lymphatic massage
-Exercise
-Chiropractic care
-Nutrition

Question 38

potential future medication

Answer 38

Dostarliamb: works in immune checkpoint inhibitors