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Cancer genetics > Week 9: Breast cancer > Flashcards

Week 9: Breast cancer Flashcards

1
Q

Testing criteria/indications for testing for breast cancer per NCCN

A

-Dx <50
-TNBC
-Multiple primaries
-Lobular breast cancer with personal or family hx off DGC
-Male breast ca
-AJ ancestry
-1+ close blood relative with any: dx <50, male breast ca, ovarian ca, pancreatic ca, prostate ca with metastatic or very high risk group
- >5% of BRCA1/2 PV based on probability models

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2
Q

HBOC genes, inheritance, incidence

A

-BRCA1 and 2, tumor suppressors
-Involved in dsDNA break repair
-AD
-~1/400 but ~1/40 AJ

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3
Q

What is a common therapy used for treating cancer in HBOC patients? What is the mechanism of this drug?

A

-PARP inhibitors
-Prevents ssDNA repair so when ss brakes become ds they can’t be repaired and lead to cell death

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4
Q

Lifetime cancer risks for BRCA1 mutation vs gen pop: breast, ovarian, pancreatic, prostate

A

-BREAST: ~65% vs 12.5% gen pop
-OVARIAN: 40-60% vs 1.3% gen pop
-PANCREATIC: 5% vs 1.5% gen pop
-PROSTATE: up to 26% vs 12% gen pop

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5
Q

Lifetime cancer risks for BRCA2 mutation vs gen pop: breast, ovarian, pancreatic, prostate

A

-BREAST: ~60% vs 12.5% gen pop
-OVARIAN: 15-30% vs 1.3% gen pop
-PANCREATIC: 5-10% vs 1.5% gen pop
-PROSTATE: ~20-60% vs 12% gen pop

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6
Q

Describe management for breast cancer BRCA + females

A

-25-29yrs: annual breast MRI
-30-75: annual mammogram and breast MRI
-Discuss RRM

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7
Q

Describe management for breast cancer for BRCA + males

A

-Breast self exam and training starting at 35yr
-Clinical breast exam annually starting 35yr
-Consider annual mammogram, especially for those with BRCA2+ whose lifetime risk is up to 7%

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8
Q

Compare the recommendations for RRSO for BRCA1 vs BRCA2

A

-BRCA1: Recommend RRSO between 35-40yr
-BRCA2: ovarian ca typically onset 8-10yrs later than BRCA1, so reasonable to delay RRSO until 40-45yr unless family hx warrants earlier

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9
Q

What is a salpingectomy and who is it recommended for?

A

-Just removing fallopian tubes for someone not ready to remove ovaries
-It reduces risk of ovarian ca in general population and is an option for premenopausal patients with hereditary ca risk who are not ready for oophorectomy

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10
Q

What is the screening recommendation for people with PV in pancreatic susceptibility genes ATM, BRCA1/2, MLH1, MSH2, MSH6, EPCAM, PALB2, TP53?

A

-Consider pancreatic screening beginning at 50yr (or 10 yr prior to earliest exocrine pancreatic dx)

-Currently does (DOES???)not recommend pancreatic ca screening for genes other than STK11 and CDKN2A in absence of close family hx

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11
Q

If someone is heterozygous for both BRCA1 and BRCA2, would we compound their risk?

A

No, we quote the highest risk—they are NOT additive

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12
Q

Li Fraumeni gene, incidence, inheritance

A

-TP53
-AD
- ~1/5000-1/20000
- 7-20% de novo
-Highly penetrant!!

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13
Q

Approximately what % of males and what % of females with LFS will develop a first primary cancer by age 60?

A

Males: >70%
Females: >90%

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14
Q

What are the core cancers for LFS?

A

-Soft tissue sarcoma
-Osteosarcoma
-Breast cancer (early onset!)
-Brain and CNS
-ACC
-Acute leukemia

High risk (40-49%) to develop a second cancer!

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15
Q

Cowden syndrome gene, primary cancer type and de novo rate

A

PTEN
CRC
10-44% de novo

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16
Q

Compare the lifetime cancer risks for those with cowden syndrome to gen pop for breast, endometrial, thyroid, and kidney cancer

A

-BREAST: 40-60% vs 12.5% gen pop
-ENDO: 25-30% vs 3% gen pop
-THYROID (Follicular!!): 35% vs 1% gen pop
-KIDNEY: 30-35% vs 2% gen pop

~6% lifetime risk of melanoma too!

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17
Q

What non-cancerous features are big red flags/key features for Cowden syndrome?

A

ASD
Macrocephaly
Mucocutaneous lesions
Penile freckling

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18
Q

Screening recommendations for the following cancer for Cowden syndrome: breast, CRC, endo, kidney, neurologic, thyroid

A

-Breast: annual mammogram and breast MRI starting at 30 or 10 years prior, discuss RRM
-CRC: colonoscopy starting at 35yr unless symptomatic
-Endo: consider screening at 36yr
-Kidney: consider renal ultrasound at 40yr then repeat 1-2yrs
-Neurologic: consider psychomotor assessment in children at dx and brain MRI if symptoms childhood testing!
-Thyroid: annual thyroid US starting at 7yr childhood testing!

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19
Q

HDGC gene, inheritance, primary cancer risks

A

CHD1 and CTNNA1
AD
Lobular breast ca and gastric cancer (signet ring cell)

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20
Q

Cleft lip/palate is associated with what cancer syndrome?

A

HDGC

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21
Q

Approximate cancer risks and management for breast and gastric ca for HDGC?

A

Lobular breast ca: 41-60%
-Management: annual mammograms and breast MRI starting at 30, consider RRM

Gastric ca: 67-70% for men and 56-83% for women
-Management: prophylactic total gastrectomy between 18-40yr

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22
Q

Is PJS appropriate for childhood screening/testing?

A

Yes!
-Colon stomach: endoscopy and colonoscopy starting at 8-10yr
-Small intestine: risk for intussusception, endoscopy starting at 8-10yr
-Ovary: risk for sex cord tumors, begin screening at ~8yr
-Testes: sertoli cell tumors, begin screening ~10yr

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23
Q

For those with PALB2 PV what is the absolute risk for breast cancer?

A

41-60%

Recommend to strat mammograms and MRI at 30yr

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24
Q

For individuals with CHEK2 PV what is the absolute risk for breast cancer?

A

20-40%

Annual mammogram at 40yr and consider breast MRI starting at 30-35yr

**Management should be based on best estimates of cancer risk for specific PV

25
Compare breast parenchyma vs breast stroma
-Parenchyma: lobules produce milk, ducts that open to nipple, areola -Stroma: envelopes the breast parenchyma and includes adipose tissue, connective, nerves, vessels
26
The majority of breast lymphatics drain towards what?
The axilla (levels I, II, III) Most relevant for breast ca Ca cells spread to other lymph node locations are likely to be agressive
27
Generally, how can a cancerous vs benign palpable mass be described?
Cancerous: irregular, hard, immobile Benign: smooth, mobile, soft
28
Pathologic nipple discharge could be described how?
-One breast involved -Spontaneous -On milk duct involved -Bloody or clear in color
29
Info about nipple retraction
Pathologic: -New onset -Often associated with palpable mass
30
Often rash of the nipple is a benign skin problem, what is the name of a disease that presents as a rash and is an early form of cancer?
Paget's disease Itchy scaly nipple
31
What is the goal of breast ca screening with mammogram?
Screen women who do not have symptoms to detect breast ca when it is small and curable
32
Name reasons women would be considered high risk for breast ca
-Prior hx -Lifetime risk >20% based on family hx or personal hx of atypical cells -5 yr risk of invasive breast ca >1.7% in women 35yr+ in Gail model -Prior thoracic radiation between ages 10-30yr -Family hx
33
What would high risk screening for breast cancer entail
-Mammograms starting at younger age -Adding addtl breast imaging like MRI or whole breast US
34
What are the two primary methods for breast cancer risk reduction
1. Chemoprevention: tamoxifen 2. Prophylactic mastectomies: women with PVs
35
Name the four common sites of metastasis for breast ca
1. Bones 2. Liver 3. Brain 4. Lungs
36
What is a sentinel lymph node biopsy?
-Procedure for clinically negative lymph nodes -Inject radiotracer and blue dye to mark 1-4 lymph nodes for excision in OR -This stages the axilla to help determine treatment
37
What is an axillary lymph node dissection
-For biopsy proven positive lymph nodes in some cases -Removing all of the lymph nodes from the level I and II of axilla -Larger surgery -Increased risk for lymphedema
38
Name the type(s) of breast cancer associated with Non-invasive and invasive subtypes
-Noninvasive: ductal carcinoma in situ -Invasive: invasive ductal carcinoma, invasive labular carcinoma
39
T/F lobular carcinoma in situ (LCIS) despite its name is not considered a non-invasive cancer
True! It is grouped with other atypical cells that put patients at an increased risk of developing breast ca (>20% lifetime risk)
40
Receptor status determines the need for what? What are the three different types of receptors relevant to breast cancer?
ER, PR, HER2 Receptor status determines the need for chemotherapy and anti-estrogen therapy
41
Define neoadjuvant vs adjuvant chemo
Neoadjuvant: chemo delivered first -TNBC -HER2 amplified -Locally advanced or any receptor type Adjuvant: chemo delivered after surgery -ER positive with high recurrence risk -Very small tumors of any receptor type in which need more info to determine chemo regimen -Residual disease after neoadjuvant therapy
42
What patients is radiation therapy appropriate for?
Patients who had a lumpectomy, certain patients who had a mastectomy Palliative radiation also delivered to met. ca site for symptom relief
43
Patients with a BRCA PV have up to ___% chance for developing a second primary cancer after first cancer is diagnosed and treated?
30% Vs gen pop 1-2% chance of developing a new primary Highlights importance of bilateral prophylactic mastectomy in PV BRCA even if undergoing treatment for ca
44
What is the gold standard to make breast ca diagnosis
Core needle biopsy!
45
What is the breast ca absolute risk and management recommendation for ATM mutations
20-30% -Annual mammogram start at 40 and consider breast MRI starting at 30-35yr -Insufficient evidence for RRM
46
Triple negative breast cancers associated with mutations in what genes?
BRCA1 and BRCA2
47
What is the absolute risk for breast cancer for variant in CHEK2
20-40%
48
What is the absolute risk for breast cancer for variant in PALB2
41-60%
49
What is the absolute risk for breast cancer for variant in PTEN
40-60%
50
RAD51C and RAD51D have absolute risk of breast ca between 17-30%. Is evidence strong enough to suggest RRSO for these patients?
Yes
51
Mutations in what gene are associated with triple positive breast cancers
TP53 Absolute risk for breast ca >60%
52
Name the 321 hereditary breast cancer clues
3 or more individuals with cancer (same or associated) 2 or more primaries in the same person (including bilateral breast cancer) 1 individual with less common cancer (male BC, TNBC, <50, ovarian/pancreas/met prostate)
53
What are some reasons to consider calculating the probability of a gene mutation?
-Guidelines don't capture all their family members -Doesn't quite meet guidelines or meets "consider testing" guidelines -For risk management of a pt with strong family hx who declines testing -Reassurance of low likelihood of gene mutation
54
The Penn II risk model is best for what?
Best for strong family hx, gives both individual and family estimates, not great for single relative affected Only risk of BRCA1 and 2
55
When is it appropriate to use the GAIL model?
To assess 5yr breast ca risk in women age 35-74 to determine if meet guidelines for chemoprevention Only BRCA1/2 Not great for assessing paternal breast ca or 2nd degree relatives
56
When is it appropriate to use the Tyrer-Cuzick (IBIS) model?
To assess breast ca risk for MRI screening quick and easily, 10yr and lifetime risks
57
When to use CanRisk model
Personal hx cancer and when other tools don't capture all family members or risk factors (txing results, pathology, children bearing, etc). Calculates both cancer risks and likelihood of gene mutation CBC,breast and ovarian in 5 and 10yr, other mut. likelihod in 8 other genes (BRCA2/1, PBALB2, CHEK2, BARD1, RAD51D/C, BRIP1, etc)
58
When to use BRCA Pro
-Likelihood of multiple hereditary syndromes at once -Risk of several cancers at once

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