Hereditary Breast Cancer Flashcards Preview

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Flashcards in Hereditary Breast Cancer Deck (15)
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1
Q

What is the prevalence and average age of breast carcinoma?

A
  • 1 in 8 women
  • Average age: mid 50s
2
Q

What are the 3 major influences of breast carcinoma?

A

3 major influences are:

  • genetic changes:
    • * mutations affecting proto-oncogenes (HER2/Neu)
    • * tumor suppressor genes (BRCA1 and BRCA2)
  • hormonal influences
  • environmental variables
3
Q

What are the risk factors for **sporadic **breast carcinoma?

A
  • Exposure to hormones (major risk)
  • Environmental Variables
  • Occur in postmenopausal women
  • Overexpress estrogen receptor
4
Q

What are treatments options for a high risk breast cancer patient?

A
  • Bilateral prophylactic mastectomy
  • Chemoprevention (Tamoxifen)
    • Side effects
      • Venous thromboembolism
      • Endometrial cancer
      • Cataracts
5
Q

Most breast cancers are ______

A

Most breast cancers are sporadic

6
Q

**Sporadic Breast Cancer: **

  • Age predilection:
  • Familial incidence:
A
  • Usually diagnosed after menopause
  • Low incidence of cancer in the family
7
Q

What are the risk factors for sporadic breast cancer?

A
  • Age
    • Risk increases with age
    • Median age at diagnosis is 61 years
  • Hormonal factors
    • Early menarche/Late menopause
    • Nulliparity
    • Hormone replacement therapy
  • Lifestyle
    • Alcohol consumption
    • Physical inactivity
    • Obesity
8
Q

What is the cause of Familial Breast Cancer?

A

MULTIFACTORIAL

  • Multiple low-penetrance genes may play a role and interact with environmental triggers
  • Multiple family members with cancer (“clustering”)
9
Q
  • What is the main cause of hereditary breast cancer?
  • How is the pedigree affected?
  • What is the age predilection?
A
  • Main cause is a single germline gene mutation in the family
  • Multiple generations often affected
  • Typically young age of breast cancer onset (<50 yrs)
10
Q

What are the examples of hereditary breast cancers presented in class?

A
  • Hereditary Breast and Ovarian Cancer (HBOC)
    • Ashkenazi Jewish
    • Triple negative tumors (BRCA1)
  • Cowden syndrome (PTEN gene)
    • Breast, thyroid, uterine
  • Li Fraumeni syndrome (TP53 gene)
    • Breast, brain, leukemia, sarcoma
11
Q
  • When is first mutation present in a patient with hereditary breast cancer?
  • What is the role of oncogenes and tumor suppresor genes?
A
  • First mutation present in gene at conception and in germline
  • Oncogenes
    • Accelerate cell division
    • Cancer arises when stuck in “on” mode
  • Tumor suppressor genes
    • DNA damage response
    • Cell’s “brakes” for tumor growth
    • Cancer arises when both “brakes” fail
12
Q

Does having a gene mutation garuntee breast cancer?

A

No, it just makes it more likely

13
Q

What is the 3-2-1 rule for hereditary breast cancer?

A

Conduct further evaluation if:

  • 3 family members with breast cancer regardless of age
  • 2 family members with breast cancer with one being diagnosed < 50 years of age
  • 1 family member with ovarian cancer
14
Q

Difference in inheritance between:

  • Germline
  • Somatic
A
  • Germline
    • hereditary
    • autosomal dominant
  • Somatic
    • acquired
    • “Two hit”
15
Q

Hereditary Breast and Ovarian Cancer (HBOC) Syndrome:

  • Mutations
  • Inheritance
  • Associated cancers
A
  • BRCA1 & BRCA2gene mutations
  • Autosomal dominant inheritance
  • Breast cancer
    • 45-85% lifetime risk
    • Risk for a 2nd primary breast cancer
  • Ovarian cancer
    • 15-45% lifetime risk
  • Other increased cancer risk
    • Prostate, male breast, pancreatic, melanoma, ocular melanoma