Hereditary ovarian cancer Flashcards

1
Q

What is the lifetime risk of breast cancer?

  • BRCA1 carrier
  • BRCA2 carrier
A

We quote the range of breast cancer risks in BRCA1 carriers to age 70 to be between 55 and 70 percent, and between 45 and 70 percent in BRCA2 carriers.

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2
Q

What is the lifetime ovarian cancer risk?

  • BRCA1 carrier
  • BRCA2 carrier
A
  • 40 to 45 percent for BRCA1 carriers
  • 15 to 20 percent for BRCA2 carriers.
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3
Q

BRCA1 carrier vs BRCA2 carrier - breast cancer characteristics?

A
  • earlier onset (particularly before 50)
  • higher lifetime risk of breast cancer than BRCA2
  • BRCA1 carriers are more likely to develop a triple-negative breast cancer than BRCA2 carriers or those who are BRCA1/2 mutation negative
  • DCIS occurs at an earlier age in BRCA1/2 carriers than in noncarriers
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4
Q

Male breast cancer lifetime risk with

  • BRCA1
  • BRCA2
A
  • risk appears to be higher with BRCA2 vs BRCA1 mutations
  • In men with a BRCA2 vs BRCA1 vs no BRCA1/2 mutation, the lifetime risk of breast cancer is 7-8% vs 1% vs 0.1%
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5
Q

Risk of GYN malignancies with BRCA1/2

  • Fallopian tube cancer
  • Primary Peritoneal Cancer
  • Endometrial
A
  • Fallopian tube cancer
    • At least 50 percent of serous cancers diagnosed in BRCA1/2 carriers are of distal fallopian tubal origin
    • Lifetime risk is 0.6% vs 0.2% (general pop)
    • May be underestimated given HGSOC may originate from FT.
  • Primary peritoneal cancer
    • lifetime risk of 1.3 percent [prob underestimate]
  • Endometrial
    • uterine papillary serous 1-2% in some studies; overall very low and for BRCA1 (not BRCA2) carriers
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6
Q

BRCA1/2 mutations - risk in non-GYN and breast malignancies

  • List the other types of cancers
  • Give the associated risks
A
  • BRCA1/2 mutations have higher risk of the following non-GYN/breast cancers
    • Pancreas
    • Prostate
    • Colorectal
    • Biliary
    • Gastric
    • Melanoma
  • Associated risks
    • Pancreas [2 - 5x increased risk]
      • BRCA1 - 1%
      • BRCA2 - 5%
    • Prostate
      • BRCA1 - 3-4x increased risk (less defined) by age 65 ~ 9% risk
      • BRCA2 - 5-9x increased risk by age 65 ~ 33% risk
    • Colorectal - inconsistent data but BRCA1 suggests higher risk (possible 2x)
    • Melanoma - higher risk in cutaneous and uveal melanoma for BRCA2 (not BRCA1)
    • Increased risk in stomach and biliary for BRCA2 (not BRCA1)
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7
Q
A
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