Cancer Guidelines and Risk Models Flashcards

1
Q

NCCN BRCA testing guidelines

A
  • Diagnosed with breast cancer 45 or younger
  • Diagnosed with breast cancer 50 or younger with one of the following:
    • An additional breast primary
    • 1 or more close relative with breast cancer at any age
    • 1 or more close relative with pancreatic cancer
    • 1 or more close relative with prostate cancer
  • Diagnosed with TNBC at 60 or younger
  • Diagnosed with breast cancer at any age with one of the following
    • 1 or more close relative with breast cancer diagnosed at 50 or younger
    • 2 or more close relatives with breast cancer at any age
    • 1 or more close relatives with ovarian cancer
    • 2 or more close relatives with pancreatic or prostate cancer
    • A close male relative with breast cancer
    • AJ ancestry
  • Personal history of ovarian cancer
  • Personal history of male breast cancer
  • First or second degree relative meeting any of the above criteria
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2
Q

Amsterdam I Criteria

A
  • At least 3 individuals with colon cancer on the same side of the family
    • At least 1 must be a first degree relative of the other two
  • At least 2 generations affected with colon cancer on the same side of the family
  • At least 1 diagnoses of colon cancer at or before age 40
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3
Q

Amsterdam II Criteria

A
  • At least 3 individuals affected with a Lynch-related cancer (CRC, endometrial, small bowel, ureter, renal pelvis)
    • One must be a first-degree relative of the other two
  • At least 2 generations affected with Lynch-related cancer
  • At least 1 individual with a Lynch-related cancer diagnosis at or before age 40
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4
Q

Bethesda Criteria

A
  • Criteria for testing at tumor for MSI
    • CRC in a patient under 50 years old
    • Presence of synchronous or metachronous CRC or Lynch-related tumors
    • Previous CRC tumor with MSI-H histology in a patient under age 60
    • CRC diagnosed in one or more first-degree relatives with a Lynch-related cancer, with at least one of the cancers being diagnosed before age 50
    • CRC diagnosed in two or more first or second-degree relatives with a Lynch-related cancer regardless of age of diagnosis
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5
Q

NCCN Lynch testing guidelines

A
  • Known familial mutation in an MMR gene
  • Meets revised Bethesda guidelines
  • Meets Amsterdam II criteria
  • Diagnosis of endometrial cancer at or before age 50
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6
Q

Gail Model

A
  • Calculates risk for developing breast cancer
  • For unaffected probands only
  • Incorporates biopsy history, age at menarche, and age at first livebirth
  • Only uses first degree maternal relatives
  • Doesn’t include age of onset
  • Doesn’t include family history of ovarian cancer
  • Can help determine tamoxifen eligbility
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7
Q

Claus Model

A
  • Used to calculate risk of developing breast cancer
  • For unaffected probands only
  • Uses maternal and paternal first and second degree relatives with breast and ovarian cancer
  • Uses current age and age of onset
  • Only uses two affected family members
  • Doesn’t use male breast cancer
  • Can help determine annual MRI eligibility
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8
Q

Tyrer-Cuzik (IBIS) Model

A
  • Calculates breast cancer risk and risk of having a mutation
  • Uses weight, height, biopsy history, age at menarche, age at first livebirth, mutation status of BRCA and lower penetrance genes
  • Uses first and second degree relatives with breast or ovarian cancer
  • Uses cousins with breast cancer
  • Proband must be female
  • Doesn’t incorporate other BRCA-related cancers (prostate, pancreatic, male breast)
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9
Q

Couch II/Penn II Model

A
  • Used to calculate the probabilty of having a BRCA mutation
  • Uses number of women with breast cancer under age 50
  • Multiple breast or ovarian primaries
  • Ovarian and fallopian tube cancers
  • Male breast, prostate, and pancreatic cancers
  • Incorporates AJ ancestry
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10
Q

BRCAPro

A
  • Calculates breast cancer risk and risk of having a mutation
  • Incorporates unilateral and bilateral invasive breast cancers in first and second degree relatives, hormone receptor status of proband, ovarian cancer in first and second degree relatives
  • Incorporates age of onset and age of all unaffected relatives
  • Incorporates AJ ancestry, mutation status, and BSO history
  • Doesn’t incorporate prostate or pancreatic cancer
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11
Q

BOADICEA model

A
  • Calculates breast cancer and mutation risk
  • Allows for entry of all family members
  • Incorporates breast, ovarian, prostate, and pancreatic cancers
  • Requires year of birth for all family members
  • Time consuming
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12
Q

Population breast cancer screening guidelines

A
  • CBEs every 3 years beginning at age 20
  • CBE yearly beginning at age 40
  • Mammograms yearly beginning at age 40
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13
Q

BRCA-positive breast cancer screening/prevention guidelines

A
  • SBEs beginning at age 18
  • CBEs every 6-12 months beginning at age 25
  • Annual breast MRI beginning at age 25
  • Annual mammogram and MRI beginning at age 30
  • Tamoxifen can lower risk for contralateral breast cancer by up to 50% (not effective for TNBC, so less effective for BRCA1 carriers)
  • Prophylactic mastectomy can reduce risk by up to 90%
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14
Q

BRCA-positive ovarian cancer screening/prevention guidelines

A
  • Transvaginal U/S and CA-125 levels every 6 months at age 30 or 5-10 years before the earliest diagnosis in the family
    • Very limited ability for screening, rarely detects early stage cancer, no longer recommended by the NCCN
  • Oral contraceptive use for 5 or more years can reduce risk for ovarian cancer by up to 60%
  • Prophylactic BSO can reduce risk by up to 96% - recommended between the ages of 35-40 after childbearing is complete
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15
Q

Population colorectal cancer screening guidelines

A
  • Colonoscopy beginning at age 50 and every 10 years after
    • If adenomatous polyps are found, follow high-risk guidelines
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16
Q

High-risk colorectal cancer screening guidelines

A
  • Repeat colonoscopy in 3 years after first adenoma was found
    • If negative, repeat in 5 years
  • If polypectomy of large sessile polyps is performed, repeat colonoscopy in 2-6 months
  • If more than 10 adenomas are seen, consider evaluation for polyposis
17
Q

Lynch screening guidelines

A
  • Colonoscopy every 1-2 years beginning at age 20-25 (30 for individuals with MSH6 or PMS2 mutations)
    • Can reduce risk for CRC by up to 63%
  • Long-term aspirin use can reduce CRC risk
  • Transvaginal ultrasound and/or endometrial biopsy yearly beginning at age 30-35
  • Urinalysis with cytology yearly beginning at age 25-35
18
Q

FAP screening guidelines

A
  • Flexible sigmoidoscopy annually beginning at age 10-15
  • Proctocolectomy or colectomy to treat
    • If rectum is left intact, rectal screening every 6-12 months
    • If ileal-pouch anal anastomosis or ileostomy is performed, evaluation of the ileal pouch every 1-3 years
  • Upper endoscopy for pancreatic cancer and fundic gland polyp screening beginnning at age 20-25
  • Annual thyroid exam beginning in teens
  • Annual physical examination for signs of CNS tumors and abdominal palpation for presence of desmoid tumors and hepatoblastoma