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Hereditary Cancer Syndromes Flashcards

1
Q

HBOC-related cancers

A
  1. Breast (higher in BRCA1)
  2. Ovarian (higher in BRCA1)
  3. Pancreatic (higher in BRCA2)
  4. Prostate (BRCA2)
  5. Melanoma (BRCA2)
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2
Q

HBOC Risk Models

A
  1. Gail - breast cancer risk only - excludes paternal family hx
  2. Claus - breast cancer risk only - unaffected probands only
  3. Couch/Penn II - BRCA mutation risk only
  4. Myriad tables - BRCA mutation risk only
  5. BRCApro - breast cancer and BRCA mutation risk
  6. Tyrer-Cuzick (IBIS) - Breast cancer and BRCA mutation risk
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3
Q

HBOC-related genes

A
  • Primary
    • BRCA1, BRCA2
  • Breast cancer risk genes
    • PTEN, TP53, CHEK2, CDH1, ATM, BRIP1, PALB2, NBN
  • Ovarian cancer risk genes
    • MLH1, MSH2, MSH6, PMS2
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4
Q

PTEN-associated cancers

A
  1. Breast
  2. Thyroid - follicular
  3. Colon
  4. Uterine
  5. Kidney
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5
Q

Other features of PTEN

A
  • Hamartomatous polyps
  • Skin lesions - trichilemmomas, lipomas, acral keratoses
  • Overgrowth - macrocephaly
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6
Q

Cowden Syndrome

A
  • PTEN-associated syndrome
  • Autism
  • Macrocephaly
  • Skin lesions - acral keratoses, lipomas, trichilemmomas
  • Hamartomatous GI polyps
  • Thyroid nodules
  • PTEN-associated cancer risks
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7
Q

Bannayan-Riley-Ruvalcaba Syndrome

A
  • Childhood onset
  • Autism
  • Developmental delay
  • Macrocephaly
  • Penile skin macules
  • Goiter
  • Hyperextensibility
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8
Q

Lhermitte-Duclos Disease

A
  • PTEN-associated
  • Dysplastic gangliocytoma of the cerebellum (benign)
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9
Q

CDH1 - Associated Cancers

A
  1. Diffuse gastric
  2. Lobular breast
  3. Colon
  4. Prostate
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10
Q

CDH1-mutation management

A

Prophylactic gastrectomy is recommended for mutation-positive individuals with a family hx of gastric cancer

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11
Q

Li-Fraumeni - Associated cancers

A
  1. Breast
  2. Brain
  3. Leukemia
  4. Adrenocortical carcinoma
  5. Sarcoma
  6. Choroid plexus tumors
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12
Q

Chompret Criteria

A
  • Proband with LFS-associated cancer before age 46
    • And at least one first or second-degree relative with an LFS-associated tumor before age 56/multiple tumors

OR

  • Proband with multiple tumors, two of which are LFS-related, the first of which occurred before age 46
    • Excludes multiple breast tumors

OR

  • Patient with adrenocortical carcinoma or choroid plexus tumor regardless of family hx
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13
Q

HNPCC-related cancers

A
  1. Colon
  2. Ovarian
  3. Uterine
  4. Stomach
  5. Gallbladder
  6. Urinary bladder
  7. Brain
  8. Small bowel
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14
Q

Amsterdam Criteria

A
  • At least 3 individuals with HNPCC-related tumors
    • 1 should be a first degree relative of the others
  • At least 2 successive generations affected
  • At least 1 relative diagnosed before age 50
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15
Q

Bethesda Criteria

A
  • CRC diagnosed under age 50
  • Presence of synchronous or metachronous HNPCC-related tumors regardless of age of diagnosis
  • MSI-H histology CRC tumor under age 60
  • CRC diagnosed in one or more first degree relatives with an HNPCC-associated tumor
    • At least one of the tumors diagnosed before age 50
  • CRC diagnosed in two or more first or second-degree relatives regardless of age of diagnosis

This criteria is more sensitive than Amsterdam

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16
Q

HNPCC/Lynch genes

A

[MLH1, PMS2]

[MSH2, MSH6]

EPCAM

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17
Q

Familial Adenomatous Polyposis

A

100+ adenomas in the colorectum

Can onset as early as childhood

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18
Q

FAP-Associated cancers

A
  • Pancreatic
  • Adrenal gland
  • Thyroid
  • Colon
  • Hepatobiliary
  • Duodenum
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19
Q

Gardner Syndrome

A
  • FAP with additional findings
  • Osteomas
  • Additional desmoid tumors
  • CHRPE
    • Congenital hypertrophy of the retinal pigment epithelium
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20
Q

Attenuated FAP

A
  • 3-99 adenomas in the colorectum
  • Milder and may be later onset than regular FAP
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21
Q

FAP-related gene

A
  • APC
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22
Q

MUTYH-associated Polyposis

A
  • Autosomal Recessive
  • 20-100 adenomas in the colorectum
  • Can have symptoms associated with Gardner
    • Osteomas
    • CHRPE
23
Q

MAP-associated cancers

A
  • Colon
  • Ovarian
  • Bladder
  • Skin
  • Duodenal
24
Q

Juvenile Polyposis Syndrome

A
  • 3-5 juvenile polyps in the colorectum or GI tract
  • Caused by mutations in SMAD4 and BMPR1A
25
Q

JPS-associated cancers

A
  • Colon
  • Stomach
  • Pancreatic
  • Small bowel
26
Q

Hyperplastic Polyposis Syndrome

A
  • BRAF mutations associated with multiple, small left-sided polyps
  • KRAS mutations associated with large right-sided polyps
  • Increased risk for colon cancer
27
Q

Peutz-Jeghers Syndrome - Cancers

A
  • Pancreatic
  • Esophageal
  • Colon
  • Stomach
  • Breast
  • Ovarian
  • Lung
  • Small bowels
28
Q

Peutz-Jeghers Syndrome

A
  • STK11 gene
  • Hamartomatous polyposis of the GI tract
  • Mucocutaneous pigmentation of the lips
29
Q

Gorlin Syndrome/NBCCS

A
  • Nevoid basal-cell carcinoma syndrome
  • PITCH1, SUFU genes
  • Distinct facies
    • Frontal bossing, coarse facial features, facial milia, skeletal anomalies
  • Cardiac and ovarian fibromas
  • Multiple jaw keratocysts
  • Cancers
    • Basal cell carcinoma
    • Pituitary NeuroectodermalTumors (PNET) - Medulloblastoma
30
Q

Paragangliomas

A
  • Tumor of the sympathetic nervous system
    • Commonly found on the head, neck, and trunk
    • 97% are benign and will not metastasize
31
Q

Pheochromocytomas

A
  • Secretory tumors of the medulla and adrenal glands
    • Often oversecretion of catecholamines
32
Q

PGL/PCC physical features

(symptoms of oversecretion of catecholamines)

A
  • Persistent high blood pressure
  • Headache
  • Episodic profuse sweating
  • Palpitations
  • Pallor
  • Anxiety
33
Q

PGL/PCC genes

A
  • SDHA, SDHB, SDHC, SDHD, SDHAF2, MAX
    • SDHD is maternally imprinted
34
Q

Birt-Hogge-Dubé - Cancers

A
  • Chromophobe renal cell carcinoma
  • Colon
35
Q

BHD Skin Findings

A
  • Fibrofolliculomas
  • Trichodiscomas
  • Perifollicular fibromas
36
Q

BHD - other symptoms

A
  • Spontaneous pneumothorax
  • Renal cysts
  • Lung cysts
  • Thyroid nodules/cysts
37
Q

BHD gene

A
  • FLCN
38
Q

Von-Hippel-Lindau tumors

A
  • Renal cell carcinoma
  • CNS and retinal hemangioblastoma
  • Pheochromocytoma
  • Paraganglioma
  • Endolymphatic sac tumor
  • Pancreatic

Renal cysts

39
Q

Von-Hippel-Lindau gene

A
  • VHL
40
Q

MEN Type 1 Cancers

A
  • Parathyroid
  • Pituitary
  • Pancreatic
  • Adrenocortical
41
Q

MEN Type 1 non-endocrine tumors

A
  • Angiofibromas
  • Collagenomas
  • Lipomas
  • Meningiomas
  • Leiomyomas
42
Q

MEN Type 1 Gene

A
  • MEN1
43
Q

MEN Type 2a Cancers

A
  • Medullary thyroid
  • Pheochromocytoma
  • Parathyroid adenoma
44
Q

MEN Type 2B

A
  • Medullary thyroid cancer (onset in early childhood)
  • Marfanoid habitus
  • Lip and tongue mucosal neuromas
  • Medullated corneal nerve fibers
45
Q

Familial Medullary Thyroid Carcinoma

(FMTC)

A
  • Medullary thyroid cancer (later onset than MEN2)
    • Absence of PGL/PCC
46
Q

Hirshprung’s Disease

A
  • Megacolon
  • Constipation
  • Absence of neural ganglion cells from intestinal tract
    • Typically restricted to rectosigmoid
      • “Short-segment disease”
47
Q

RET gene mutations

A
  • MEN2A
  • MEN2B
  • FMTC
  • Hirshprung’s disease
48
Q

Tuberous Sclerosis Complex Tumors

A
  • Brain
    • Astrocytoma
    • Cortical tubers
    • Sub-ependymal nodules in ventricles
  • Neuroendocrine tumors
    • Pituitary adenoma
    • Parathyroid adenoma
    • Pancreatic adenoma
49
Q

TSC skin findings

A
  • Shagreen patches
  • Hypomelanotic patches
  • Ungual fibromas
  • Angiofibromas
50
Q

TSC additional findings

A
  • Cardiac rhabdomyomas
  • Retinal nodular hamartomas
  • Retinal achromic patch
  • Cortical dysplasia
  • Renal cysts
51
Q

TSC genes

A
  • TSC1
  • TSC2
52
Q

Carney Complex Tumors

A
  • Thyroid
  • Testicular - sertoli cell
  • Breast - ductal adenoma
  • Endocrine tumors
53
Q

Carney Complex - Other findings

A
  • Spotty skin pigmentation
  • Mucosal pigmentation
  • Myxomas - cardiac, breast, bone
  • Psammomatous melanotic schwannoma
  • Blue nevi
  • Acromegaly secondary to growth-hormone producing adenomas
54
Q

Carney Complex Genes

A
  • PRKAR1A

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