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xD2 Genetics Final > GenF Hereditary Cancer > Flashcards

GenF Hereditary Cancer Flashcards

1
Q

Is heredity a large or small component of cancer?

A

Small. sporadic incidence of cancer is largest slice, followed by familial, hereditary is last

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2
Q

What type of inheritance does hereditary cancer have : autosomal dominant, autosomal recessive, X- linked, Y-linked, mitochondrial?

A

Autosomal dominant

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3
Q

Is hereditary cancer early or late onset?

A

Early onset

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4
Q

is there a single primary cancer or multiple primary cancers in hereditary cancer?

A

Multiple primaries

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5
Q

What is the character of tumors in hereditary cancers?

A

Rare tumors

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6
Q

What is the appearance of those with hereditary cancers?

A

Syndromic appearance

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7
Q

What is the formula for determining relative risk (e.g. would I be at increased risk of cancer if my brother had it)? The risk factor for hereditary cancer is heredity.

A

Relative risk = (incidence in those with Risk Factors) divided by (Incidence in those without Risk Factors)

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8
Q

What else was shown when determining risk factors for hereditary cancers?

A

Risk is multifactorial, i.e. genes + environment

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9
Q

What were the ways they did studies to determine hereditary nature of some cancers?

A
  1. Family studies
  2. Twin studies
  3. Genomic studies (candidate gene and Genome Wide association studies)
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10
Q

What does a Genome Wide Association Study do?

A

Look at all polymorphisms in a cancer pt population and compare to control, polymorphisms in non-cancer population

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11
Q

Is there a genetic component to cancer, and what is its relation to populations?

A

Genetic component but low from a population perspective

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12
Q

What is the Triad of Dyskeratosis Congenita?

A
  1. Dysplastic nails
  2. Reticular pigmentation of upper chest
  3. Oral Leukoplakia
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13
Q

What is the cancer associated with Dyskeratosis Congenita?

A

Bone marrow, leukemia, oral squamous cell carcinoma

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14
Q

What is the dental treatment and plan for Dyskeratosis Congenita patient?

A

6 month recall, monitor leukoplakia, annual otolaryngologist and dermatology appointments

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15
Q

Fanconia Anemia is what inheritance, and some phenotypes?

A

Autosomal recessive, malformed thumbs, squamous cell carcinoma on tongue

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16
Q

Bloom Syndrome is what inheritance and some phenotypes?

A

Autosomal recessive, red skin lesion in butterfly area of face after sun exposure. Tongue carcinoma

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17
Q

Xeroderma Pigmentosa is what inheritance and some phenotypes?

A

Autosomal recessive, sunsensitive, photophobia, tongue squamous cell carcinoma

18
Q

What are 6 benign oral tumors that can be associated with Cancer syndromes?

A
  1. Buccal neuroma
  2. Gingival fibroma
  3. Hamartomas
  4. Oral papules
  5. Jaw cysts
  6. Osteomas
19
Q

What cancer syndrome that has oral cobblestoning (papillomatous lesions) with breast, uterus and thyroid cancer risk?

A

Cowden Syndrome

20
Q

What is the inheritance for Cowden Syndrome?

A

Autosomal dominant

21
Q

What is a cancer syndrome that has Mucosal neuromas of the lip and tongue (pictures with tip of tongue), with distinctive faces, large lips, Marfanoid Habitus?

A

Multiple Endocrine Neoplasia Type II B (MEN 2 B)

22
Q

What is the cancer risk for MEN 2 B?

A

Medullary thyroid cancer, so give prophylactic thyroidectomy

23
Q

What are the oral findings of Tuberous Sclerosis?

A

Gingival fibrous and dental enamel pits with increased kidney failure

24
Q

What are the 2 main causes of death in pt with Tuberous Sclerosis?

A
  1. CNS tumor

2. Renal disease

25
Q

What are 2 cancer risks for Tuberous Sclerosis?

A
  1. Astrocytoma

2. Renal cell carcinoma

26
Q

What are 3 autosomal dominant hereditary cancer syndromes with oral manifestations?

A
  1. Neurofibromatosis type I
  2. Basal Cell Nevus Syndrome
  3. Familial Adenomatious Polyposis (FAP)
27
Q

What is an autosomal dominant hereditary cancer syndrome with Café au lait spots, inguinal/axillary freckling, Lisch nodules, increased cancer risk?

A

Neurofibromatisis Type I

28
Q

What is an autosomal dominant cancer syndrome with multiple basal cell carcinomas, gastric polyps, bifid ribs, mandibular jaw cysts(OKC), palmar and plantar pits?

A

Basal Cell Nevus Syndrome (Gorlin)

29
Q

What is an autosomal dominant cancer syndrome with multiple adenomatous polyposis in larege bowel, jaw lesions? You treat this with a colectomy

A

Familial Adenomatous Polyposis

30
Q

What are 2 non-tumor oral findings that can be associated with cancer syndromes?

A
  1. Macroglossia

2. Hyperpigmentation of Lipls

31
Q

What is a cancer syndrome with risk of Wilms tumor and hepatoblastoma with oral findings of Macroglossia, macrosomia, renal abnormalities?

A

Beckwith-Wiedemann Syndrome

32
Q

What is a cancer syndrome with odontogenic cysts and hyperpigmentation of lips and oral mucosa, spotty pigmentation on fingers with ileal polyps?

A

Peutz-Jeghers Syndrome

33
Q

What is the mutation associated with Autosomal Dominant Peutz Jeghers Syndrome?

A

STK-11

34
Q

What are 6 things genetic counselors do?

A
  1. Identify family at risk
  2. Investigate problem in the family
  3. Interpret the information about the disorder
  4. Analyze inheritance pattern and assess risk
  5. Review available options with family
  6. Support and guide family through chosen path
35
Q

What condition has the following:

  1. Dysplastic nails
  2. Reticular pigmentation of upper chest
  3. Oral leukoplakia
A

Dyskeratosis Congenita

36
Q

What syndrome has a tip of the tongue SCC?

A

Xeroderma pigmentosa

37
Q

What syndrome has tongue, esophageal, and larynx carcinoma?

A

Bloom syndrome

38
Q

What syndrome has oropharyngeal and tongue squamous cell carcinoma?

A

Fanconi Anemia

39
Q

Which syndrome has Intraosseous plexiform neurofibroma of maxilla?

A

Neurofibromatosis Type I

40
Q

Which syndrome has jaw cysts (90%)?

A

Basal Cell Nevus Syndrome (Gorlin)

41
Q

Which syndrome has Jaw and mandibular osteomas and odontomas, dentigerous cysts, extra or missing teeth (17%)?

A

Familial Adenomatous Polyposis (FAP)

xD2 Genetics Final (7 decks)

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