GenF Hereditary Cancer Flashcards
Is heredity a large or small component of cancer?
Small. sporadic incidence of cancer is largest slice, followed by familial, hereditary is last
What type of inheritance does hereditary cancer have : autosomal dominant, autosomal recessive, X- linked, Y-linked, mitochondrial?
Autosomal dominant
Is hereditary cancer early or late onset?
Early onset
is there a single primary cancer or multiple primary cancers in hereditary cancer?
Multiple primaries
What is the character of tumors in hereditary cancers?
Rare tumors
What is the appearance of those with hereditary cancers?
Syndromic appearance
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.
Relative risk = (incidence in those with Risk Factors) divided by (Incidence in those without Risk Factors)
What else was shown when determining risk factors for hereditary cancers?
Risk is multifactorial, i.e. genes + environment
What were the ways they did studies to determine hereditary nature of some cancers?
- Family studies
- Twin studies
- Genomic studies (candidate gene and Genome Wide association studies)
What does a Genome Wide Association Study do?
Look at all polymorphisms in a cancer pt population and compare to control, polymorphisms in non-cancer population
Is there a genetic component to cancer, and what is its relation to populations?
Genetic component but low from a population perspective
What is the Triad of Dyskeratosis Congenita?
- Dysplastic nails
- Reticular pigmentation of upper chest
- Oral Leukoplakia
What is the cancer associated with Dyskeratosis Congenita?
Bone marrow, leukemia, oral squamous cell carcinoma
What is the dental treatment and plan for Dyskeratosis Congenita patient?
6 month recall, monitor leukoplakia, annual otolaryngologist and dermatology appointments
Fanconia Anemia is what inheritance, and some phenotypes?
Autosomal recessive, malformed thumbs, squamous cell carcinoma on tongue
Bloom Syndrome is what inheritance and some phenotypes?
Autosomal recessive, red skin lesion in butterfly area of face after sun exposure. Tongue carcinoma
Xeroderma Pigmentosa is what inheritance and some phenotypes?
Autosomal recessive, sunsensitive, photophobia, tongue squamous cell carcinoma
What are 6 benign oral tumors that can be associated with Cancer syndromes?
- Buccal neuroma
- Gingival fibroma
- Hamartomas
- Oral papules
- Jaw cysts
- Osteomas
What cancer syndrome that has oral cobblestoning (papillomatous lesions) with breast, uterus and thyroid cancer risk?
Cowden Syndrome
What is the inheritance for Cowden Syndrome?
Autosomal dominant
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?
Multiple Endocrine Neoplasia Type II B (MEN 2 B)
What is the cancer risk for MEN 2 B?
Medullary thyroid cancer, so give prophylactic thyroidectomy
What are the oral findings of Tuberous Sclerosis?
Gingival fibrous and dental enamel pits with increased kidney failure
What are the 2 main causes of death in pt with Tuberous Sclerosis?
- CNS tumor
2. Renal disease
What are 2 cancer risks for Tuberous Sclerosis?
- Astrocytoma
2. Renal cell carcinoma
What are 3 autosomal dominant hereditary cancer syndromes with oral manifestations?
- Neurofibromatosis type I
- Basal Cell Nevus Syndrome
- Familial Adenomatious Polyposis (FAP)
What is an autosomal dominant hereditary cancer syndrome with Café au lait spots, inguinal/axillary freckling, Lisch nodules, increased cancer risk?
Neurofibromatisis Type I
What is an autosomal dominant cancer syndrome with multiple basal cell carcinomas, gastric polyps, bifid ribs, mandibular jaw cysts(OKC), palmar and plantar pits?
Basal Cell Nevus Syndrome (Gorlin)
What is an autosomal dominant cancer syndrome with multiple adenomatous polyposis in larege bowel, jaw lesions? You treat this with a colectomy
Familial Adenomatous Polyposis
What are 2 non-tumor oral findings that can be associated with cancer syndromes?
- Macroglossia
2. Hyperpigmentation of Lipls
What is a cancer syndrome with risk of Wilms tumor and hepatoblastoma with oral findings of Macroglossia, macrosomia, renal abnormalities?
Beckwith-Wiedemann Syndrome
What is a cancer syndrome with odontogenic cysts and hyperpigmentation of lips and oral mucosa, spotty pigmentation on fingers with ileal polyps?
Peutz-Jeghers Syndrome
What is the mutation associated with Autosomal Dominant Peutz Jeghers Syndrome?
STK-11
What are 6 things genetic counselors do?
- Identify family at risk
- Investigate problem in the family
- Interpret the information about the disorder
- Analyze inheritance pattern and assess risk
- Review available options with family
- Support and guide family through chosen path
What condition has the following:
- Dysplastic nails
- Reticular pigmentation of upper chest
- Oral leukoplakia
Dyskeratosis Congenita
What syndrome has a tip of the tongue SCC?
Xeroderma pigmentosa
What syndrome has tongue, esophageal, and larynx carcinoma?
Bloom syndrome
What syndrome has oropharyngeal and tongue squamous cell carcinoma?
Fanconi Anemia
Which syndrome has Intraosseous plexiform neurofibroma of maxilla?
Neurofibromatosis Type I
Which syndrome has jaw cysts (90%)?
Basal Cell Nevus Syndrome (Gorlin)
Which syndrome has Jaw and mandibular osteomas and odontomas, dentigerous cysts, extra or missing teeth (17%)?
Familial Adenomatous Polyposis (FAP)
