Genetic Counseling Cancer Genetics Reviews
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| Treating retinoblastoma patients with radiation presents its own set of risks. Explain | Patients with retinoblastoma are highly susceptible to radiation. The exposure to radiation can be a cause of another cancer because the patients are already placed at a predisposition to cancers.
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| Name several (at least 3) cancer predisposition syndromes where the new mutation rate is at least 50%. | NF1, Tuberous Sclerosis, MEN2B, NF2
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| There are a number of genotype-phenotype correlations in von Hippel-Lindau disease. Please describe/discuss. # | VHL is seen to have genotype-phenotype correlation where certain types of genetic manipulations produce certain phenotypes where other mutations or changes create very markedly different changes.
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| Distinguish between an oncogene and a tumor suppressor gene | Oncogene and results in unregulated cell growth and transformation. Tumor suppressor genes are just one type of the many genes malfunctioning in cancer.
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| What are some adaptive coping responses to cancer fears | Accepting responsibility, cognitive avoidance, fighting spirit, humor, intellectualism, magical thinking, planning, positive reappraisal, seeking approval from caregivers, seeking social support, stoic acceptance
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| Name one hereditary cancer syndrome where you find shagreen patch. What gene causes this disorder? | Tuberous Sclerosis. TSC1 and TSC2 gene mutations.
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| In what cancer syndrome do you find pineal cancer? | Trilateral Retionblastoma.
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| Epigenetic modification of genes can sometimes lead to cancer. Give one example of a syndrome in which this happens and list the corresponding gene affected. | Hypermethylation of MLH1 is seen in cases of Lynch syndrome.
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| In what hereditary cancer syndrome do you find premature aging and cataracts? What gene causes this disorder? In what country would find this more frequently? What are the malignancies associated with this disorder? | Werner syndrome is characterized by premature aging and cataracts. The PRN. Japan. Soft tissue sarcomas, osteosarcomas, uterine myosarcomas, meningiomas and adenomas of the thyroid, parathyroid, adrenal cortex, breast and liver.
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| List 4 recessively inherited cancer syndromes. | Ataxia-telangictasia, Bloom syndrome, Xeroderma Pigmentosum and Fanconi Anemia.
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| What are the steps involved in metastasis? | Separate from the primary tumor, enter into the circulatory or lymphatic system, survive the , escape destruction by the immune system, enter into the target organ, attach to the surface, proliferate cells, provide nourishment for the new tumor mass.
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| What are some maladaptive coping responses to cancer fears? | Anxious preoccupation, confrontational, denial, displacement, distancing, escape-avoidance, fatalism, projection, rationalization, regression, self-controlling.
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| In what disorder do you find characteristic “blue” skin hemangiomas? | Blue rubber bleb nevus syndrome
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| What cancer predisposition syndrome has characteristic palmar pits? What gene causes this disorder? | Nevoid Basal Cell Carcinoma Syndrome / Gorlin syndrome. The gene is PTC.
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| Name two examples of translocations that cause cancer. Give me both the chromosomes affected and what it causes. | Philadelphia chromosome between chromosome 9 and 22 which is seen to cause chronic myelogenous leukemia and a translocation between chromosome 8 and 14 causing Burkett's lymphoma.
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| What various mechanisms can lead to loss of heterozygosity? | Chromosome loss, deletion, unbalanced translocation, loss and reduplication, mitotic recombination, and point mutations can cause a loss of heterozygosity.
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| In what disorder do you find vestibular schwannomas? | Neurofibromatosis type 2.
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| Name a cancer predisposition syndrome in which you find macrocephaly? What are the component cancers of this syndrome? What is the gene that causes it? | Cowden syndrome is seen to have macrocephaly. The component cancers of Cowden sydrome include: Breast, Thyroid, and Endometrial Cancer. Cowden syndrome is caused by mutations in the PTEN gene
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| Name 5 hereditary cancer syndromes in which breast cancer is a component. | Li-Fraumeni, Cowden, Hereditary Breast and Ovarian Cancer, Peutz-Jeghers and Bloom syndrome.
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| What is the overall lifetime risk for cancer in men? In women? | 1 in 2 for males, 1 in 3 for females.
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| What percentage of women will develop breast cancer at some point in their lives? | 1 in 8 women develop breast cancer at some points in their lives.
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| What are four things you would consider in evaluating the psychological well-being of your patient? | General appearance, attention and concentration, mood and affect.
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| Give two examples of chronic conditions that predispose to cancer development. | Obesity and Celiac disease can predispose to cancer development.
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| Is there a significant risk for cancer development in NF1? Please explain | NF1 does not have a significant risk for cancer development. It is seen in about 7% of patients with NF1 develop cancer over their lifetime.
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| What are the diagnostic criteria for NF1? | 1st degree relative with NF1, 6 or more cafe-au-lait spots, 2 or more neurofibromas of any type or one plexiform neurofibromas, freckling of the armpits or groin, optic glioma, 2 or more Lisch nodules, distinctive bony lesion,
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| What are some “trigger points” that may affect client response to counseling? | Any major life transition, When a relative is newly diagnosed with cancer, The anniversary of the client's cancer diagnosis, the anniversary of a relative's cancer diagnosis or death, when the client approaches the age
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| Talk about contracting in a cancer genetic counseling session. What are the components? Why is it important? | Listening to the client's goals, communicating the counselor's goals, outlining the clinic visit, assess the underlying motivators, and setting the tone are all components of a contracting portion of the cancer genetic counseling session.
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| Who was the scientist who tried to prove that cancer was an infectious disease and what organism was he studying? | Peyton Rous. Proved sarcomas in chickens caused by a virus, later found to be v-src.
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| What are the anatomic features of a cancer cell? | Chromosomal aneuploidy is common as well structural rearrangements. The cells of a tumor population are heterogeneous and have varying features. Tumor cells proliferate and gain metastatic potential at varying rates
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| What are some characteristic features that would help you in diagnosing a patient with Peutz-Jeghers? | Multiple hamartomatous gastrointestinal polyps, pigmented macules of fingers, toes, lips or buccal mucosa. I would also look for cancers of the colon, breast, pancreas, uterus, ovary, lung or testes.
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| Name an inherited cancer syndrome in which genetic imprinting is a factor. | Hereditary paraganglioma is characterized by imprinting which is inherited from their fathers.
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| What are the cancer risks for BRCA1 carriers? | Breast, ovarian, cervical, uterine, pancreatic, testicular and prostate and colon cancer
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| In what percentage of heritable retinoblastoma cases would you see unilateral retinoblastoma? Bilateral retinoblastoma? | Bilateral retinoblastoma is seen in 1/4 of all cases and unilateral retinoblastoma is seen in 10-15% of heritable retinoblastoma
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| What are some factors that increase breast cancer risk? | Obesity, Alcohol consumption, family history, BRCA1 or 2 mutations.
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| List the Ashkenazi founder mutations in BRCA1/BRCA2. | 185delAG, 5382insC, 6147delT
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| In what disorders do you find male breast cancer? | Klinefelter, BRCA2, Cowden
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| What are some mechanisms that lead to oncogene activation? | Point mutations, Chromosome rearrangements, Gene amplifications, Viral insertion.
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| Between NF1 and NF2, which has a higher incidence? Be specific, I am looking for numbers here. | NF1 is seen typically 1 in 3,000 to 4,000 births, and NF2 is seen in1:33,000-40,000 individuals with some quoting an increase to 1 in 25,000.
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| What are the options currently available to mutation carriers to reduce cancer risk? | Undergoing the proper screening methods that are described in the medical literature for the cancers they may be predisposed to. Prophylactic surgeries are also an option to reduce the cancer risks even further.
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| Give me two examples of cancer predisposition syndromes caused by oncogenes. | MEN2, hereditary papillary renal cancer
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| What are the cancer risks for BRCA2 carriers? | Breast, Ovarian, Larynx, esophagus, stomach, gall bladder, bile duct and melanoma.
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| Name two syndromes in which characteristic freckling helps with diagnosis. How would you distinguish between the two? | Peutz-Jeghers and Neurofibromatosis type 1. The freckling in Peutz-Jeghers is located on lips and the freckling in NF1 is located in places where the sun typically does not reach like under the armpits and around the inguinal area.
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| What is an autosomal recessive syndrome that has an increased risk for breast cancer? | Ataxiatelangectasia.
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| What is the current recommendation for BRCA carriers regarding to risk of ovary cancer? | Undergo screening by having CA-125 levels check and pelvic exams and ultrasounds. BRCA carriers may even want to think about possibly having an oopherectomy to remove the ovaries completely to reduce the risk of ovarian cancer even further.
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| What is the gene for Tuberous Sclerosis? What are some of the characteristic cutaneous features of this disorder? | TSC1 and TSC2 are the genes which are implicated in Tuberous sclerosis. Cutaneous features of this disorder include; shagreen patches, ash leaf spots, periungual fibromas, facial angiofibromas, Molluscum pendulum and "confetti-like" macules.
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| What gene causes Peutz-Jeghers? | STK11
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| What was the significance of Knudson’s two hit hypothesis | Knudson's two hit hypothesis is responsible for the understanding we have currently of carcinogenesis. One germline copy of a damaged gene present in every cell in the body was not sufficient. A second hit (or loss) to the good copy producing cancer.
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| What are some possible warning signs of psychological distress? | Increased sleep disturbance, less energy or effectiveness at completing tasks, changed eating habits, crying more easily or more often, increased irritability, decreased enjoyment in activities, increased feelings of hopelessness.
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| In what cancer predisposition do you find adrenocortical tumors? What is the gene that causes this disorder? | Cushing syndrome. PRKAR1A is the gene implicated.
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| What is the risk for male breast cancer in BRCA2 carriers? | 6%
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| What are 2 cancer predisposition syndromes seen more commonly in Japan? | FAP, XP
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| What are the three major categories of symptoms/clinical findings in individuals with XP? | Cutaneous, Ocular, and Neurological.
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| What are the component cancers in Juvenile Polyposis? | Colorectal, stomach, small intestine and pancreatic cancers.
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| In what syndrome do you find colon cancer and sebaceous tumors? | Muir-Torre
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| In MEN1, what is usually the first symptom? | Hyperparathyroidism (high PTH)
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| What is the most frequently reported malignancy in Rothmund-Thompson? | Osteosarcoma
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| What gene causes Turcot syndrome? | Changes in the APC gene and MLH1 and PMS2 genes.
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| At what age should you offer genetic testing in families with medullary thyroid cancer? | Before the age of 5 years in MEN2a/FMTC and before the age of 2 years in MEN2B.
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| At what age should you consider prophylactic thyroidectomy in families with known RET mutations? | <1 year of age
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| What are the various cancer risks in Peutz-Jeghers? | Breast, Colorectal, Pancreatic, Stomach, Ovarian, Lung, Small intestine, Cervical, Uterine, Testicular and Esophageal cancer.
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| In what hereditary cancer syndrome do you find pneumothorax? | Birt-Hogg-Dube
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| Which gene is responsible for Fanconi Anemia among Ashkenazi Jewish individuals? | BRCA2
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| We have discussed three genes that, when mutated, increase the risk of colon cancer in Ashkenazi Jews. What are they? | BLM, APC (I1307K), and MSH2 (G1906K)
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| Name two cancer predisposition syndromes where you find immune deficiency. | Bloom syndrome and Ataxia Telangectasia.
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| What is the gene for XP? | XPA, ERCC3 (XPB), XPC, ERCC2 (XPD), DDB2 (XPE), ERCC4 (XPF), ERCC5 (XPG), ERCC1, and POLH (XP-V)
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| What is the life expectancy for XP? | Overall life expectancy is reduced by 30 years on average.
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| Which XP complementation group has the highest likelihood of neurological problems? | XPD
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| You see specific types of brain lesions in Turcot syndrome depending on the gene that is causal. If your patient has a glioma and a history of colon cancer, what gene testing would you offer? | We would test for Lynch syndrome, specifically in the MLH1 and PMS2 genes.
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| What percentage of men will develop prostate cancer at some point in their lives? | 1/7 or 14%
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| What is Wilms tumor? | Wilms tumor is one of the most common solid tumors of the kidneys in children. Both sporadic and familial cases occur.
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| Talk about imprinting in hereditary paraganglioma. What gene causes this? | Herediatry paraganglioma is associated with a maternal genomic imprinting for SDHD gene. Affected individuals inherit the disease gene from their fathers.
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| Name an X-linked cancer predisposition syndrome. What are the clinical features? | Simpson-Golabi-Behmel syndrome: Macroglossia, macrosomia, renal and skeletal abnormalities. Increased risk of embryonal tumors: Wilms tumor, Hepatocellular carcinoma, Neuroblastom and Testicular gonadoblastoma.
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| In what genetic syndromes might you find Wilms tumor? | WAGR, Beckwidth-Wiedeman, Denys-Drash syndrome, Simpson-Golabi-Behmel, Pearlman, NF1
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| Distinguish between MEN 2A and MEN 2B. | MEN2A: MTC, Pheos, Parathyroid hyperplasia.
MEN2B: MTC, Pheos, Parathyroid hyperplasia is rare, mucosal neuromas of lips and tongue, enlarged lips, ganglioneuromatosis of the GI tract and Marfanoid Habitus.
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| In what syndrome do you find parathyroid carcinomas? | Hyperparathyroidism-jaw tumor syndrome
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| What causes Lynch syndrome? | The majority of Lynch syndrome is due to a mutation in either the MLH1 or MSH2 gene. Mutations in the MSH6 gene, the PMS2 gene, and possibly other genes can also cause Lynch syndrome.
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| What are the characteristic features of Lynch syndrome? | People with Lynch syndrome have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. High risk of cancer of the endometrium and ovaries.
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| What are the clinical features of Carney complex? | myxomas in the heart (cardiac myxoma) and other parts of the body. People with this condition may develop a specific type of adrenal disease called primary pigmented nodular adrenocortical disease (PPNAD)
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| Discuss genetic heterogeneity in Wilms tumor. | Wilms tumore may be caused by changes on different chromosomes. WT1 is located on 11p13, WT2 on 11p15, biallelic BRCA2 mutations, and FWT1 on chromosome 17q12-21.
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| What are the Amsterdam criteria? | At least 3 relatives with histologically confirmed colorectal cancer, 1 of whom is a first degree
At least 2 successive generations involved;
At least 1 of the cancers diagnosed before age 50.
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| In what syndrome do you find a high-pitched and hoarse voice? | Werner syndrome.
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| What cancer predisposition syndrome is characterized by a butterfly rash and malar hypoplasia? | Bloom syndrome
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| Name one dominant and one recessive syndrome where you find osteosarcoma. | Autosomal Dominant: Li Fraumeni syndrome
Recessive: Rothmund-Thomson syndrome
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| What are the cancer risks associated with Hereditary Diffuse Gastric Cancer? | Stomach, Breast and Colorectal cancer.
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| In which cancer predisposition syndrome does the gene responsible normally suppress sister chromatid exchange? | Bloom syndrome
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| Name two cancer predisposition syndromes where you find cataracts? | Werner syndrome and Gorlin syndrome.
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| How would you recognize a family with Familial Colorectal Cancer Type X? | A family with no DNA mismatch-repair defect identified but still having the clinical presentation of colon cancer. Some of these colon-cancer syndromes will manifest as mixed polyposis.
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| Talk about genotype-phenotype correlations in MEN 2 | The concept of genotype-phenotype correlations in MEN 2 is based on the proven concept that changes in the RET gene at different locations will often play a role in what the patient will present with; MEN2A, FMTC, MEN2B.
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| How would you go about diagnosing Fanconi Anemia? | Diagnosis of Fanconi Anemia is based on chromosomal breaks and other aberrations detected using diepoxybutane or mitomycin C in culture.
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| What are the extracolonic features of FAP? | Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE), desmoid Tumors, osteomas, supernumerary teeth, missing teeth, soft tissue skin tumors, epidermoid cysts, sebaceous cysts, fibromas
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| What is the likelihood (percentage risk) of developing colon cancer in a person with a confirmed APC mutation? | Almost 100% by age 40.
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| Name three syndromes that are associated with mutations in DNA helicase genes. | Bloom, Werner, and Rothmund-Thomson syndrome.
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| Describe the clinical presentation of MYH polyposis. What is the inheritance pattern? | Colon/rectum, Duodenal, Prostate, pancreatic, renal, and uteine cancers. 0 adenomas to 1000s of adenomas. Autosomal Recessive.
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| Name a cancer predisposition syndrome with radial limb defects. | Fanconi Anemia: radial hypoplasia.
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