CANCER GENETICS PROVIDER SURVEY
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- Sheena Morton
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1 Dear Participant, Previously you agreed to participate in an evaluation of an education program we developed for primary care providers on the topic of cancer genetics. This is an IRB-approved, CDCfunded project called, Family history education to improve genetic risk assessment for cancer. We appreciate your participation to date and would like to survey you one last time about genetic concepts and terminology that may be relevant to your practice. The attached survey consists of 47 items and should take you no more than 20 minutes to complete. You can best assist us by answering on the basis of your existing knowledge, without reference to outside sources. For each question, select the single best answer by circling one of the response options or checking a box. When you have completed the survey, please contact Diane Schoeff at Diane.Schoeff@va.gov or at ext 7829, and she will arrange for a member of our team to pick up the survey. If you have any questions about this study or your participation, please contact me at (310) x48692 or (818) x7235, or me at maren.scheuner@va.gov. Thank you for your continued support. Sincerely, Maren T. Scheuner, MD, MPH, FACMG Principal Investigator VA Greater Los Angeles Healthcare System Page 1
2 1. Risk assessment for hereditary cancers should include collection and documentation of: a. Cancer in first- and second degree relatives b. Lineage (i.e., maternal or paternal) of affected second-degree relatives c. Age at diagnosis of cancer d. All of the above 2. Family history characteristics of most hereditary cancer syndromes include all of the following, except: a. Earlier age at diagnosis b. Occurrence of multiple primary cancers c. Non-responsiveness to usual chemotherapy d. Autosomal dominant inheritance 3. Breast cancer and follicular thyroid cancer among close relatives or in one family member are typical features of: a. Li Fraumeni syndrome b. Cowden syndrome c. Hereditary breast-ovarian cancer syndrome d. Juvenile polyposis 4. Colon, gastric, ureter and small bowel cancers among close relatives or in one family member are typical features of: a. von Hippel Lindau syndrome b. Peutz-Jeghers syndrome c. Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome d. Familial adenomatous polyposis 5. Inherited mutations in the APC gene are associated with a hereditary cancer syndrome featuring: a. Breast cancer and ovarian cancer b. Kidney cancer and cerebellar hemangioblastoma c. Breast cancer and thyroid cancer d. Adenomatous polyps and colorectal cancer Page 2
3 6. An important limitation of genetic testing is the identification of variants of uncertain significance. The type of mutation most likely to be reported as a variant of uncertain significance is: a. A nonsense mutation a nucleotide substitution that prematurely codes for a stop in amino acid translation b. A missense mutation a nucleotide substitution that results in the translation of a different amino acid at that position. c. A frameshift mutation an insertion or deletion involving a number of base pairs that is not a multiple of three and consequently disrupts the reading frame. d. A splice site mutation a mutation that alters or abolishes the specific sequence denoting the site at which the splicing of an intron takes place 7. A molecular genetic test report states that an individual has two identical mutant alleles. This indicates: a. Homozygosity b. Heterozygosity c. Hemizygosity d. Compound heterozygosity 8. Which of the following relates to the term, penetrance? a. The probability that a gene or genetic trait will be expressed b. Often pertains to autosomal dominant conditions c. May be complete or incomplete d. All of the above 9. Some individuals with Lynch syndrome will develop colorectal cancer at a very young age (e.g., 30 s or 40 s) while others will develop colorectal cancer in their 60 s. Some individuals with Lynch syndrome will have more than one cancer in their lifetime, while others may have only one cancer. This is an example of: a. Multifactorial inheritance b. Imprinting c. Variable expressivity d. Loss of heterozygosity 10. The process of synthesizing messenger RNA (mrna) from DNA is called: a. Transcription b. Translation c. Replication d. Methylation Page 3
4 11. One version of a gene at a given location (locus) along the chromosome is: a. A nucleotide b. An exon c. An allele d. A codon 12. The prevalence of BRCA1 and BRCA2 gene mutations is highest among: a. Ashkenazi Jews b. Pacific Islanders c. Hispanics d. African Americans 13. Among all colon cancer cases, the frequency of hereditary nonpolyposis colorectal cancer syndrome (HNPCC) also known as Lynch syndrome is estimated to be: a. 20% b. 3% c. 0.5% d. 0.1% 14. Informed consent for hereditary cancer susceptibilities should include information regarding the following items, except: a. Limitations of the genetic test methodology b. Management and prevention strategies given the possible results from testing c. Implications of test results for family members d. A description of the laboratory conducting the testing Page 4
5 For questions 15 through 18: CG is a 36-year old woman recently diagnosed with stage 1 breast cancer. Her mother died from breast cancer at age 42 and one of her mother s sisters died from ovarian cancer at age 58. (See pedigree below.) 15. CG s history is most consistent with: a. Cowden syndrome b. Li-Fraumeni syndrome c. Hereditary breast-ovarian cancer d. Hereditary site-specific breast cancer e. None of the above 16. The probability that CG s daughter inherited a cancer susceptibility gene mutation from CG is: a. 0% b. 5% c. 25% d. 50% e. 100% 17. If genetic testing of CG revealed a hereditary cancer susceptibility gene mutation, in your opinion who should inform her relatives of these results? a. The laboratory b. The clinical geneticist c. The physician who ordered the test d. The patient, CG 18. Based on the above information, the most appropriate preventive option for CG includes: a. Thyroid ultrasound every 2 years b. Colonoscopy every 2 years c. Prophylactic bilateral salpingo-oophorectomy d. Urine for catecholamines every 5 years Page 5
6 For questions 19 through 21: MP is a 31-year old woman with stage 1 breast cancer. She had BRCA1/2 testing and no mutation was identified. One of her sisters was diagnosed with breast cancer at age 35 and a paternal aunt was diagnosed with breast cancer at age 42. (See pedigree below.) 19. MP s history is most consistent with: a. Cowden syndrome b. Li-Fraumeni syndrome c. Hereditary breast-ovarian cancer d. Hereditary site-specific breast cancer e. None of the above 20. Which of the following is indicated: a. Reassure MP that a genetic predisposition to cancer is unlikely b. Inform MP that her risk for ovarian cancer is increased c. Reassure MP that her daughters and nieces do not have an increased breast cancer risk d. None of the above 21. Based on the above information, which of the following is indicated: a. Discuss bilateral mastectomy as a way to reduce MP s risk of another primary breast cancer b. Discuss bilateral salpingo-oophorectomy as a way to reduce MP s risk of ovarian cancer c. Discuss prohylactic coloctomy as a way to reduce MP s risk of colon cancer d. None of the above Page 6
7 For questions 22 through 23: AJ is a 42-year old man who was recently diagnosed with colon cancer. More than 100 adenomas were identified on colonoscopy. He has no family history of colon cancer. (See pedigree below.) 22. Which of the following is most likely: a. Genetic testing in AJ is likely to identify an inherited BRCA1 gene mutation b. Genetic testing in AJ is likely to identify an inherited APC gene mutation c. AJ s tumor shows high microsatellite instability (MSI) d. AJ s tumor shows lack of immunohistochemical staining for the MSH2 protein 23. If a hereditary colon cancer syndrome were confirmed through genetic testing of AJ, his negative family history could be explained by: a. Non-paternity b. Germline mosaicism c. Reduced penetrance d. Autosomal recessive inheritance e. All of the above Page 7
8 For questions 24 through 27: TM is a 36-year old woman without a personal history of cancer. Her sister was diagnosed with endometrial cancer at age 42, her father died from colon cancer at age 45, and her paternal grandfather died from colon cancer in his 50 s. (See pedigree below.) 24. TM s family history is most consistent with: a. Cowden syndrome b. Li-Fraumeni syndrome c. Hereditary breast-ovarian cancer d. Hereditary nonpolyposis colorectal cancer/lynch syndrome e. None of the above 25. TM s probability of inheriting the hereditary cancer susceptibility seen in her family is: a. 0% b. 5% c. 25% d. 50% e. 100% 26. The occurrence of colorectal cancer and endometrial cancer in the family can be explained by: a. Reduced penetrance b. Variable expressivity c. Phenocopies d. Multifactorial inheritance 27. Based on the above information, which of the following is indicated: a. TM s daughters, ages 14 and 15 years, should undergo screening colonoscopy now and every 1 to 2 years b. TM s sister with endometrial cancer should consider prophylactic bilateral mastectomies c. TM, age 36 years, should undergo screening colonoscopy now and every every 1 to 2 years d. All of the above Page 8
9 For questions 28 through 31: BD is a 25-year old woman recently diagnosed with stage 2 ovarian cancer. She is not aware of any other cancer diagnoses in her family. You are asked to assess the likelihood that BD has a hereditary form of ovarian cancer. (See pedigree below.) 28. In your opinion, which of the following is the best next step: a. Review BD s pathology report b. Recommend that BD have BRCA1 and BRCA2 testing c. Recommend that BD have PTEN testing d. Order microsatellite instability (MSI) testing of BD s ovarian tumor 29. Diagnosing a hereditary cancer susceptibility in BD could provide information about: a. Her future cancer risks b. Cancer susceptibility in her siblings c. Cancer susceptibility in her parents d. All of the above 30. If a hereditary cancer susceptibility following autosomal dominant inheritance were confirmed in BD, then the probability of inheriting the susceptibility for each of her 4 nieces is: a. 0% b. 25% c. 50% d. 100% 31. If a familial mutation is found in BD and this mutation is excluded in a sister (i.e., she has a normal result), a reaction from her sister that you might expect includes: a. Anxiety b. Survivor guilt c. Sibling rivalry d. All of the above Page 9
10 For the questions 32 through 42, please rate the relevance of each item relative to your clinical practice. Item Not at all Relevant Somewhat Relevant Relevant Very Relevant 32. Document family history in the medical record 33. Assess family history risk 34. Recognize patterns of inheritance 35. Know which cancer combinations are associated with common hereditary cancer syndromes 36. Know management options for individuals with hereditary cancer syndromes 37. Know when and why to refer a patient for genetic consultation 38. Be aware of ethical issues related to testing for and diagnosis of hereditary cancer syndromes 39. Know genetic terminology used to describe features of hereditary cancer syndromes 40. Know the genes that underlie common hereditary cancer syndromes 41. Be familiar with the types of mutations identified by common genetic testing techniques 42. Know the limitations of common genetic testing techniques Page 10
11 Your responses to questions 43 through 47 will be used to help us describe participants in this survey. Your responses will be reported in aggregate and not associated with your specific characteristics. 43. Select the best response to describe your role in the clinic: a. Attending physician b. Physician Assistant c. Nurse Practitioner d. Resident 44. Where do you see VA patients (Select all that apply): a. West Los Angeles VA Medical Center b. Sepulveda Ambulatory Care Center c. Los Angeles Outpatient Care Center d. Other locations; please specify: 45. What is the age composition of your patient panel in the Women s Clinic? a. Mostly age 60 and older b. Mostly between age 40 and 60 c. Mostly under age 40 d. Wide range of ages 46. How many years have you been practicing in primary care? years 47. How many years have you been practicing in primary care at the VA? years Thank you for completing this survey. Page 11
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