Family First:  What you need to know about family history, genetic testing, and colorectal cancer.
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Family First: What you need to know about family history, genetic testing, and colorectal cancer.

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Have you and your family talked about the importance of knowing your family's medical history? ...

Have you and your family talked about the importance of knowing your family's medical history?

Did you know that 3% of all colorectal cancers are due to a syndrome called Lynch syndrome? Having Lynch syndrome puts you at an 80% increased risk of developing colorectal cancer.

This webinar will focus more about Lynch Syndrome and other inherited syndromes as they relate to colorectal cancer.

Heather Hampel, a genetics counselor from Ohio State University will discuss the importance of knowing your family history. She'll talk about when, how and where to find a genetics counselor, and what is it you should discuss with them.

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Family First:  What you need to know about family history, genetic testing, and colorectal cancer. Family First: What you need to know about family history, genetic testing, and colorectal cancer. Presentation Transcript

  • Welcome to Fight Colorectal Cancer’s Webinar Family First: What you need to know about genetic testing, family history& colorectal cancer Our webinar will begin shortly.
  • Today’s Webinar: 1. Today’s Speaker: Heather Hampel, MS, CGC 2. Archived Webinars: FightColorectalCancer.org/Webinars 3. AFTER THE WEBINAR: expect an email with links to the material. Also a survey on how we did, receive a Blue Star pin when completed 4. Ask a question in the panel on the RIGHT SIDE of your screen 5. Follow along via Twitter – use the hashtag #CRCWebinar
  • Upcoming Webinar Research News: The latest news about Colorectal Cancer Research & Treatment Presented in partnership with the Colon Cancer Alliance June 18, 2014 3pm EST / 2pm CT / 1pm MT / 12pm PT Get information at FightColorectalCancer.org/Webinars View slide
  • Funding Science Established in 2006, our Lisa Fund has raised hundreds of thousands of dollars to directly support the innovative research in treating late-stage colorectal cancer. 100% of the funds donated go directly to Late-stage colorectal cancer research. Learn more or donate: FightColorectalCancer.org/LisaFund View slide
  • Disclaimer The information and services provided by Fight Colorectal Cancer are for general informational purposes only. The information and services are not intended to be substitutes for professional medical advice, diagnoses, or treatment. If you are ill, or suspect that you are ill, see a doctor immediately. In an emergency, call 911 or go to the nearest emergency room. Fight Colorectal Cancer never recommends or endorses any specific physicians, products or treatments for any condition.
  • Speaker Heather Hampel, MS, CGC Ohio State University Comprehensive Cancer Center Twitter: @hhampel1
  • Family First: What you need to know about genetic testing, family history & colorectal cancer Heather Hampel, MS, CGC Professor, Division of Human Genetics November 5, 2011
  • 8 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Most cancers are not inherited 5-10% hereditary10-15% familial 75-85% sporadic
  • 9 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Who is at high risk for cancer? History is the key…
  • 10 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Family History An important first step in risk assessment for genetic diseases and other hereditary health conditions
  • 11 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Genetic Family History – My Family Health Portrait • “The family tree has become the most important genetic test of all…” • To help focus attention on the importance of family health history, U.S. Surgeon General in cooperation with other agencies within the U.S. Department of Health and Human Services (HHS) has launched a national public health campaign, called the U.S. Surgeon General's Family History Initiative, to encourage all American families to learn more about their family health history. http://www.hhs.gov/familyhistory/
  • 12 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute My Family Health Portrait • Americans know that family history is important to health. A recent survey found that 96 percent of Americans believe that knowing their family history is important. Yet, the same survey found that only one-third of Americans have ever tried to gather and write down their family's health history. http://www.hhs.gov/familyhistory/
  • 13 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute My Family Health Portrait • Because family health history is such a powerful screening tool, the Surgeon General has created a new computerized tool to help make it fun and easy for anyone to create a sophisticated portrait of their family's health. http://www.hhs.gov/familyhistory/
  • 14 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute National Family History Day • Thanksgiving is an annual National Family History Day. Thanksgiving is the traditional start of the holiday season for most Americans. • Whenever families gather, the Surgeon General encourages them to talk about, and to write down, the health problems that seem to run in their family. Learning about their family's health history may help ensure a longer future together. • http://www.hhs.gov/familyhistory/
  • 15 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Family history is a risk factor for diseases throughout all stages of life infants children adolescents adults older adults birth defects blood disorders Alzheimer’s disease osteoporosis cancer heart disease diabetes depression asthma autism
  • 16 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Taking a Family History  Obtain at least a three-generation pedigree  Ask about all individuals in the family and record:  Age at any diagnosis, age at and cause of death  Any corrective surgeries  Associated congenital abnormalities  Record ethnicity and religious background  Some cancer syndromes are more common in individuals from certain ethnic groups
  • 17 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Three-Generation Pedigree Colon cancer dx 40 62 35 German/Polish English/Irish Endometrial Cancer dx 49 d. 72 d. 80 67 5565 Diabetes, dx 45 59 52 30 d. 70 d. 85
  • 18 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Family History Questionnaires Name Davis, John Jones, Mary Date of Birth 2/1/40 4/9/42 Age at dx/ Type of Cancer CRC dx 48 Endometrial dx 52 Date of Death 4/3/87 N/A Hospital U. Minn. Franklin Medical center
  • 19 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Information to Obtain About Affected Relatives  Current age  Age at and date of diagnosis/death  Type and number of colon polyps  Type and location of cancer  Primary cancer location vs. metastatic cancer site  Hospital where treated  Environmental exposures (eg, sun)
  • 20 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Information to Obtain About Unaffected Relatives  Current age  Health status and history of significant illnesses  Presence of other physical findings associated with syndromes  If deceased, cause of and age at death
  • 21 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute “Female” cancer  Ask about the presenting features  Detected by Pap smear – likely cervical cancer  Diagnosed due to heavy bleeding – likely uterine/endometrial cancer  Bloated (looked 6 months pregnant) – likely ovarian cancer  Ask about the treatment  Hysterectomy but ovaries left behind – probably not ovarian cancer  No chemotherapy – probably NOT ovarian cancer  LEEP procedure or colposcopy – probably cervical dysplasia or cancer
  • 22 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Unknown type of cancer  Request copies of medical records (pathology reports are the key) from the hospital where the relative was treated  If a family member makes the request, there will be a charge for the records  If you physician or genetic counselor makes the request, there will not be a charge for the records  Request death certificates  Can be obtained from the state department of health relatively inexpensively  Can be obtained at www,vitalchek.com from any state – arrive quickly, slightly more expensive
  • 23 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute High Risk Clues:  Cancer in 2 or more close relatives (on same side of family)  Multiple generations affected  Early age at diagnosis  Multiple rare cancers (sebaceous skin cancer)  Multiple primary tumors (colon and uterus; more than one colon cancer)  Multiple colon polyps (>10)  Patients with certain pathology findings  Abnormal IHC or MSI+ testing
  • 24 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute CAUTION
  • 25 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Family History can be unreliable  Many people do not know the details of their family history.  Specific sites of tumors unknown  Ages of onset unknown  Historical information needs to be verified in order to accurately assess risk.  Family size is getting smaller – can “hide” susceptibility  Increased use of effective screening/prevention options (i.e. colonoscopy) can prevent cancers that would have occurred otherwise
  • 26 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Initial pedigree After review of records Stomach Ca Prostate problems Bone Ca d. 48 Breast Ca dx 45 d. 48 Ovarian Ca dx 43, d. 49 Prostate Ca dx 50
  • 27 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Histories are dynamic  With the passage of time, additional diagnoses may have been made.  These changes in diagnosis may affect the likelihood of a hereditary cancer syndrome.
  • 28 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Initial History 2 years later Colon Ca, 50 Colon Ca, 50 Endometrial Ca, 44 Colon polyps, 48
  • 29 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Flowchart for Hereditary Colon Cancer Differential Diagnosis Presence of >10 polyps Type of polyps Lynch syndrome Familial Colorectal Cancer syndrome type X MUTYH-Associated Polyposis Peutz-Jeghers syndrome Juvenile Polyposis Serrated Polyposis syndrome Familial Adenomatous Polyposis Attenuated FAP MUTYH-Associated Polyposis NoYes AdenomatousHamartomatous
  • 30 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Hereditary Cancer Syndromes: Lynch Syndrome & FAP MLH1 PMS2 MSH2 MSH6 APC
  • 31 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Sporadic Inherited • Later age at onset (60s or 70s) • Little or no family history of cancer • Single or unilateral tumors •Early age at onset (<50) •Multiple generations with cancer •Clustering of certain cancers (i.e. breast/ovarian) Normal gene Somatic mutation Somatic mutation Germline mutation Somatic mutation
  • 32 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Autosomal Dominant Inheritance Carrier Parent Non-carrier Parent Aa aa Aa Aa aa aa Carrier Carrier Non-carrier Non-carrier 1/2 1/2
  • 33 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Lynch Syndrome  Early but variable age at CRC diagnosis (~45 years)  Tumor site in proximal colon predominates  Extracolonic cancers: endometrium, ovary, stomach, urinary tract, small bowel, bile ducts, sebaceous skin tumors
  • 34 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Amsterdam II criteria • 3 or more relatives with verified HNPCC- associated cancer in family • Two or more generations • One case a first-degree relative of the other two • One CRC dx <50 • FAP excluded Vasen HFA et al. Gastroenterology. 116:1453, 1999 Does not include ovarian, gastric, brain, biliary tract or pancreatic cancer
  • 35 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Bethesda Guidelines  Individual with CRC dx <50  Individual with synchronous or metachronous CRC, or other HNPCC-associated tumors regardless of age  Individual with CRC with MSI-H histology dx <60  Individual with CRC with >1 FDR with an HNPCC-associated tumor, with one cancer dx <50  Individual with CRC with >2 FDRs or SDRs with an HNPCC-associated tumor, regardless of age Umar A, et al. JNCI. 2004;96(4):261-268.
  • 36 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Lynch Syndrome Cancer Risks (to 70) Cancer Lynch syndrome General Public Colon cancer 56-85% 5% Endometrial cancer 35-60% 2% Gastric cancer 13% 1% Ovarian cancer 12% 1.5% Small bowel, bladder, ureter, renal pelvis, brain <4% each <1% each
  • 37 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Lynch syndrome Surveillance Options Lindor N et al. JAMA 2006;296:1507-17. & Vasen HFA et al. J Med Genet 2007;44:353-62. Intervention Recommendation Colonoscopy Every 1-2 y beginning at age 20-25 (MLH1 & MSH2), or 30 (MSH6 & PMS2) Endometrial sampling Every 1 y beginning at age 30-35 Transvaginal U/S Every 1 y beginning at age 30-35 Urinalysis with cytology Every 1-2 y beginning at age 30-35 History & Exam w/ review of systems Every 1 y beginning at age 21
  • 38 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Case 1
  • 39 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Case 2
  • 40 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Clinical Features of FAP  Estimated penetrance for adenomas >90%  Risk of extracolonic tumors (upper GI, desmoid, osteoma, thyroid, brain, other)  CHRPE may be present  Untreated polyposis leads to 100% risk of cancer
  • 41 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute
  • 42 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute
  • 43 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Attenuated FAP l Later onset (CRC ~age 50) l Few colonic adenomas l Not associated with CHRPE l UGI lesions l Associated with mutations at 5' and 3' ends of APC gene
  • 44 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute MUTYH-Associated Polyposis (MAP)  Recessive inheritance – carrier frequency high  Biallelic MYH mutations are found in:  96/1457 (6.6%) patients with >100 adenomas  233/3253 (7%) patients with 20-99 adenomas  37/970 (4%) patients with 10-19 adenomas  19/1147 (2%) patients with <10 adenomas  Y165C & G382D common in W.E. Caucasians  E466X in Eastern Indian families Grover S et al. JAMA 2012;308:485-92.
  • 45 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute MUTYH-Associated Polyposis (MAP)  MYH mutations in CRC dx <50  8/1116 (0.7%) +  12/1238 (1%) +  4/64 (6.3%) +  Heterozygote risk  14/259 heterozygotes had adenomas vs 2/107 controls  2/50 obligate carrier parents had CRC – Expected  If there is a cancer risk for heterozygotes – LOW Wang L et al. Gastroenterology 2004;127:9-16; Croitoru S et al. J Natl Cancer Inst 2004;96:1631-4. Balaguer et al. Clin Gastroenterol Hepatol 2007;5:379-87
  • 46 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute MAP Management  Colonoscopy every 2-3 y begin at 25-30 if negative for polyps  Once polyps are found, colonoscopy and polypectomy every 1-2 y  Subtotal colectomy or proctocolectomy depending on adenoma density and distribution  Consider UGI endoscopy and side viewing duodenoscopy begin at 30-35 and repeat depending on findings  Annual physical examination NCCN Guidelines for Colorectal Cancer Screening 2.2014
  • 47 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Who to test for FAP & MAP?  APC testing criteria  Personal history of >10 adenomas  Personal history of a desmoid tumor  Known APC mutation in family  MUTYH testing criteria  Personal history of >10 adenomas  Individual meeting SPS criteria with some adenomas  Known MUTYH mutations in family  Start testing with affected relative if possible  If affected relative is deceased, can test at-risk relative but negative result is uninformative  Can test minors because cancer screening starts in childhood NCCN Guidelines for Colorectal Cancer Screening 2.2014
  • 48 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Moderate Risk Families  1-2 cases of a cancer in the family  Do not need referral for genetic counseling  Do need increased cancer surveillance  Generally the first degree relatives of a person with a cancer are about twice as likely to develop that same cancer than someone without that family history
  • 49 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute
  • 50 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Familial Colorectal Cancer Risks Taylor, DP, Gastroenterology 2010;138:877-886.
  • 51 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Familial Colorectal Cancer Screening Recommendations  FDR diagnosed <50 or 2 FDR dx at any age  Colonoscopy every 3-5 years beginning at age 40 (or 10 years before earliest dx of CRC  FDR diagnosed >50  Colonoscopy every 5 years beginning at age 50 (or 10 years before earliest dx of CRC  SDR diagnosed <50  Colonoscopy beginning at age 50 repeat depending on findings  FDR with advanced adenoma(s)  Colonoscopy beginning at age 50 or age of onset repeat depending on findings  Otherwise follow Average Risk recommendations  Colonoscopy every 10 years beginning at age 50
  • 52 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Family Healthlink  Interactive web tool that estimates risk by reviewing patterns of cancer and heart disease and related conditions in a family  10-15 min depending on the size of the family  No pedigree to view; no updating  Personalized risk assessment (pdf) to share with healthcare providers https://familyhealthlink.osumc.edu
  • 53 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Genetic Counseling
  • 54 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Genetic Counseling: Purpose  Appreciate the way heredity contributes to cancer  Understand an individual’s risk of developing cancer  Understand the options for dealing with an increased risk for cancer  Choose a course of action for managing cancer risk that seems personally appropriate (genetic testing, screening or long-term follow up)
  • 55 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Genetic Counseling: What happens  Collection of personal and family history  3 generation pedigree  Education and risk assessment  Options for genetic testing and medical management  Discussion of risks, benefits and limitations  Screening/Chemoprevention/Prophylaxis  Follow-up  Provide psychosocial support  Family members
  • 56 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Genetic Testing: Purpose  If the exact gene mutation can be identified in a family, it can:  Diagnose the family with a specific cancer syndrome  Determine for which cancers the family is at risk  Determine a cancer surveillance & prevention plan  Allow at-risk family members to be tested inexpensively and reliably  Relatives who inherit the mutation need to follow the increased cancer surveillance & prevention plan  Relatives who do NOT inherit the mutation can follow the American Cancer Society guidelines for cancer screening in the general population  50 colonoscopies versus 3 colonoscopies
  • 57 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Genetic Testing: What happens  Testing is most accurate when you begin by testing a family member who has had cancer (or polyps)  If they test positive, the family has a diagnosis and a known mutation for follow-up testing  If they test negative, the family history may or may not still be hereditary but there is no known mutation for follow-up testing  Many sites will start Lynch syndrome testing with a screening test on the colon or endometrial tumor  Stored in a wax block at the hospital where you had surgery  Genetic Testing is done using either a blood sample or a saliva/mouthwash sample
  • 58 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Genetic Testing: What happens  Costs:  Tumor screening tests $500-$1500  Genetic testing $1500/gene or $1500-4500/all genes  Known mutation testing $200 - $500  Results:  Can take anywhere from 2-12 weeks  May be given by telephone or in the setting of post- test genetic counseling depending on center
  • 59 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Genetic Testing: Informed Consent  Benefits  Know reason for cancers in family  Ability to determine who is and who is not at risk  Ability to be screened appropriately  Limitations  Variants of Uncertain Significance  Genes that have not been discovered yet  Risks  Bruise from blood draw  Psychological risks (guilt from passing gene onto children, adjustment to testing positive, survival guilt when testing negative)  Insurance discrimination
  • 60 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute GINA  Prevents health insurers from denying coverage, adjusting premiums, or otherwise discriminating on the basis of genetic information.  Group and self-insured policies  Insurers may not request that an individual undergo a genetic test.  Employers cannot use genetic information to make hiring, firing, compensation, or promotion decisions.  Sharply limits a health insurer's or employer's right to request, require, or purchase someone's genetic information.
  • 61 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Refer to an cancer genetic counselor near you  Find a Local Counselor from the NSGC http://nsgc.org/p/cm/ld/fid=164  Find a Local Cancer Genetics expert from the NCI http://www.cancer.gov/cancertopics/genetics/directory Refer to a national telecounseling service  Informed DNA at http://www.InformedDNA.com  1-800-975-4819 How to find a genetic counselor near you Heather Hampel
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  • Contact Us Fight Colorectal Cancer 1414 Prince Street, Suite 204 Alexandria, VA 22314 (703) 548-1225 Resource Line: 1-877-427-2111 www.FightColorectalCancer.org facebook.com/FightCRC twitter.com/FightCRC youtube.com/FightCRC pinterest.com/FightCRC
  • 64 The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute Resources  Heather Hampel  614-293-7240  Heather.Hampel@osumc.edu  Family HealthLink  https://familyhealthlink.osumc .edu  Free, on-line tool that assesses family history of cancer and cardiovascular disease