National Comprehensive Cancer Network

Family Cancer Risk Service

Vanderbilt-Ingram Cancer Center

1500 21^st Ave S, Suite 2900 Village at Vanderbilt

Nashville, TN 37212

Susan W. Caro, RNC, MSN, APNG

Director, Family Cancer Risk Service

Contact: 615.343.0738 toll free: 877.688.7555

The Family Cancer Risk Service provides community and professional educational programs, including continuing education activities and participation in tumor boards, grand rounds, and medical or nursing school lectures. Our cancer risk counselors are available to provide educational programs to any group, professional or community that has an interest in hereditary cancer. Information can also be obtained from our website: http://vicc.org/fcrs

We are happy to meet with anyone who has concerns about their risk of cancer. That may include those with a significant personal or family history of cancer, or concerns about specific risk factors and cancer. Some of the features seen in families appropriate for referral include:

• clustering of certain types of cancers in a family
• cancer occurring at younger ages than expected
• cancer in several close relatives
• cancer in more than one generation
• more than one type of cancer in the same individual
• families that include diagnoses of rare cancers

The Family Cancer Risk Service of the Vanderbilt-Ingram Cancer Center can help individuals and families improve their understanding of their cancer risks and the available options for cancer screening, cancer risk reduction, and genetic testing.

For breast cancer families appropriate patients for consultation may include:

· breast cancer diagnosed before age 40

· bilateral breast cancer or breast and ovarian cancer

· family history of more than one breast cancer or breast cancer and ovarian cancer in the family

· male relatives with breast cancer

· Ashkenazi Jewish or Eastern European heritage and family history of breast or ovarian cancer

· Known mutation in breast cancer susceptibility gene in the family

For hereditary colorectal cancer concerns:

· Personal or family history of colon or rectal cancer or polyps before age 50

· Close relative diagnosed with colon cancer more than once (separate cancers, diagnosed at the same or different times)

· Personal or family history of colon cancer and uterine or ovarian cancer

· Personal or family history of multiple colon polyps

· Known mutation in cancer susceptibility gene in the family

Other cancers that may warrant referral:

· Medullary thyroid cancer

· Multiple endocrine (glandular) tumors

· Pheochromocytoma

· Hemangiomas

· Any clustering of cancers in the family

Patients can refer themselves to our service simply by calling the numbers provided.

The first contact with the FCRS is by phone or in the clinic or hospital. Initially, we will answer questions you may have about the service and ask for some preliminary information regarding your family history. Information will then be sent to facilitate the collection of family/medical history prior to your first visit. The first visit usually lasts 2 hours and subsequent visits are shorter. During these visits:

· medical and family histories will be obtained and a detailed family tree (pedigree) will be created

· provide background information on cancer, cancer genetics, risk, and related topics

· an individualized cancer risk assessment will be provided, based on analysis of collected information

· Information about specific syndromes under consideration is reviewed with the patient/family including inheritance pattern, cancer risks, availability of genetic testing

· when appropriate, the option of genetic testing will be addressed, and if the patient elects to pursue genetic testing the FCRS will facilitate that for them

· when the results of genetic testing are available, a plan for reviewing results is made, either by phone of in person

· patients may be referred for participation in research relating to their specific condition

· strategies and options for cancer screening and risk reduction will be discussed, along with corresponding benefits, risks, and limitations. when indicated, the service can facilitate appropriate appointments with medical specialists

To facilitate a more accurate cancer risk evaluation, we will ask patients to collect family history information prior to their appointment. Important information includes:

• Who in the family has been diagnosed with cancer?
• Where their cancer(s) started (e.g. breast, colon), what type, and if it was present on both sides (for example, in both breasts or both ovaries) or in more than one place
• How old they were when diagnosed with cancer (for each different cancer)
• Whether anyone in the family has undergone genetic testing

Documentation of cancer diagnoses is an important part of the cancer risk assessment. Whenever possible, pathology records should be obtained for members of the family who have had cancer or suspected cancer. (In some cases, other medical records, death certificates, pathology specimens, etc. can be helpful.)

The consultation process provides many aspects of informed consent. When testing is planned, we utilize consents provided by testing facilities or our own consent for genetic testing.

We maintain confidential patient charts and consultation notes are placed in the electronic medical record of the institution. The institution standards for confidentiality and privacy are in place.

The majority of testing is facilitated through outside laboratories. Microsatellite instability is testing is now available through Vanderbilt Medical Center laboratories.

Cancer/Syndrome Gene

Breast & Ovarian Cancer BRCA1 & BRCA2, CHEK2,

Familial Adenomatous Polyposis APC, MYH

Hereditary Nonpolyposis Colon Cancer MLH, MSH2, MSH6

Li-Fraumeni p53

Familial Melanoma p16, CDKN4

Von Hippel-Lindau VHL

MEN syndromes RET, MEN

Hereditary Paraganglioma Syndromes SDHX

Hereditary diffuse gastric cancer CDH1

The Family Cancer Risk Service genetics nurse specialists review and interpret test results in consultation with the appropriate medical specialist (endocrinologist, endocrine surgeon, medical oncologist, gynecologic oncologist, surgical oncologist, etc). We review cancer risks indicated by the test results, and discuss options for decreasing risk or increasing surveillance for those with increased risk of cancer. Facilitation of clinical follow up and consultation is available as well as participation in research

At the initial consultation arrangements are made to plan the method of notifying patient of results. If "in person" notification is planned, an appointment is scheduled in advance. For some patients a phone conversation with initial results is planned with a follow up face-to-face conversation encouraged (as many patients live far away). Cancer risks, family implications, and surveillance plans are reviewed at that time.

We encourage patients to re-contact the service every few years to review/update family history and to address any new issues that may be relevant to the family.

Vanderbilt-Ingram Cancer Center's Breast Center has a high risk screening clinic and the availability of MRI screening for women at increased risk of developing breast cancer. There is a high risk colorectal cancer clinic and a newly formed colorectal cancer registry (see below) to aid in ongoing surveillance of high risk colorectal cancer families.

Our surgical oncology and plastic surgery team offer risk reducing mastectomy and reconstruction for women at high risk of breast cancer. Gynecologic oncology offers risk reducing salpingo-oophorectomy for those appropriate. Colorectal surgeons offer ongoing surveillance and risk reducing colectomy (including laparoscopic colectomy). Our medical oncology team offers appropriate risk reducing medical options for those appropriate.

When appropriate, cases are reviewed with a multidisciplinary team of individuals and difficult cases are presented in a multidisciplinary high risk tumor board setting.

Ms. Caro is an Advanced Practice Nurse in Genetics, credentialed by the International Society of Nurses in Genetics in 2001. She attends annual national/international conferences focusing on hereditary cancer syndromes.

Ms. Kate McReynolds, MSc, RN received her training in the UK. Kate is certified in Oncology and Gynecology Nursing and has a post-graduate qualification in Cancer Genetics from the Institute of Cancer Research, London. Both have many years of experience in providing cancer genetics care.

Nashville TN

Paul Wise, MD

615.322.1590

Toll free: 800.340.7752

The mission of the Vanderbilt Hereditary Colorectal Cancer Registry is to identify patients at risk for hereditary colorectal cancer and provide counseling, education, screening and surveillance recommendations to both the public and medical community through seminars, health fairs, physician education, print media, and web based information. Patients may be self referred or be referred by their physician. Information regarding the Vanderbilt Hereditary Colorectal Cancer Registry may be viewed at www.vanderbiltcolorectal.com

Anyone with questions regarding familial hereditary colorectal cancer is encouraged to call the registry. The Registry enrolls those whose personal or family history exhibit the following;

· Personal history of colorectal or an associated* cancer 50 years or younger or multiple cancers.

· Personal history of multiple polyps

· Family history of polyposis

· Family history of colorectal or associated* cancer at any age

· *associated cancers include stomach, endometrial/uterine, ovarian, renal, small intestine, brain, pancreas.

Genetic testing for hereditary colorectal cancer is available and encouraged.

Patients wishing to enroll in the Registry sign an informed consent.

Confidentiality conforms to HIPPA standards. All information obtained is kept in confidential patient charts and a locked database.

See below

· Testing for Hereditary Nonpolyposis Colorectal Cancer

· Microsatellite Instability

· Immunohistochemistry

· Sequencing of mismatch repair genes

· Familial Adenomatous Polyposis

Genetic test results are reviewed by the director of the Registry in consultation with genetic counselors, geneticists, and other medial and surgical specialties as indicated. Medical, surgical, and screening and surveillance options are discussed with the patient.

Genetic test results, implications, recommendations and referrals are done in a follow up visit.

Patients may elect to have reminder letters regarding appropriate screening and surveillance sent to them.

Risk reduction surgery and medical management is discussed with those patients who have high risk conditions by the appropriate specialty.

Paul E. Wise, MD, Assistant Professor of Surgery at Vanderbilt and an American Board of Colon and Rectal Surgery certified Colon and Rectal surgeon, is the medical director for the Vanderbilt Hereditary Colorectal Cancer Registry.

Duveen Sturgeon is a Registered Nurse with a special interest in cancer genetics. Duveen completed her nursing education in Canada and attended cancer genetic programs at City of Hope in California and Fox Chase Comprehensive Cancer Center in Pennsylvania. Duveen is the Program Coordinator for the Vanderbilt Hereditary Colorectal Cancer Registry.