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Genetic Testing


The UCSF Helen Diller Family Comprehensive Cancer Center operates a Cancer Risk Assessment Program (CRP) that provides genetic counseling, risk assessment, and genetic testing for individuals from families with a high risk of heritable cancer. The Cancer Risk Program is composed of five individual clinics and a consult service to provide comprehensive care for hereditary cancers across all organ systems:

· The Breast Cancer Prevention Clinic within the Carol Franc Buck Breast Care Center.

· The Familial Gynecologic Cancer Clinic within the Gynecologic Oncology Department.

· The Familial Gastrointestinal Genetics Clinic within the Department of Medicine.

· The Familial Melanoma Clinic within the Department of Dermatology.

· The Familial Prostate Cancer Clinic within the Department of Urology.

The CRP's main focus is on breast/ovarian cancer syndromes, colorectal cancer (hereditary non-polyposis colorectal cancer, or HNPCC), and related malignancies. The multidisciplinary consultation service provides genetic counseling and risk assessment to cancer patients whose families exhibit the characteristics of hereditary cancer. This includes recommendations for genetic counseling and risk assessment for individuals at high risk in these families. The Cancer Risk Assessment team includes individuals trained in oncology, gastroenterology, genetics, epidemiology, urology, dermatology, genetic counseling, and nursing.


UCSF Medical Center/Mt. Zion, San Francisco CA

Research Director

Jane McLennan, MD, PhD

Physician Consultants

Mary Beattie, MD; Jeffrey Tice, MD; Lee-may Chen, MD; Mindy Goldman, MD; Laura Esserman, MD, MBA; Peter Carroll, MD; Hope Rugo, MD; Shelley Hwang, MD; Judith Luce, MD; Marc Shuman, MD; Robert Nussbaum, MD

Genetic Counselors

Beth Crawford, MS (Director of Clinical Services)

Amie Blanco, MS, CGC

Peggy Conrad, MS, CGC

Kate Lamvik, MS

Robin Lee, MS, CGC

Julie Mak, MS, CGC

Nicola Stewart, MS, CGC

To schedule appointments


The components of the comprehensive services provided by the Cancer Risk Team include:

Intake Process

Physician and Community Awareness

A free monthly education session is offered to the public at the Cancer Center by a genetic counselor. This session is devoted specifically to community education and outreach about heritable susceptibility to cancer. In addition, the counseling and physician team hold regular training and education seminars for health care professionals in the Bay area. The Medical Genetics fellowship course, seminar, and conference structure includes information about cancer genetics and related topics.

Patient Education

Individuals from families with a strong history of cancer may wish to learn more about their individual risk for cancer and about the potential risk to other family members, including offspring. Generally, heritable susceptibility to cancer is suspected when cancer occurs at young ages and in more than one generation. It is more common in these families for family members to be diagnosed with more than one type of cancer. Questionnaires detailing the patient's personal and family medical history are sent at the time of scheduling and are asked to be returned prior to their scheduled appointment for the most accurate consultation.

For new clients, counselors take a detailed family history and educate the client about hereditary cancer, gene mutations, and cancer susceptibility for family members. If the family cancer history has an hereditary pattern, medical records are requested to confirm the cancer diagnoses and a second appointment is arranged to discuss genetic testing. Financial arrangements (insurance coverage or private payment) and confidentiality provisions are an important part of the intake process.


Patients are referred by both physicians within the UCSF Medical Center and Cancer Center as well as community physicians. Referring physicians have a variety of backgrounds, including oncology, surgery, gynecology, internal medicine, dermatology, and gastroenterology. A large number of patients are self-referred because of a strong family cancer history. Physicians or patients can access the Cancer Genetic Risk Assessment Services by calling the scheduling number.

Identifying Eligible Subjects

Individuals who may benefit from a referral include those with family members with multiple primary cancers, cancer with an unusually young age of onset, or a clustering of rare or unusual cancers in the family. Referrals also include individuals with cancers occurring in association with a known genetic condition such as:

· Neurofibromatosis, Fanconi Anemia, and Tuberous Sclerosis

· Any known cancer susceptibility syndrome, such as:

o Lynch Syndrome (Hereditary Non-polyposis Colorectal Cancer)

o Familial Adenomatous Polyposis

o Hereditary Breast-Ovarian Cancer Syndrome

o Li-Fraumeni Syndrome

o von Hippel-Lindau Syndrome

o Multiple Endocrine Neoplasia

o Familial Melanoma

Pre-test Counseling and Risk Assessment

This visit includes:

· A detailed analysis and evaluation of the family medical history

· A discussion of the specific hereditary cancer syndromes

· An assessment of the patient's cancer risk based on their family and/or personal history of cancer using several statistical models

· Tailored recommendations for appropriate screening, prevention, and early detection

· Cases are reviewed by a multidisciplinary team of physicians and genetic counselors at a weekly Cancer Genetics Tumor Board

Informed Consent Procedures

Patients who elect to proceed with genetic testing for cancer susceptibility will be required to sign a consent form approved by the UCSF IRB.


Confidentiality Standards

The Cancer Risk Program maintains strict confidentiality.. For those patients that are seen in the Breast and Ovarian or Colorectal Clinics of the Cancer Risk Program and elect testing, the results of their genetic tests will be kept in a separate and confidential file. Genetic testing results and documentation of a consultation will be disclosed to a third party only with the written consent of the patient.


For those patients electing genetic testing for cancer susceptibilities, in most cases the sample is sent for testing to a licensed, CLIA approved commercial laboratory. Testing for the three common mutations in BRCA 1 and 2 is available at the UCSF Molecular Diagnostic Laboratory.

Available Testing at or Through UCSF Comprehensive Cancer Center

Cancer/Syndrome Gene

Breast and Ovarian Cancer* BRCA1 & BRCA2

Familial Adenomatous Polyposis APC

Hereditary Nonpolyposis Colon Cancer** hMLH1 & hMSH2

Hereditary Melanoma CDKN2A

Li Fraumeni p53

*For clients of Jewish ancestry, testing may be limited to the three founder mutations; full sequencing is used for all others.

**Clients may undergo screening of a colorectal tumor for microsatellite instability (a marker of missense repair gene mutations). If high-level MSI is detected, sequencing is undertaken.

Test Result Interpretation

The test result is interpreted by the physician and genetic counselor involved with the patient's consultation. The result is interpreted based on the findings of the laboratory, published information about the mutation and condition, and the patient's personal and family history. A letter summarizing the details of our consultation and our recommendations is sent to the patients for their records and to the referring physician.

Post-Test Counseling and Follow-Up

Post-test Counseling

The test result is usually available in two to four weeks, and an individual appointment with the counselor is devoted to interpreting the result. Clients are given guidelines for further medical surveillance, and consult with a trained physician to learn about prevention options.

Medical and Surgical Management

Patients may be referred to the UCSF Carol Frank Buck Breast Care Center, the Familial Gynecologic Cancer Clinic, and the Melanoma Prevention Clinic where they are offered a myriad of surveillance and treatment options, including the opportunity to enroll in clinical prevention trials, if eligible.


All patients in the Program are asked to read and sign an informed consent, approved by the UCSF Human Subjects Review Committee. In addition to routine surveillance recommendations, several research programs at the UCSF Helen Diller Family Comprehensive Cancer Center address issues for high-risk patients. In addition to offering clinical genetic counseling/testing services, the Cancer Center includes a Familial Cancer Risk Core that provides researchers with access to a database of genotyped probands (hereditary breast/ovarian/colorectal cancer) and clinical specimens with correlative epidemiologic data.