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Genetic Testing


The Hereditary Cancer Program at the Siteman Cancer Center offers clinical genetic assessment to people who have a family history of cancer to assess their cancer risks and identify appropriate family-based medical management. The program includes a medical geneticist and four genetic counselors. This team sees over 150 families a year, many of whom are referred by their own primary care physicians. At Siteman , comprehensive genetics evaluations are initated to identify personalized risks for developing cancer with a hereditary tendency. Based on the findings of individualized evaluations, potential need for genetic testing, surveillance, and medical care options are reviewed with patients and appropriate family members, as necessary. Hereditary Cancer Program members are very actively engaged in research occurring at the Siteman Cancer Center to better understand the specific mutations in genes that control cell growth and the repair of damaged genes. Studies of genes that play a role in the more common cancers are also underway.


Washington University School of Medicine

St. Louis, MO

Program Director

Alison Whelan, MD

Professor of Medicine

Medical Genetics

Schedule Appointments

Hereditary Cancer Program - 314.454.6093

Intake Process

Community and Physician Awareness

Information about the Siteman Cancer Center Hereditary Cancer Program can be found on the Siteman Cancer Center website at www.siteman.wustl.edu/genetics.aspx. The program director and genetic counselors are involved with community education by providing lectures on a variety of topics designed to raise the awareness of cancer genetic issues. Faculty members are also sought for participation in regional tumor board reviews and physician continuing medical education program participation.

Identify Eligible Subjects/

Patients are referred to the program either by physicians or by self-referral. Appointments are scheduled by calling 314.454.6093. Patient referral types include:

· Individuals interested in genetics assessment

· Patients with multiple primary tumors

· Known family history of cancers usually associated with a susceptibility syndrome

· The development of cancer at an unsually young age compared to the usual cancer incidence for that disease

· Individuals of ethnic groups in which cancer predisposition gene mutations occur more commonly

Pre-Test Counseling and Risk Assessment

Prior to the patient's first visit, the patient is required to complete a three-generation family history. This information is used to complete the genetic assessment. A genetic counselor is available to assist in the completion of this information.

Informed Consent Procedures

Informed consent is obtained for all genetic testing, and the limitations and benefits of testing are discussed. The specific type of test to be completed, the cost of the tests, possible test results, and the implications of these results are reviewed with the individual. Written consent is obtained prior to testing.


Confidentiality Standards

Privacy is maintained in accordance with institutional guidelines. No patient files are coded. Information obtained is kept in a secure medical record. Any information regarding genetic testing cannot be released without the written consent of the individual.


Genetic testing is coordinated and sent to in-house and outside institutions that are CAP/CLIA approved.

Available Testing at or Through Siteman Cancer Center

Cancer/Syndrome Gene

Breast & Ovarian Cancer BRCA1, BRCA2
Familial Adenomatous Polyposis APC

MYH-associated Polyposis MYH

Hereditary Nonpolyposis Colorectal
Cancer MLH1, MSH2, MSH3, MSH6, PMS2

Familial Colon Cancer in
Ashkenazi Jewish Population APC I1307K

Li-Fraumeni Syndrome p53, CHK2

Familial Melanoma p16

Multiple Endocrine Neoplasias RET, MEN1

Neurofibromatosis Type 1 NF1

Neurofibromatosis Type 2 NF2

Retinoblastoma RB1

von Hippel-Lindau VHL

Hereditary Diffuse Gastric
Cancer Syndrome E-cadherin

Peutz-Jeghers Syndrome STK11

Bloom Syndrome BLM

Hereditary Paragaglioma Syndrome SDHB, SDHD

Juvenile Polyposis BMPR1A, SMAD4

Hereditary Pancreateic Cancer BRCA2, CDKN2A

Nevoid Basal Cell Carcinoma PTCH

Cowden Syndrome Pten

Hereditary Papillary Renal Cancer c-met, FH gene

Birt-Hogg-Dubé Syndrome FLCN

Dyskeratosis Congenita DKC1, TERC

Fanconi Anemia

Pleuropulmonary Blastomas (PBB)                            Dicer1

Test Result Interpretation

A board-certified clinical genetist interprets the results. Cancer risk information is communicated to patients and family members through an out-patient appointment with the genetist and genetic counselor.

Post-Test Counseling and Follow-Up

Post-Test Counseling

Post-test counseling is conducted during an outpatient visit with the genetist and genetic counselor. Counseling includes a thorough review of the test results received and the appropriate follow-up that should be considered based on test results. If testing is recommended among other family members, this is also discussed. Individuals who may be in need of psychological or support services following this process may be referred to the Siteman Cancer Center Psychosocial Service. The discussion that occurred during this visit is prepared in a letter and sent to the individual following the appointment.

Cancer Screening

Appropriate follow-up surveillance recommendations are provided during the genetic assessment visit and through a follow-up letter.

Medical and Surgical Management

Advice regarding medical and surgical management is dependent on the family cancer history and any lab results.

Psychological & Supportive Services

Referrals are provided to appropriate support groups at the Siteman Cancer Center and within the community, as needed. The Siteman Cancer Center has psychologists available for appropriate psychosocial support and counseling. In addition, the center supports a component of a psychiatric consultation service to benefit patients at risk for depression.


Identifying New Genes

Washington University School of Medicine was instrumental in the identification of the RET gene responsible for an inherited cancer syndrome called multiple endocrine neolplasia type 2, of MEN2. When mutated, this gene causes tumors in the thyroid gland and other endocrine glands. A successful test for the presence of this gene mutation was established, and now patients at risk for this mutation can benfit from thyroid removal to prevent the occurance of thyroid cancer.

Studies of genes that play a role in more commmon cancers are also underway. Research is currently occurring in the following areas:

· Breast cancer in young women is a special interest of genetic research and programming at the Siteman Cancer Center.

· Pleuropulmonary Blastoma familial cancer syndrome

· Nervous system tumors, particularly the disorders of neurofibromatosis 1 and 2

· Endometrial (uterine) cancer

· Childhood cancer predisposition syndromes

· Colorectal cancer predisposition syndromes