Collection of a Cancer Family History

Collection of a cancer family history is crucial to the identification of those individuals who have an inherited predisposition to malignancy or who are at increased risk for additional primary cancers. The goal of the cancer family history is to provide enough information to make a preliminary determination of the risk of a familial predisposition and to develop a preliminary management plan.

The cancer family history should be taken at the first visit with the oncology provider and should be updated periodically. ASCO recommends the minimum adequate family history for cancer patients be defined as family history of cancer in first- and second-degree relatives. First-degree relatives are parents, children, and full siblings; second-degree relatives are grandparents, aunts/uncles, nieces/nephews, grandchildren, and half-siblings. For each relative with cancer, ASCO recommends the following be recorded:

• Type of primary cancer(s)

• Age at diagnosis of each primary cancer

• Lineage (maternal or paternal)
  Patients should be asked if there is a known hereditary cancer predisposition syndrome, prior genetic testing, and for any information regarding ethnicity that may be relevant. Patients with cancer should be specifically asked if they have any Jewish ancestry on either the maternal or paternal side, and if so, a much lower threshold for testing should be adopted. Exploring both maternal and paternal lineage is important, as genetic predisposition can be transmitted from either side of the family.

See Also: ASCO Statement on Family History Taking in the Oncology Setting (2014)

Additional Tools for Collecting Family History:

• American Medical Association (AMA) Collecting a Family History. Provides downloadable prenatal and pediatric family history forms from the AMA, as well as other family history resources. 

• U.S. Surgeon General's My Family Health Portrait. An online tool that patients can use to build and share a medical family history.

• Genetic Alliance Does It Run in the Family? A Family History Tool. Customizable booklets about family history for a patient or community. 

• Centers for Disease Control Gather and Share Your Family Health History. Contains information about the benefits of family history and what to collect.

• National Society of Genetic Counselors: Understanding and Collecting your Family History. Provides information about how to collect a family health history.

Guidelines on Hereditary Risk Assessment & Management 

Breast and Ovarian Cancer

• American Congress of Obstetrics and Gynecology Guidelines for Managing Hereditary Breast and Ovarian Cancer Syndrome (2009)

• NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment, Breast and Ovarian Cancer (2016)

• Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer: Recommendations of the National Society of Genetic Counselors (2007)

• Society of Gynecologic Oncology Statement on Risk Assessment for Inherited Gynecologic Cancer Predispositions (2015)

• Society of Gynecologic Oncology Clinical Practice Statement: Genetic Testing for Ovarian Cancer (2014)

• Society of Gynecologic Oncology White Paper on Ovarian Cancer: Etiology, Screening and Surveillance (2010)

• US Preventive Services Task Force: Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Recommendation Statement (2015)

Gastrointestinal Cancers

• American College of Gastroenterology Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes (2015)

• American Gastroenterological Association Medical Position Statement: Hereditary Colorectal Cancer and Genetic Testing (2001)

• Guidelines on Genetic Evaluation and Management of Lynch Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer (2014)

• Hereditary Colorectal Cancer Syndromes: American Society of Clinical Oncology Clinical Practice Guideline Endorsement of the Familial Risk–Colorectal Cancer: European Society for Medical Oncology Clinical Practice Guideline (2015)

• Hereditary Diffuse Gastric Cancer: Updated Clinical Guidelines with an Emphasis on Germline CDH1 Mutation Carriers 2015

• Identification of Individuals at Risk for Lynch Syndrome Using Targeted Evaluations and Genetic Testing: Recommendations of the National Society of Genetic Counselors and Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline (2011)

• NCCN Guidelines for Genetic/Familial High-Risk Assessment: Colorectal (2015)

• Society for Gynecologic Oncology Practice Bulletin: Lynch Syndrome (2014)

• Society of Gynecologic Oncology Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer (2014)

• PREMM5 Lynch Syndrom Prediction Model: MLH1, MSH2, MSH6, PMS2 and EPCAM gene mutations

Other Topics

Counseling

• Cancer Genetics Studies Consortium (CGSC) Task Force on Informed Consent: Genetic Testing for Susceptibility to Adult-Onset Cancer: The Process and Content of Informed Consent (1997)

• Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors (2012)

• Referral Indications for Cancer Predisposition Assessment: Joint Practice Guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors (2014)

• American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility (See Table 1: Components of Informed Consent) (2015)

Medullary Thyroid Cancer

• European Thyroid Association Guidelines for Genetic Testing and Its Clinical Consequences in Medullary Thyroid Cancer (2012)

• Revised American Thyroid Association Guidelines for the Management of Medullary Thyroid Cancer (2015)

von Hippel-Lindau Syndrome

• VHL Alliance: von Hippel-Lindau Syndrome Suggested Active Surveillance Guidelines (2020)

• VHL National Clinical Guideline for Screening and Surveillance in Denmark 3^rd Edition (2013)

Content Last Reviewed January 2021

The ideas and opinions expressed here do not necessarily reflect the opinions of the American Society of Clinical Oncology (ASCO). The mention of any product, service, or therapy herein should not be construed as an endorsement of the products mentioned. The information herein should not be relied on as being complete or accurate, nor should it be considered as inclusive of all proper treatments or methods of care or as a statement of the standard of care. The information is not continually updated and may not reflect the most recent evidence. The information addresses only the topics specifically identified therein and is not applicable to other interventions, diseases, or stages of diseases. This information does not mandate any particular course of medical care. Furthermore, the information is not intended to substitute for the independent professional judgment of the treating provider, because the information does not account for individual variation among patients. Use of the information is voluntary. ASCO provides this information on an as-is basis and makes no warranty, express or implied, regarding the information. ASCO specifically disclaims any warranties of merchantability or fitness for a particular use or purpose. Links to third party websites are provided for your convenience, and ASCO does not endorse and is not responsible for any content, advertising or other material available from such sites. ASCO assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of this information or for any errors or omissions.