Hereditary Breast & Ovarian Cancer Program

Result Interpretation Table

Result Positive Patients Clinical Status
With or without cancer

Interpretation
Patient at high risk for breast, ovarian and other HBOC-related cancers True Negative Patient did not inherit the family mutation Patient at general population risk for cancer Patient did not inherit the family mutation Patients cancer is coincidental Future cancer risks are based on personal history Patient at high risk for breast, ovarian and other HBOC-related cancers Uninformative Negative Cannot reduce patients risk for breast and ovarian cancer Risk assessment is based on family history Uninformative Negative Cannot reduce patients risk for breast and ovarian cancer Risk assessment is based on personal and family history Uninformative Cannot reduce patients risk for breast and ovarian cancer Risk assessment is based on personal and family history

Management
Follow NCCN guidelines for high risk surveillance and risk reduction

At-risk Relatives
Offer single-site testing to first-degree relatives. When testing declined, treat as high-risk for surveillance Offspring at general population risk for breast cancer Offspring not at risk for BRCA1/2 mutation Cancer risk is increased above background Offer single-site testing to first-degree relatives. When testing declined, treat as high-risk for surveillance Testing for at-risk relatives not available.

Family Mutation Known Negative

Never had cancer

General population guidelines apply

Personal history of cancer

Surveillance and risk reduction interventions based on personal history Follow NCCN guidelines for high risk surveillance and risk reduction

Positive

With or without cancer

Never had cancer

Surveillance and risk reduction based on family cancer history

Unknown Family Mutation

Negative
Personal history of cancer

Surveillance and risk reduction based on personal and family cancer history

Testing for at-risk relatives not available. Treat close relatives as high-risk for surveillance. Testing for at-risk relatives not available. Treat close relatives as high-risk for surveillance.

VUS

With or without cancer

Surveillance and risk reduction based on personal and family cancer history

Published September 2013 NCHPEG All rights reserved