Hereditary Cancer Risk

Causes & Risk Factors

Hereditary cancer risk assessment is considered based on specific personal and family history patterns, rather than any current symptom:

•  Multiple family members affected by the same or related cancers, particularly across generations

•  Cancer diagnosed at an unusually young age within the family

•  One individual affected by multiple, separate primary cancers

•  A known familial pathogenic variant already identified in a relative

•  Certain rare cancer types or combinations strongly associated with hereditary syndromes

•  Ancestry associated with higher carrier frequency for specific hereditary cancer genes

Symptoms & When to Test

By definition, hereditary cancer risk testing is performed before or independent of a current cancer diagnosis in many cases — it identifies risk, not present disease.

•  No symptoms are expected from carrying a hereditary cancer predisposition variant itself

•  The relevant "signal" prompting testing is typically family or personal cancer history, not a physical symptom

•  Some individuals pursue testing after their own cancer diagnosis, when the pattern of diagnosis (young age, multiple primaries) raises suspicion of an inherited cause

When Should You Consider Testing?

Testing is generally considered when there is a strong family history of cancer (particularly breast, ovarian, colorectal, or related cancers across multiple relatives or generations), cancer diagnosed at a young age, multiple primary cancers in one individual, or a known familial genetic variant.

Why Tests Are Combined

Hereditary cancer syndromes often overlap in the cancers they cause — for example, BRCA1/BRCA2 variants are associated with both breast and ovarian cancer risk, while Lynch syndrome genes (MLH1, MSH2, MSH6, PMS2, EPCAM) are associated with colorectal, endometrial, and other cancers — which is why panel testing covering multiple relevant genes is generally more informative than testing a single gene based on one specific cancer type in the family.

Testing a multi-gene panel in one sample is also more efficient than sequential single-gene testing, particularly when the family history pattern does not point clearly to one specific syndrome.

Genetic counselling is an essential companion to hereditary cancer testing — both before testing, to determine the most appropriate panel and prepare for possible results, and after testing, to interpret the result and discuss implications for the patient and at-risk family members.

Tests Available at NPL

Most tumor molecular tests, histopathology, IHC, and genetic tests do not require fasting. However, some blood-based investigations ordered alongside cancer testing may have specific preparation requirements. Please follow the instructions provided by your doctor or NPL.

Home Sample Collection

Hereditary cancer risk testing is blood-based and can be arranged through NPL's standard home sample collection service.

Genetic counselling — strongly recommended both before and after testing — is typically arranged separately with a genetic counsellor or specialist; NPL can help coordinate this referral.

When to See a Doctor

•  Multiple family members with the same or related cancers, across generations

•  Cancer diagnosed at an unusually young age in yourself or a family member

•  Personal history of multiple primary cancers

•  A known hereditary cancer gene variant identified in a family member

•  Uncertainty about whether your family history warrants genetic counselling — a genetic counsellor can help assess this