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Medical Genetics

Family Tree Information

In medical genetics, the Family Tree (Pedigree) is a clinical document that uses standardized symbols to depict kinship relationships and health statuses among family members, visualizing the inheritance pattern of diseases across generations.

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ℹWhat is Family Tree Information?

Approximately 5-10% of cancers result from hereditary mutations. Drawing a family tree serves to distinguish whether a cancer developed incidentally or as a result of a genetic predisposition.

Why is it important?

  • Identifying Individuals at Risk: Calculating the risk ratio of family members who do not yet show symptoms of the disease.

  • Genetic Testing Strategy: Deciding which genes (BRCA1, Lynch Syndrome genes, etc.) should be tested.

  • Personalized Screening: Starting check-ups without waiting for the standard screening age if high risk is present.

  • Preventive Measures: Prophylactic surgeries or intensive medication follow-up.

Pedigree Depth

To trace genetic inheritance, a depth of at least three generations must be reached. First-degree relatives (mother, father, siblings, children), second-degree relatives (grandparents, aunts, uncles), and third-degree relatives (cousins, nieces/nephews) are questioned.

Common Symptoms

Cancer Clustering on One Side
The occurrence of the same or related types of cancer in 3 or more people on either the maternal or paternal side.
Early-Age Diagnoses
At least one relative diagnosed with cancer before age 50.
Multiple Cancers
More than one different cancer type in a single relative.
Rare Cancers
Rare cancers, such as male breast cancer.

Diagnosis Methods

Pedigree Construction
A three-generation pedigree is drawn with the physician. Age at diagnosis, cancer type, age and cause of death are recorded.
Risk Scoring
A risk score is calculated from the pedigree data.
Genetic Blood Analysis
If high risk is identified, blood is drawn to screen specific genes. The index case is tested first.
Cancer Panel Screening
Germline mutations and variant analysis are performed. DNA sequence deviations are assessed for pathogenicity.

Causes

First-Degree Relatives
The group with the highest genetic similarity. Cancer histories and ages at diagnosis of parents, siblings, and children.
Second-Degree Relatives
Vital for understanding which lineage carries the mutation. Grandparents, aunts, and uncles.
Third-Degree Relatives
Queried to see the complete picture. Cousins and nephews/nieces.

Prevention

Early Screening Program
For individuals identified as high-risk, screening begins before the standard age (e.g., at 25 instead of 40).
Prophylactic Surgery
Preventive surgical interventions may be considered in very high-risk situations.
Protective Follow-up Program
If genetic testing is positive, a monitoring program is initiated for family members who are not yet affected.
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