Hereditary cancer syndrome is a type of inherited disorder wherein there is higher risk of certain types of cancer in a family due to mutations of certain genes. Compared to ordinary cancers, hereditary cancers occur in relatively younger ages and simultaneously affect several organs as well. Hereditary cancer syndrome can be suspected if the same cancer affects a number of family members.

Hereditary cancers can be diagnosed through a genetic test. Once the syndrome-causing gene is identified, all family members must undergo the genetic test. Based on the result, medical measures to lower the risk of cancer incidence must be considered.

Symptoms of Hereditary Cancer

In general, genetic mutations pointed out as the causes of hereditary cancers are passed down from parent to child through autosomal dominant inheritance. The cancer genes are passed on from parents at the probability of 50%, affecting all generations. The gender to which the genes are passed down is not specified. Therefore, both men and women have the same level of risk. It is advised to suspect hereditary cancer and seek advice from specialists if two or more family members have been diagnosed with the same cancer, the age at which a family member was diagnosed with cancer is before 50 years, one person has been diagnosed with two or more cancers, or a rare cancer with extremely low rate of incidence has been diagnosed.

Examination

A typical example of hereditary cancer is hereditary breast and ovarian cancer syndrome. As the syndrome-causing genes have been successfully verified (BRCA1, BRCA2), the syndrome can be diagnosed through a test on these genes. Another example of hereditary cancer is Lynch syndrome. It can be suspected if colorectal cancer occurs concurrently with endometrial cancer, pancreaticobiliary cancer, or urinary cancer. The syndrome-causing genes have been verified as MLH1, MSH2, and MSH6.

As most hereditary cancers are not matched one-on-one with specific causal genes, it is best to determine the test for finding the causal genes following consultation with a specialist. If there are clinically suspected genes, conducting a test on the specific genes is helpful in increasing the diagnosis rate. If it is difficult to specify the genes, however, the dozens of cancer genes verified so far can be tested as a panel.

Effect of Consultation for Cancer Heritability

The purpose of consultation for cancer heritability is to assist in the medical decision for cancer management of the entire family by providing medical knowledge of hereditary cancers. Therefore, weight is placed on promoting accurate understanding of hereditary cancers and discussing appropriate plans for response. This is a clear difference from psychiatric consultation.

Although hereditary cancers do not take a considerable share among all cancers, considering the necessity of appropriate medical care for family members prior to cancer occurrence as well as the impact of each cancer patient on the lives of all family members, consultation for cancer heritability is one of the medical services that needs to be increased gradually in Korea’s medical system.

With hereditary cancer syndrome, the probability of various cancers occurring in one patient is high. Therefore, interdisciplinary treatment may be necessary.