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Jang Woo-ri, professor at Inha University Hospital, “It is possible to select family members with high cancer risk”
“It is possible to identify and monitor the causative mutation… important for family cancer risk assessment and prevention”
‘Cancer’ is a disease caused by genetic mutation. Most of them are ‘sporadic cancer’. It is a cancer in which acquired genetic mutations are confined to tumor tissues due to various causes that cause gene mutations. Sporadic cancers are not inherited.
However, some cancers are inherited. These cancers are called ‘hereditary cancers’. It accounts for 5-10% of all cancers. Hereditary cancer patients are characterized by an increased risk of cancer due to the occurrence of congenital pathological mutations in genes involved in cell cycle regulation or DNA damage repair mechanisms.
Representative diseases are hereditary breast and ovarian cancer syndromes caused by BRCA1 and BRCA2 gene mutations. If hereditary cancer is diagnosed in advance, it can be prevented or diagnosed early in the family. We heard about the importance of screening and diagnosis of hereditary cancer from Jang Woo-ri, a professor of laboratory medicine at Inha University Hospital.
Jang Woo-ri, professor of laboratory medicine at Inha University Hospital, explains the difference between hereditary cancer and sporadic cancer. Ⓒ Inha University Hospital
When to suspect hereditary cancer.
“Cancer is diagnosed at an early age, multiple primary cancers in one individual, bilateral cancer of the breast or kidney, the same type of cancer in a family, multiple generations If you are diagnosed with cancer, you can suspect hereditary cancer if you are diagnosed with a rare cancer with a known heritability, such as androgenetic breast cancer or medullary carcinoma of the thyroid gland. In addition, when clinical symptoms or endoscopy or biopsy findings that can suspect a known hereditary cancer syndrome are confirmed, genetic testing may be recommended by medical staff.”
Why is genetic cancer diagnosis important?
“Because people with pathological mutations in hereditary cancers have a greatly increased risk of cancer, and gene mutations can be inherited within the family, identifying the causative mutations of hereditary cancer is not only a way to diagnose and treat patients, but also to prevent symptoms from manifesting. It is important for assessing cancer risk and preventing cancer in the family of patients who have not been diagnosed. Taking the most familiar BRCA1 and BRCA2 genes as an example, in the case of Korean women with BRCA1 mutation, the risk of breast cancer by the age of 70 is 72%, ovarian cancer is 25%, and in the case of BRCA2 mutation, the risk of breast cancer is 66% and ovarian cancer is 11% being reported
In addition, it is known to increase the risk of various cancers such as male prostate cancer, pancreatic cancer, biliary tract cancer, and colorectal cancer. Even patients who have already developed cancer can learn information related to the disease and learn about other cancers with a high risk of occurrence if they are diagnosed with genetic cancer. management and prevention. Genetic testing in the patient’s family can select family members who have not yet developed cancer, but are at high risk of developing cancer. For early diagnosis and prevention of cancer, patients and carriers with genetic mutations need regular examinations and examinations according to the customized surveillance guidelines for each causative gene.”
How is hereditary cancer diagnosed?
“If a cancer patient is tested for the gene that causes hereditary cancer and a congenital pathological mutation is identified, it can be diagnosed as a hereditary cancer. Genetic tests performed on cancer patients can be divided into two types according to the type of specimen. By performing genetic testing on tumor tissue samples, acquired genetic mutations can be identified to obtain genetic information related to the diagnosis, treatment, and prognosis of tumors. In patients suspected of having hereditary cancer, it is necessary to check the congenital genetic mutations that have been present since birth, so genetic testing is performed using normal cells rather than tumor tissue, and most of them use easy-to-collect blood samples.
Recently, there is a cancer predictive genetic test for the general public, not for patients, by health checkup programs in hospitals or genetic testing companies. In order to diagnose hereditary cancer, medical treatment and consultation are essential.”
How is genetic cancer genetic testing done?
“Genes are the basic units of genetic information. It is contained in chromosomes in the nucleus of the cells of our body. Usually, the blood that is easiest to collect is taken for genetic testing. Genetic testing is to determine whether there is a mutation that causes a disease in a specific gene, and there are many different types of mutation. Although genetic testing technology has advanced a lot, it is not yet possible to detect all types of genetic mutations with one test.
Tests such as direct sequencing and MLPA testing can be performed sequentially, or multiple genes related to hereditary cancer can be tested at once using next-generation sequencing. In general, several genes or all of a specific gene are tested in patients who are first suspected of having a genetic cancer in the family, and tests are performed to check only the presence or absence of specific pathological mutations in the family of patients who are known to have pathological mutations inherited in the family. .”
How does genetic counseling for hereditary cancer work?
“Genetic counseling proceeds with genetic counseling for patients before genetic testing and genetic counseling after testing. Afterwards, genetic counseling is provided to families who need genetic testing. Pre-test genetic counseling includes information such as history collection, family tree, reason for testing, explanation of test method, cost, interpretation of positive and negative results, possibility of ambiguous analysis results, possibility of inheritance, possibility of family test includes
Post-test genetic counseling provides counseling on the interpretation of test results, the need for family tests, treatment plans, and psychosocial factors. Depending on the causative gene, the genetic pattern and risk level are different, and genetic counseling is absolutely necessary because the timing of genetic testing and regular checkups differs depending on the type of cancer and the causative gene, especially in young children among families without symptoms.”
Please explain the genetic testing conducted at Inha University Hospital.
“Most genetic tests for hereditary cancer known so far are all possible. BRCA1 and BRCA2 gene tests to diagnose hereditary breast-ovarian cancer syndrome in breast and ovarian cancer patients, as well as APC, MSH2 and MLH1 gene tests to diagnose familial adenomatous polyposis and Lynch syndrome in colorectal cancer patients; Genetic testing for various hereditary cancers, including RET gene testing, is being performed in patients with endocrine gland tumors.
Inha University Hospital operates a rare disease center in the northwestern part of Gyeonggi Province. It is a rare and genetic disease center, and it has a well-equipped system for requesting genetic testing and receiving genetic counseling. During treatment in each department, medical staff provide counseling to patients who need genetic testing, and when in-depth counseling is requested to the Center for Rare and Genetic Diseases, coordinators and medical staff provide counseling on genetic cancer. If necessary, genetic counseling is also available through multidisciplinary care.”
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2023-09-06 08:14:30
#cancer #patients #hereditary #Diagnosis #testing #important
