Obstetrics & gynecology science

Korean Society of Obstetrics and Gynecology (대한산부인과학회)
권호 표지

Clinical approach of hereditary cancer in gynecology

부인과 영역에서 유전성 종양의 임상적 접근

Lee, Chae-Hyeong;No, Ju-Won
이채형;노주원

  • Published : 20090000
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Abstract

Hereditary cancer syndrome is a genetic condition that causes and increases the risk for specific type of cancers. Recent advances in geneticshave identified a number of genes associated with inherited susceptibility to cancer, and this rapid development of knowledge about cancergenetics have implications for all aspects of cancer management, including prevention, screening, and treatment. Hereditary patterns ofcancer are often characterized by early age at onset, high penetrance, bilaterality in paired organs, vertical transmission through eitherparent, and an association with other types of tumors. Most representative hereditary cancer syndromes in gynecologic field are hereditarybreast/ovarian cancer syndrome (HBOC), hereditary non-polyposis colorectal cancer (HNPCC), Li-Fraumeni syndrome, and Cowdensyndrome. Several familial mutations of specific genes, such as BRCA1, 2, TP53, PTEN, MMR, CHEK2, are linked to hereditary cancersyndrome, which are responsible for hereditary gynecologic cancers. It would be very important for gynecologic doctors to know theinclusion criteria for the genetic assessment, taking family history, clinical evaluation, genetic testing, screening guideline and risk reductionstrategies for women with hereditary high risk factor. The morbidity and mortality of gynecologic malignancies related to these syndromescould be reduced by the adequate clinical approach, although recent guidelines were developed with an acute awareness of the preliminarynature of much of our knowledge regarding the clinical application of the rapidly emerging field of molecular genetics, and with anappreciation for the need for flexibility when applying these guidelines to individual families.

유전성 종양 증후군은 가족에서 특정 유형의 암 발생이 일반인에 비하여 증가하는 유전적 배경을 지닌 경우로 정의할 수 있다. 최근 유전학의 발달로 인하여 이러한 유전성 종양의 원인이 되는 유전자들이 많이 밝혀지고, 이에 따라 이러한 종양의 예방, 선별검사 및 치료 등 모든 임상의 분야에 적용되기 시작하였다. 유전성 종양의 특징으로는 젊은 연령에서 발병하고, 투과도가 높으며, 양측으로 존재하는 기관인 경우 양측성으로 발생하는 경우가 많고, 양측 부모 중 일측으로 주로 전달되며, 여러 다른 종류의 종양이 함께 발생하는 점을 들 수 있다. 유전성 종양 증후군 중 부인과 분야와 관련이 있는 것으로 알려져 있는 대표적인 질환으로는 유전성 유방암/난소암 증후군 (HBOC), 유전성 비용종증 대장암 (HNPCC), Li-Fraumeni 증후군, Cowden 증후군 등을 들 수 있다. BRCA1, 2, TP53, PTEN, MMR, CHEK2 등의 몇 가지 특정한 유전자의 돌연변이가 이러한 부인암과 관련된 유전성 종양의 원인으로 현재 알려져 있다. 부인과 의사로서 이러한 고위험군에 해당하는 환자의 선별, 가족력 청취, 임상적 평가, 유전자검사법을 통한 확인 등을 숙지하고, 고위험군에 해당하는 환자에게 적용할 수 있는 적절한 선별검사, 암발생 위험을 낮추기 위한 처치 등을 이해하는 것은 매우 중요한 일이다. 부인과 분야의 유전성 종양의 발생 및 사망률도 이러한 적절한 임상적 접근을 통하여 감소할 수 있을 것으로 기대된다. 단, 현재의 권고안은 빠르게 발전하고 있는 분자유전 학적 지식의 초기 단계 결과를 바탕으로 이루어진 것이므로, 이를 임상적으로 개개의 환자 및 가족에게 적용할 때에는 신중 한 판단에 따라 탄력적으로 적용하기 위한 노력이 필요하다.

Keywords

References

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