Wulandari, Catharina Endah
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Lynch Syndrome Wulandari, Catharina Endah
Cermin Dunia Kedokteran Vol 41, No 9 (2014): Diabetes Mellitus
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (236.626 KB) | DOI: 10.55175/cdk.v41i9.1105

Abstract

Colorectal cancer (CRC) is one of three most common cancer in Indonesia. More than 5% CRC cases are associated with inherited gene mutation called Lynch Syndrome. Lynch syndrome is caused by a germline mutation in a mismatch repair gene (MMR) gene (MLH1, MSH2, MSH6, and PMS2). Individual with these gene mutation have approximately 60 to 80% life-time risk for developing CRC. Lynch syndrome is also related to increased risk of other cancers such as cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin. Lynch syndrome is diagnosed based on family history according to criteria of National NCCN, immunohistochemistry and genetic testing. Identification of people who are predisposed to hereditary colorectal cancer is very important, to allow clinicians assess the effective prevention, early detection and intervention to decrease morbidity and mortality.Kanker kolorektal (KKR) merupakan satu dari tiga kanker terbanyak di Indonesia. Lebih dari 5% kasus KKR berkaitan dengan mutasi gen yang diturunkan yang disebut sebagai sindrom Lynch. Sindrom Lynch disebabkan oleh mutasi germline pada gen mismatch repair (MMR) yang meliputi MLH1, MSH2, MSH6, dan PMS2. Individu dengan mutasi gen tersebut memiliki 60 - 80% life-time risk untuk KKR. Sindrom Lynch juga berhubungan dengan peningkatan risiko kanker lain seperti kanker endometrium, ovarium, gaster, usus halus, traktus hepatobilier, traktus urinarius, otal dan kulit. Sindrom Lynch didiagnosis berdasarkan data riwayat keluarga sesuai kriteria NCCN, pemeriksaan imunohistokimia dan pemeriksaan genetika. Indentifikasi individu pengidap sindrom Lynch sangat penting untuk pencegahan, skrining, dan intervensi dini, dan untuk menurunkan angka mortalitas dan morbiditas. 
Hereditary Breast Ovarian Cancer (HBOC) Syndrome Wulandari, Catharina Endah
Cermin Dunia Kedokteran Vol 41, No 11 (2014): Infeksi
Publisher : PT. Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | Full PDF (157.903 KB) | DOI: 10.55175/cdk.v41i11.1070

Abstract

Secara teori kanker disebabkan oleh mutasi genetik yang berperan dalam proses proliferasi sel. Sekitar 5-10% mutasi genetik tersebut dapat diturunkan ke generasi berikutnya, menyebabkan “kanker herediter”. Salah satu bentuk kanker herediter yang banyak ditemukan adalah Hereditary Breast Ovarian Cancer (HBOC) syndrome yang ditandai peningkatan risiko terutama untuk kanker payudara, kanker ovarium, dan onset usia lebih muda. HBOC juga meningkatkan risiko kanker yang berkaitan yaitu kanker prostat, kanker pankreas, dan melanoma. HBOC berhubungan erat dengan mutasi gen BRCA1 dan BRCA2. Kedua gen tersebut termasuk dalam kelas gen tumor suppressor yang berperan penting dalam patofisiologi kanker payudara dan ovarium. Identifikasi individu yang memiliki predisposisi HBOC sangat penting untuk menentukan tatalaksana berikutnya. Penggalian data mengenai riwayat kanker pada keluarga merupakan teknik yang cost-effective untuk mengidentifikasi kanker herediter. Artikel ini membahas sindrom HBOC, diagnosis sampai tatalaksana penurunan risiko untuk menurunkan mortalitas dan morbiditas terkait sindrom HBOC.Cancer is theoretically caused by genetic mutation in cell proliferation. Approximately 5-10% of these genetic mutations can be inherited to the next generation, causing “hereditary cancer”. One of the most common type of hereditary cancer is Hereditary Breast Ovarian Cancer (HBOC) syndrome. It is characterized by increased risk of breast and ovarian cancer development and early onset. HBOC also increases risk of other related cancer such as cancer of prostate, pancreas and melanoma. HBOC has close relationship with BRCA1 and BRCA2 gene mutation. Both are tumor suppressors that have important role in breast and ovarian cancer development. Identification of individual with predisposition for HBOC syndrome is very important. Family history is the most cost-effective method to identify hereditary cancer. This article discuss HBOC syndrome, its diagnosis and risk management to decrease mortality and morbidity rate related to HBOC syndrome. 
Skrining Mamografi dan Mortalitas Kanker Payudara Wulandari, Catharina Endah
Cermin Dunia Kedokteran Vol 51 No 12 (2024): Kedokteran Umum
Publisher : PT Kalbe Farma Tbk.

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.55175/cdk.v51i12.1139

Abstract

Breast cancer is the most common cancer in Indonesia and one of the biggest contributor to cancer mortality. About 70% breast cancers are detected at an advanced stage which makes the mortality rate even higher. Several measures have been taken to detect breast cancer early, including mammography screening. Mammography is X-ray imaging used to detect abnormalities in breast cancer. The American College of Radiology recommends breast cancer screening for at-risk women starting at age 40. However, whether mammography screening can reduce breast cancer mortality is still debatable.