Kadar C-erbb2 dalam Serum dan Saliva Pasien Kanker Payudara

C-erbB2 used as a marker for determining treatment and prognosis of breast cancer. The most often method used to evaluate c-erbB2 in tissue samples is by immunohistochemistry (IHC). Another method to evaluate c-erbB2 is measure the level of ECD (extra cellular domain) c-erbB2 were detached from the cell surface in serum and saliva. Saliva is used as a diagnostic tool because it can be collected noninvasive, easy. This study aimed to evaluate the levels of c-erbB2 in serum and saliva breast cancer patients compared to controls and to assess the possibility of the use of saliva as an alternative sample examination biomarker. The study using cross sectional design, implemented at Dharmais hospital of April-December 2012. The sample consisted of 55 subject of cancer patients and 56 controls. Specimens were taken from both groups, levels of c-erbB2 serum and saliva were measured by ELISA (cut off value ¥30 ng/ml) and the results compared to c-erbB2 IHC. Serum and salivary level of c-erbB2 increased at 10,9% and 7,3% of breast cancer patients. The levels of c-erbB2 in serum and saliva patients was higher than controls. Salivary levels of c-erbB2 correlated with serum (r=0.31). Sensitivity of serum c-erbB2 38% and 13% for saliva, spesivicity of 91% for both. PPV 50% and NPV 86% at serum, PPV 25% and NPV 82% at saliva. C-erbB2 can be detected in the serum and saliva and its overexpressed in 7-11% of breast cancer patients. Saliva may have potensial use as an alternative sample examination biomarkers in breast cancer.Keywords : C-Erbb2 ; Serum; Saliva; Breast CancerAbstrakPemeriksaan c-erbB2 berguna dalam menentukan terapi dan prognosis pasien kanker payudara. Carapaling sering untuk mengevaluasi ekspresi protein c-erbB2 dalam sampel jaringan adalah imunohistokimia (IHK). Cara lainnya adalah dengan menilai kadar ECD (extra cellular domain) c-erbB2 dalam serum dan saliva yang terlepas dari permukaan sel. Saliva digunakan sebagai spesimen diagnosis karena dapat dikumpulkan secara non-invasif, mudah, tanpa peralatan khusus untuk mengumpulkannya. Penelitian ini bertujuan untuk mengevaluasi kadar c-erbB2 dalam serum dan saliva pada pasien kanker payudara dibandingkan dengan kontrol serta menilai kemungkinan penggunaan saliva sebagai spesimen alternatif pemeriksaan penanda pada kanker payudara. Penelitian menggunakandesain cross sectional analitik, dilaksanakan di RS kanker Dharmais dari April-Desember 2012. Sampel terdiri dari: 55 subjek kelompok pasien kanker dan 56 kelompok kontrol. Spesimen diambil dari serum dan saliva kedua kelompok, kadar c-erbB2 diukur dengan metode ELISA dengan cut off value ¥30 ng/ml, kemudian hasil kadar c-erbB2 dibandingkan dengan c-erbB2 jaringan (IHK). Amplifikasi c-erbB2 jaringan terjadi pada 14,5% pasien kanker payudara sedangkan kadar c-erbB2 serum dan saliva meningkat pada 10,9% dan 7,3% pasien. Kadar rata-rata c-erbB2 serum dan saliva pada kelompok pasien kanker payudara lebih tinggi daripada kelompok kontrol. Kadar c-erbB2 dalam saliva berkorelasi dengan kadar c-erbB2 serum (r=0,31). Sensitifitas c-erbB2 pada serum 38%, 13% pada saliva. Spesifisitas serum dan saliva masing-masing 91% dengan PPV 50%, NPV 86% pada serum dan PPV 25%, NPV 82% pada saliva. C-erbB2 dapat terdeteksi di dalam serum dan saliva, mengalami overekspresi pada 7-11% pasien kanker payudara. Saliva merupakan sampel yang potensial digunakan sebagai sampel pemeriksaan biomarker kanker payudara.Kata kunci : C-Erbb2; Saliva; Serum; Kanker Payudar

BRCA1 and BRCA2 germline mutation analysis in the Indonesian population

Specific mutations in BRCA1 and BRCA2 genes have been identified in specific populations and ethnic groups. However, little is known about the contribution of BRCA1 and BRCA2 mutations to breast cancers in the Indonesian population. One hundred-twenty moderate to high risk breast cancer patients were tested using PCR-DGGE, and any aberrant band was sequenced. Multiplex ligation-dependent probe amplification (MLPA) was performed on all samples to detect large deletions in the two genes. Twenty-three different mutations were detected in 30 individuals, ten were deleterious mutations and 20 were “unclassified variants” with uncertain clinical consequences. Three of seven (c.2784_2875insT, p.Leu1415X and del exon 13–15) and two of four (p.Glu2183X and p.Gln2894X) deleterious mutations that were found in BRCA1 and BRCA2 respectively, are novel. Several novel, pathogenic BRCA1 and BRCA2 germline mutations are found in early onset Indonesian breast cancer patients, these may therefore be specific for the Indonesian population