http___www.irb.hr_Novosti_Geneticko-testiranje-na-nasljednu-sklonost-za-rak-dojke-i-jajnika_1.xml
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SCREENING BREAST CANCER AND OVARIES RISK Where are BRCA1 and BRCA2 mutation testing to diagnose with breast cancer? BRCA1 and BRCA2 mutation testing is a testing that nowhere can do because it requires excellent experts in molecular biology and have modern equipment such as gene sequencing and gene cloning. LOCI – NAM KHOA DNA testing center is now the only place to do tests on both BRCA1 and BRCA2 mutations by cloning and sequencing 49 exons of the two genes, then analyzing to detect 408 mutations that associate with breast cancer and ovarian cancer. The result of nearly 50 A4 pages are returned to the patient on a CD with a section is printed to summarize the findings and opinions of the genetic counselors. What are sample to do testing? Are there a breast or ovaries biopsies? What time are the results given back? Testing samples are simple. It is oral mucosa or 3- 5ml blood and EDTA anticoagulant. If you don’t do testing, you can store in freezer (no more than 3 days) or you can transfer to the laboratory in Styrofoam boxes with ice gel. Release time is 4 days since the laboratory receive samples. If the customers go directly to the office, the office staff will take samples for testing. What are BRCA1 and BRCA2? BRCA1 and BRCA2 are two genes responsible for inhibiting the formation of tumors (cancer) in the body. Therefore, if two genes are inactive or decrease activity, there would be a high risk of cancer, especially breast cancer and ovarian cancer. BRCA1 and BRCA2 may be reduced activity due to mutations occurring in the gene. How are BRCA1 and BRCA2 mutations responsible for the breast cancer and ovarian cancer? BRCA1 and BRCA2 mutations are responsible for 90% of ovarian cancer and 84% of hereditary breast cancer. It means that a woman in the family who has had breast cancer or ovarian cancer and BRCA1 or BRCA2 mutation, breast cancer or ovarian cancer in this family is inherited (90 % for ovarian cancer and 84% for breast cancer). When should women do testing for BRCA1 and BRCA2 mutation? Currently, scientists have identified breast or ovarian cancer is hereditary in which 15-25% of BRCA1 and BRCA2 mutation. Therefore, the following women should be tested to detect BRCA1 and BRCA2 mutations: - If the women in the family (mother, aunt, grandmother, or sister) have breast cancer or ovarian cancer, the others should be tested. And if the results are mutation, cancer risk is 80%. - The women who are diagnosed with breast or ovarian cancer should be tested to know if it is due to BRCA1 and BRCA2 mutation or not. And thus if cancer is due to genetic, the women in the family should test (children, grandchildren, and sisters). - If the woman’s father had breast cancer, risk of breast cancer by BRCA1 and BRCA2 genetic mutations is very high. And so they are also tested. - The woman does not know that in one’s family there are ovarian cancer or breast cancer, should also be tested. - The rate of ovarian cancer or breast by BRCA1 and BRCA2 mutations is 45-65% (for breast cancer) and 17-40% (for ovarian cancer) from the age of 70, however during the lifetime risk of breast or ovarian cancer still occur in spite of the lower rate. Therefore, testing for BRCA1 and BRCA2 mutation should be done as soon as possible. Big age should be tested because of the higher risk of BRCA1 and BRCA2 mutations. What will you do when testing results detect BRCA1 and BRCA2 mutations? Firstly, you go to meet genetic doctor to be counseled because there are so many types of mutations, including mutations make BRCA1 and BRCA2 to not work, but there are no significant mutations. If the consultation results said that detect mutations are significant, it will have several options: - To learn how to test breast regularly 1 time per month. To go to meet specialist to test breast 1 time per 6 months. Should take MRI mammography once a year. Maybe carry out mastectomy surgery and eliminate 90-95% risk or use vaccine (tamoxifen), you can eliminate the risk by 50% in 5 years. - To test ovarian with ultrasound probe through the vagina with Dopler color 1 time per 6 months, or carry out surgery to remove the fallopian tubes, it will reduce the 80% risk. Drinking contraceptive pill also reduces 60% risk over 6 years. - Because there are so many choices, depending on each person and age, the doctor will consult to recommend suitable option. - Before testing, guests will be consulted clearly to know that guests should do this test or not. And when having the result, guests will be explained easily to avoid the unnecessary psychological effects. - Test price: 25,000,000 VND/a testing
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Prema podacima Registra za rak Hrvatskog zavoda za javno zdravstvo iz 2010. godine, u Hrvatskoj od raka dojke obolijeva oko 2500 žena, a umire više od 1100. Nakon oboljenja srca i krvnih žila upravo je rak dojke najčešći uzrok smrti žena u Hrvatskoj. Javlja se u žena svih dobi, a rizik se povećava s godinama starosti. Međutim, prema podacima Hrvatskog zavoda za javno zdravstvo rak dojke sve češće pogađa mlađe žene, u dobi između 20 i 40 godina. No, ohrabruje podatak da se 75 posto oboljelih izliječi. Rak dojke se pojavljuje i kod muškaraca, ali je kod njih rizik sto puta manji. Iako još nije dovoljno istraženo koji faktori utječu na razvoj raka dojke, znanstveno je dokazano da 5-10% slučajeva otpada na obiteljsko nasljeđe. Važno Često postavljana pitanja: Kada se i kako odlučiti za postupak? Kakva je procedura? Koji su rizici? Uz redovite preglede kod specijalista, te pojačane samo preglede, GENETIČKO TESTIRANJE je važna stepenica u borbi protiv te opake bolesti. Ono može pokazati ima li određena osoba promjene u genima povezane s mogućnošću nastanka raka dojke i jajnika. Ranim otkrivanjem raka povećava se mogućnost izlječenja, a ciljanom i preventivnom terapijom te mijenjanjem životnih navika može se smanjiti smrtnost. Nasljedna sklonost za rak dojke može se odrediti praćenjem mutacija u dva gena, BRCA1 i BRCA2. Određivanje mutacija ta dva gena, koji govore o visokom riziku od karcinoma dojke, provodi se u Laboratoriju za nasljedni rak Instituta Ruđer Bošković. Ovaj test nije predviđen za sporadične slučajeve tumora dojke i jajnika, već za praćenje ljudi s obiteljskom sklonošću. Prvi korak u procesu testiranja gena BRCA1 i 2 je provjeriti jeste li potencijalni kandidat za ovo testiranje, zatim se preporučuje razgovor s liječnikom specijalistom ili genetskim savjetnikom kako bi se utvrdilo je li test prikladan za vas, te kako bi razgovarali o potencijalnim rizicima, ograničenjima i prednosti takvog testa. Test je bezbolan, ali morate uzeti u obzir emotivne implikacije kada se na ovakav test odlučite. Rezultati testiranja gena BRCA1 i BRCA2, ukoliko su negativni, ne isključuju mogućnost obolijevanja od zloćudne bolesti, kao ni što pozitivni rezultati nisu 100% potvrda da će ispitanik na kraju oboljeti od raka dojke jer osim genetskih predispozicija na razvoj ove zloćudne bolesti utječu i brojni drugi faktori. Rezultati ovakvog istraživanja liječnicima omogućavaju pojačani režim praćenja žena iz rizične skupine, pravovremeno uklanjanje tumora te učinkovitije protokole kemoterapije. Potencijalni kandidati za testiranje mutacija u BRCA1 i BRCA2 su: - osobe koje imaju dva ili više bliskih rođaka s rakom dojke (majka ili dvije sestre) - osobe koje u obitelji imaju rak dojke prije 50. godine života, - osobe koje u obitelji imaju rak dojke u više od jedne generacije, - osobe koje imaju više članova obitelji s rakom u obje dojke, - osobe u čijoj je obitelji česta pojava raka jajnika, - osobe kod kojih se javi obostrani rak jajnika prije 40. godine života, - osobe kojima jedna ili više osoba u obitelji ima mutacije BRCA1 i BRCA2 gena. Cjenik usluga Cijene možete vidjeti na ovom linku.