http___www.irb.hr_Novosti_Geneticko-testiranje-na-nasljednu-sklonost-za-rak-dojke-i-jajnika_1.xml
1.1 2.1 3.1 4.1 5.1 5.2 6.1 7.1 7.2 8.1 9.1 10.1 11.1 12.1 13.1 13.2 14.1 15.1 16.1 17.1 18.1 19.1 19.2 20.1 20.2 21.1 22.1 23.1 24.1 25.1 26.1 26.2 27.1 28.1 28.2 29.1 30.1 31.1 32.1 33.1 33.2 34.1 35.1 35.2 36.1 37.1 38.1 39.1 40.1 41.1 41.2 42.1 43.1 43.2 44.1 45.1 46.1 47.1 47.2 48.1 49.1 50.1 51.1 52.1 53.1 53.2 54.1 55.1 56.1 57.1 58.1 59.1 60.1 61.1 62.1 63.1 64.1 65.1 66.1 67.1 68.1 68.2 69.1 70.1 71.1 71.2 72.1 73.1 74.1 75.1 75.2 76.1 77.1 78.1 79.1 80.1 81.1 82.1 83.1 84.1 85.1 85.2 86.1 87.1 88.1 88.2 89.1 90.1 91.1 92.1 93.1 93.2 94.1 95.1 96.1 97.1 97.2 98.1 99.1 99.2 100.1 101.1 101.2 102.1 103.1 104.1 104.2 105.1 106.1 107.1 108.1 109.1 110.1 111.1 111.2 112.1 113.1 114.1 114.2 115.1 116.1 117.1 118.1 119.1 120.1 121.1 122.1 122.2 123.1 123.2 124.1 125.1 125.2 126.1 127.1 128.1 129.1 130.1 131.1 132.1 133.1 134.1 135.1 136.1 137.1 138.1 139.1 140.1 141.1 142.1 142.2 143.1 144.1 145.1 146.1 147.1 147.2 148.1 148.2 149.1 150.1 151.1 152.1 153.1 154.1 155.1 156.1 157.1 158.1 159.1 160.1 162.1 163.1 164.1 165.1 166.1 167.1 168.1 169.1 170.1 170.2 171.1 173.1 176.1 179.1 184.1 187.1 190.1 193.1 195.1 196.1 197.1 198.1 201.1 204.1 206.1 207.1 209.1 211.1 213.1 218.1 221.1 222.1 224.1
What is breast cancer? Breast cancer is a disease in which certain cells in the breast become abnormal and multiply without control or order to form a tumor. The most common form of breast cancer begins in cells lining the ducts that carry milk to the nipple (ductal cancer). Other forms of breast cancer begin in the glands that produce milk (lobular cancer) or in other parts of the breast. Early breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, or scaliness. These changes can occur as part of many different conditions, however. Having one or more of these symptoms does not mean that a person definitely has breast cancer. In some cases, cancerous tumors can invade surrounding tissue and spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers. A small percentage of all breast cancers cluster in families. Hereditary cancers are those associated with inherited gene mutations. Hereditary breast cancers tend to occur earlier in life than noninherited (sporadic) cases and are more likely to involve both breasts. How common is breast cancer? Researchers estimate that more than 178,000 new cases of invasive breast cancer will be diagnosed in U.S. women in 2007. Most breast cancers occur in women, but they can also develop in men. Scientists estimate that more than 2,000 new cases of breast cancer will be diagnosed in men in 2007. An estimated 5 percent to 10 percent of all breast cancers are hereditary. Particular mutations in genes associated with breast cancer are more common among certain geographic or ethnic groups, such as people of Ashkenazi (central or eastern European) Jewish heritage and people of Norwegian, Icelandic, or Dutch ancestry. Particular genetic changes occur more frequently in these groups because they have a shared ancestry over many generations. What genes are related to breast cancer? Variations of the BRCA1, BRCA2, CDH1, PTEN, STK11, and TP53 genes increase the risk of developing breast cancer. The AR, ATM, BARD1, BRIP1, CHEK2, DIRAS3, ERBB2, NBN, PALB2, RAD50, and RAD51 genes are associated with breast cancer. Cancers occur when a buildup of genetic mutations in critical genes—those that control cell growth and division or the repair of damaged DNA—allow cells to grow and divide uncontrollably to form a tumor. In most cases, these genetic changes are acquired during a person's lifetime and are present in certain cells. These changes, which are called somatic mutations, are not inherited. Less commonly, gene mutations inherited from a parent increase the risk of developing cancer. In people with these inherited genetic changes, additional somatic mutations in other genes must occur for cancer to develop In addition to specific genetic changes, researchers have identified many personal and environmental factors that may influence a person's risk of developing breast cancer. These factors include gender, age, ethnic background, a history of previous breast cancer, certain changes in breast tissue, and hormonal factors. A history of breast cancer in closely related family members is also an important risk factor, particularly if the cancer occurred at an early age. Some breast cancers that cluster in families are associated with inherited mutations in particular genes, such as BRCA1 or BRCA2. BRCA1 and BRCA2 are major genes related to hereditary breast cancer. Women who have inherited certain mutations in these genes have a high risk of developing breast cancer, ovarian cancer, and several other types of cancer during their lifetimes. Men with BRCA1 mutations also have an increased risk of developing breast cancer. Additionally, BRCA1 mutations are associated with an increased risk of pancreatic cancer. Mutations in the BRCA2 gene are associated with an increased chance of developing male breast cancer and cancers of the prostate and pancreas. An aggressive form of skin cancer called melanoma is also more common among people who have BRCA2 mutations. Inherited changes in several other genes, including CDH1, PTEN, STK11, and TP53, have been found to increase the risk of developing breast cancer. Mutations in these genes cause syndromes that greatly increase the chance of developing several types of cancer over a person's lifetime. Some of these syndromes also include other signs and symptoms, such as the growth of noncancerous (benign) tumors. Some research suggests that inherited variants of the ATM, BARD1, BRIP1, CHEK2, NBN, PALB2, RAD50, and RAD51 genes, as well as certain versions of the AR gene, may also be associated with breast cancer risk. Not all studies have shown these connections, however. Of these genes, ATM and CHEK2 have the strongest evidence of being related to the risk of developing breast cancer. Noninherited (somatic) mutations also have been identified in breast tumors. For example, somatic mutations in the ERBB2 (also called Her-2/neu), DIRAS3, and TP53 genes have been associated with some cases of breast cancer. Read more about the AR, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DIRAS3, ERBB2, NBN, PALB2, PTEN, RAD50, RAD51, STK11, and TP53 genes. How do people inherit breast cancer? Most cases of breast cancer are not inherited. These cancers are associated with genetic changes that occur only in breast cancer cells (somatic mutations) and occur during a person's lifetime. In hereditary breast cancer, the way that cancer risk is inherited depends on the gene involved. For example, mutations in the BRCA1 and BRCA2 genes are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. In other cases, the inheritance of breast cancer risk is unclear. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer. Where can I find information about treatment for breast cancer? These resources address the management of breast cancer and may include treatment providers. - Gene Review: BRCA1 and BRCA2 - Hereditary Breast/Ovarian Cancer - Genetic Alliance You might also find information on treatment of breast cancer in Educational resources and Patient support. Where can I find additional information about breast cancer? You may find the following resources about breast cancer helpful. These materials are written for the general public. MedlinePlus - Health information (4 links) Additional NIH Resources - National Institutes of Health (6 links) Educational resources - Information pages (12 links) Patient support - For patients and families (10 links) You may also be interested in these resources, which are designed for healthcare professionals and researchers. - Gene Reviews- Clinical summary Gene Tests - DNA tests ordered by healthcare professionals (3 links) - Genetic Tools- Teaching cases ClinicalTrials.gov- Linking patients to medical research PubMed- Recent literature - Online Books - Medical and science texts Bases of Inherited Disease (OMMBID):Breast Cancer OMIM- Genetic disorder catalog
1.1 1.2 1.3 1.4 1.5 2.1 2.2 3.1 4.1 4.2 4.3 5.1 5.2 5.3 6.1 6.2 6.3 6.4 6.5 7.1 7.2 8.1 9.1 10.1 11.1 12.1 13.1 14.1 15.1 16.1 17.1
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.