Author/Editor		Černivc, Barbara; Bešić, Nikola; Lokar, Katarina; Krajc, Mateja; Novaković, Srđan; Žgajnar, Janez
Title		Pogostnost mutacije gena BRCA1 in gena BRCA2 pri moških z rakom dojke v Sloveniji
Translated title		Frequency of BRCA1 and BRCA2 gene mutations in Slovenian male breast cancer patients
Type		članek
Source		Med Razgl
Vol. and No.		Letnik 45, št. 2
Publication year		2006
Volume		str. 129-39
Language		slo
Abstract		Breast cancer is the most frequent cancer among women in Slovenia. Male breast cancer, however, is a rare disease comprising less than 1% of breast cancer patients in Slovenia. The causes for some of inherited cases are mutations of the BRCA1 or BRCA2 genes. BRCA2 gene mutation carriers have an increased risk of breast cancer. It is estimated that 15% of men who carry a germ-line BRCA2 gene mutation will develop breast cancer. Studies in various countries have shown varying frequencies of BRCA2 gene mutations. There is no information about the frequency of mutation carriers in the Slovene male breast cancer population. The purpose of our population-based study was to determine the frequency of BRCA2 or BRCA1 gene mutation carriers among male breast cancer patients in Slovenia. Our study hypothesis was: The frequency of BRCA2 gene mutation carriers among male breast cancer cases is over 10%. Records on 136 male patients treated for breast cancer between 1975 and 2005 at the Ljubljana Institute of Oncology were retrieved. At the time of our study, 38 of those parients were still alive. They were invited to receive genetic counselling and undergo genetic testing. Genetic testing was performed using blood samples at the Laboratory of Oncological Genetics at the Vrije Universiteit in Brussels. The BRCA1 and BRCA2 genes were screened for mutations using the PTT and F-CSGE tests, then the high peaked samples were sequenced. Twenty-two male breast cancer patients were tested. BRCA2 gene mutation was identified in three male breast cancer patients. Two of them carried the Slovene founder mutation IVS16-2a > G. This mutation has been found in nine Slovene families so far. None of our patients had BRCA1 mutation. (Abstract truncated at 2000 characters)
Summary		Rak dojke je v Sloveniji najpogostejši rak žensk. Ta rak se pojavlja tudi pri moških, vendar je redek in predstavlja manj kot odstotek raka dojk. Podedovanje rakov dojk je 5-10%. Vzrok za podedovane oblike raka dojk pri nekaterih bolnikih so mutacije genov BRCA1 oziroma BRCA2. Mutacija gena BRCA2 močno poveča tveganje za nastanek raka dojk pri moških, saj naj bi po podatkih iz literature zbolelo kar 15% nosilcev mutacije. Študije raziskovalcev iz različnih držav so pokazale, da je pogostost mutacij genov BRCA2 različna glede na državo. Za slovensko populacijo teh podatkov še nimamo. Namen naše prospektivne populacijske epidemiološke raziskave je ugotoviti, kakšna je pogostnost mutacije gena BRCA2 oziroma BRCA1 pri moških z rakom dojke v Sloveniji. Naša raziskovalna hipoteza je, da je v Sloveniji pogostnost mutacije gena BRCA2 pri bolnikih z rakom dojke več kot 10%. Na Onkološkem inštitutu smo zbrali podatke o 136 moških, ki so zboleli za rakom dojke od leta 1975. Živih je še 38 bolnikov in te smo pisno povabili na genetsko svetovanje in gensko testiranje. Kri so analizirali v Laboratoriju za onkološko genetiko Svobodne univerze v Bruslju. Tam iščejo mutacije genov BRCA1 oziroma BRCA2 s testoma PTT in F-CSGE in sekvencioniranjem vzorcev z nenormalnimi vrhovi. Genetsko testiranje je bilo izvedeno pri 22 moških. Mutacijo gena BRCA2 smo ugotovili pri treh moških. Pri dveh od njih smo našli slovensko founder mutacijo IVS 16-2a>G. To mutacijo so zaenkrat ugotovili pri devetih družinah. Noben bolnik ni imel mutacije gena BRCA1. Mediana starost vseh bolnikov z rakom dojke je bila 58 let (od 17 do 86 let). Mediana strarost bolnikov z mutacijo gena BRCA2 je bila 64 let, ostalih bolnikov pa 57 let. Med bolniki z rakom dojke z mutacijo in tistimi brez mutacije nismo ugotovili statistične razlike glede starosti (p=0,41). (Izvleček prekinjen pri 2000 znakih)
Descriptors		BREAST NEOPLASMS, MALE GENES, BRCA1 MUTATION PEDIGREE