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| 1 | Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families:Implications for genetic testing显示文摘AIM: To analyze the prevalence of germline MLH1 and MSH2 gene mutations and evaluate the clinical characteristics of Hungarian hereditary non-polyposis colorectal cancer (HNPCC) families. METHODS: Thirty-six kindreds were tested for mutations using conformation sensitive gel electrophoreses, direct sequencing and also screening for genomic rearrangements applying multiplex ligation-dependent probe amplifi cation (MLPA). RESULTS: Eighteen germline mutations (50%) were identifi ed, 9 in MLH1 and 9 in MSH2. Sixteen of these sequence alterations were considered pathogenic, the remaining two were non-conservative missense alterations occurring at highly conserved functional motifs. The majority of the defi nite pathogenic mutations (81%, 13/16) were found in families fulfilling the stringent Amsterdam Ⅰ/Ⅱ criteria, including three rearrangements revealed by MLPA (two in MSH2 and one in MLH1). However, in three out of sixteen HNPCC-suspected families (19%), a disease-causing alteration could be revealed. Furthermore, nine mutations described here are novel, and none of the sequence changes were found in more than one family.CONCLUSION: Our study describes for the f irst time the prevalence and spectrum of germline mismatch repair gene mutations in Hungarian HNPCC and suspected-HNPCC families. The results presented here suggest that clinical selection criteria should be relaxed and detection of genomic rearrangements should be included in genetic screening in this population. | Janos Papp Marietta E Kovacs Edith Olah | 2007 | World Journal of Gastroenterology2007，13，19： | 9 |
| 2 | Anthracycline antibiotics induce acute renal tubular toxicityin children with cancer 显示文摘 | Bardi E Bobok I V Olah A | 2007 | Pathol Oneol Res2007，13，3： | 1 |
| 3 | Structure-activity relationships of 1,4-dihydropyridines that act as enhancers of the vanilloid re- ceptor 1 (TRPV1)显示文摘 | Roh E J Keller J M Olah Z | 2008 | Bioorg Med Chem2008，16，： | 1 |
| 4 | Sequence alterations can mask eachother's presence during screening with SSCP or heteroduplex analysis: BRCA genes as examples显示文摘 | Orban TI Csokay B Olah E | 2000 | Biotechniques2000，29，1： | 1 |
| 5 | Superacid coal chemistry: 1 HF:BF3 catalysed depolymerization-ionic hydrolique-faction of coals under mild conditions 显示文摘 | OLAH G A BRUCE M R EDELSON E H HUSAIN A | 1984 | Fuel1984，63，8： | 1 |
| 6 | Long term hazards of neonatal blue light phototherapy显示文摘 | Olah J T6th Moln6r E Kem6ny L et a1 | 2013 | Br J Dermatol2013，169，： | 1 |
| 7 | Adenosine receptors显示文摘 | OLAH M E STILES G L | 1992 | Annual Reviews of Physiology1992，54，： | 1 |
| 8 | Adenosine receptor subtypes: characterization and therapeutic regulation显示文摘 | OLAH M E STILES G L | 1995 | Annual Reviews of Pharmacology and Toxicology1995，35，： | 1 |
| 9 | Modulation of cancer pathways by inhibitors of guanylate metabolism显示文摘 | Olah E Kokeny S Papp J | 2006 | Adv Enzyme Regul2006，46，： | 1 |
| 10 | Effects of some sugar alcohol derivatives on mutation and induction of sister chromatid exchanges显示文摘 | Toth K Sugar J | 1983 | Cancer Res1983，43，10： | 1 |
| 11 | Long-term hazards of neonatal blue-light phototherapy 显示文摘 | Olah J T6th-Moln6r E Kem6ny L | 2013 | Br J Dermatol2013，169，2： | 1 |
| 12 | MicroRNA-s and their role in malignant hema- tologic diseases显示文摘 | Gaal Z Olah E | 2012 | Orv Hetil2012，153，52： | 1 |
| 13 | Emerging roles of BRCA1 alternative splicing显示文摘 | Orban TI Olah E | 2003 | Mol Pathol2003，56，4： | 1 |
| 14 | Molecular cloning and charac-terization of an adenosine receptor:the A3 adenosine receptor显示文摘 | Zhou Q Y Li C Olah M E | 1992 | Proc Natl Acad Sci USA1992，89，16： | 1 |
| 15 | Ionic liquid and solid HF equivalent amine-poly (hydrogen fluoride) complexes effecting efficient environmentally friendly isobutane-isobutylene alkylation显示文摘 | OLAH G A MATHEW T GOEPPERT A TOROK B BUCSI I LI X Y WANG Q MARINEZ E R BATAMACK P ANISZFELD R PRAKASH G K | 2005 | J Am Chem Soc2005，127，16： | 1 |
| 16 | Characterization of chicken epiden'nal dendritic cells显示文摘 | Igyarto B Z Lacko E Olah l | 2006 | Immunology2006，119，： | 1 |
| 17 | Ionic liquid and solid HF equivalent amine-poly(hydrogen fluoride) complexes effecting efficient environmentally friendlyisobutane-isobutylene alkylation显示文摘 | OLAH G A MATHEW T GOEPPERT A TOROK B BUCSI I LI X Y WANG Q MARINEZ E R BATAMACK P ANISZFELD R PRAKASH G K | 2005 | J Am Chem Soc2005，127，16： | 1 |
| 18 | Long-term hazards of neonatal blue-light photothcrapy 显示文摘 | Olah J T6th-Moln6r E Kemny L | 2013 | Br J Dermatol2013，169，2： | 1 |
| 19 | Molecular genetic abnormalities in the patholgenesis of human lung cancer显示文摘 | Forgacs E Zochbauer-Muller S Olah E | 2001 | Pathol -ogy Oncolology Research2001，7，1： | 1 |
| 20 | Anatomical and morphological parameters of leaves and leaf petioles of Actinidia deliciosa显示文摘 | Olah R Masarovicova E Samj J | 1997 | Biologia Plantarum1997，39，2： | 1 |
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