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21 results on '"Mędrek, Krzysztof"'

1. Low-risk Genes and Multi-organ Cancer Risk in the Polish Population

Author

Dębniak Tadeusz, Cybulski Cezary, Kurzawski Grzegorz, Górski Bohdan, Huzarski Tomasz, Byrski Tomasz, Gronwald Jacek, Suchy Janina, Masojć Bartłomiej, Mierzejewski Marek, Lener Marcin, Teodorczyk Urszula, Mędrek Krzysztof, Złowocka Elżbieta, Grabowska-Kłujszo Ewa, Nej-Wołosiak Katarzyna, Szymańska Anna, Szymańska-Pasternak Jolanta, Matyjasik Joanna, Wetering Thierry, Jakubowska Anna, Oszurek Oleg, Tołoczko-Grabarek Aleksandra, Castaneda Jennifer, Scott Rodney, Narod Steven A, and Lubiński Jan

Subjects
CDKN24, CHEK2, NOD2, cancer risk, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
Published
2006
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2. The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple Organs

Author

Lubiński Jan, Huzarski Tomasz, Kurzawski Grzegorz, Suchy Janina, Masojć Bartłomiej, Mierzejewski Marek, Lener Marcin, Domagała Wenancjusz, Chosia Maria, Teodorczyk Urszula, Mędrek Krzysztof, Dębniak Tadeusz, Złowocka Elżbieta, Gronwald Jacek, Byrski Tomasz, Grabowska Ewa, Nej Katarzyna, Szymańska Anna, Szymańska Jolanta, Matyjasik Joanna, Cybulski Cezary, Jakubowska Anna, Górski Bohdan, and Narod Steven A

Subjects
NOD2, cancer susceptibility, multiple organs, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282, Genetics, QH426-470
Abstract

Abstract The NOD2 gene has been associated with susceptibility to Crohn's disease and individuals with Crohn's disease are at increased risk for cancer at a number of organ sites. We studied the association between the 3020insC allele of the NOD2 gene and cancer among 2604 cancer patients and 1910 controls from Poland. Patients were diagnosed with one of twelve types of cancer in the Szczecin region between 1994 and 2004. Significant associations were found for colon cancer (OR = 1.8; 95% CI 1.2 to 2.6), for lung cancer (OR = 1.7; 95% CI = 1.1 to 2.5) and for ovarian cancer (OR = 1.6; 95% CI 1.1 to 2.3). In addition, a significant association was found for early-onset laryngeal cancer (OR = 2.9; 95% CI 1.4 to 6.2) and for breast cancer in the presence of DCIS (OR = 2.1 95% CI = 1.2 to 3.6). The NOD2 3020insC allele is relatively common (in Poland 7.3% of individuals) and may be responsible for an important fraction of cancer cases. We estimate that the lifetime cancer risk among carriers of this allele is 30% higher than that of individuals with two wild-type alleles.

Published
2005
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3. Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology

Author

Lubiński, Jan, Korzeń, Marcin, Górski, Bohdan, Cybulski, Cezary, Dębniak, Tadeusz, Jakubowska, Anna, Jaworska, Katarzyna, Wokołorczyk, Dominika, Mędrek, Krzysztof, Matyjasik, Joanna, Huzarski, Tomasz, Byrski, Tomasz, Gronwald, Jacek, Masojć, Bartłomiej, Lener, Marcin, Szymańska, Anna, Szymańska-Pasternak, Jolanta, Serrano-Fernàndez, Pablo, Piegat, Andrzej, Uciński, Rafał, Domagała, Paweł, Domagała, Wenancjusz, Chosia, Maria, Kładny, Józef, Górecka, Barbara, Narod, Steven, and Scott, Rodney

Published
2009
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6. Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer

Author

Notaridou, Maria, Quaye, Lydia, Dafou, Dimitra, Jones, Chris, Song, Honglin, Hgdall, Estrid, Kjaer, Susanne K., Christensen, Lise, Hgdall, Claus, Blaakaer, Jan, McGuire, Valerie, Wu, Anna H., Van Den Berg, David J., Pike, Malcolm C., Gentry-Maharaj, Aleksandra, Wozniak, Eva, Sher, Tanya, Jacobs, Ian J., Tyrer, Jonathan, Schildkraut, Joellen M., Moorman, Patricia G., Iversen, Edwin S., Jakubowska, Anna, Mędrek, Krzysztof, Lubiński, Jan, Ness, Roberta B., Moysich, Kirsten B., Lurie, Galina, Wilkens, Lynne R., Carney, Michael E., Wang-Gohrke, Shan, Doherty, Jennifer A., Rossing, Mary Anne, Beckmann, Matthias W., Thiel, Falk C., Ekici, Arif B., Chen, Xiaoqing, Beesley, Jonathan, Gronwald, Jacek, Fasching, Peter A., Chang-Claude, Jenny, Goodman, Marc T., Chenevix-Trench, Georgia, Berchuck, Andrew, Pearce, Leigh C., Whittemore, Alice S., Menon, Usha, Pharoah, Paul D.P., Gayther, Simon A., and Ramus, Susan J.

Published
2011
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9. A Range of Cancers Is Associated with the rs6983267 Marker on Chromosome 8

Author

Wokołorczyk, Dominika, primary, Gliniewicz, Bartłomiej, additional, Sikorski, Andrzej, additional, Złowocka, Elżbieta, additional, Masojć, Bartłomiej, additional, Dębniak, Tadeusz, additional, Matyjasik, Joanna, additional, Mierzejewski, Marek, additional, Mędrek, Krzysztof, additional, Oszutowska, Dorota, additional, Suchy, Janina, additional, Gronwald, Jacek, additional, Teodorczyk, Urszula, additional, Huzarski, Tomasz, additional, Byrski, Tomasz, additional, Jakubowska, Anna, additional, Górski, Bohdan, additional, van de Wetering, Thierry, additional, Walczak, Swietłana, additional, Narod, Steven A., additional, Lubiński, Jan, additional, and Cybulski, Cezary, additional

Published
2008
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10. Genetic contribution to all cancers: the first demonstration using the model of breast cancers from Poland stratified by age at diagnosis and tumour pathology

Author

Lubiński, Jan, primary, Korzeń, Marcin, additional, Górski, Bohdan, additional, Cybulski, Cezary, additional, Dębniak, Tadeusz, additional, Jakubowska, Anna, additional, Jaworska, Katarzyna, additional, Wokołorczyk, Dominika, additional, Mędrek, Krzysztof, additional, Matyjasik, Joanna, additional, Huzarski, Tomasz, additional, Byrski, Tomasz, additional, Gronwald, Jacek, additional, Masojć, Bartłomiej, additional, Lener, Marcin, additional, Szymańska, Anna, additional, Szymańska-Pasternak, Jolanta, additional, Serrano-Fernàndez, Pablo, additional, Piegat, Andrzej, additional, Uciński, Rafał, additional, Domagała, Paweł, additional, Domagała, Wenancjusz, additional, Chosia, Maria, additional, Kładny, Józef, additional, Górecka, Barbara, additional, Narod, Steven, additional, and Scott, Rodney, additional

Published
2008
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12. CDKN2A common variant and multi-organ cancer risk—a population-based study

Author

Dębniak, Tadeusz, primary, Scott, Rodney J., additional, Huzarski, Tomasz, additional, Byrski, Tomasz, additional, Rozmiarek, Andrzej, additional, Dębniak, Boguslaw, additional, Górski, Bohdan, additional, Cybulski, Cezary, additional, Mędrek, Krzysztof, additional, Mierzejewski, Marek, additional, Masojc, Bartłomiej, additional, Matyjasik, Joanna, additional, Złowocka, Elzbieta, additional, Teodorczyk, Urszula, additional, Lener, Marcin, additional, Klujszo-Grabowska, Ewa, additional, Nej-Wołosiak, Katarzyna, additional, Jaworowska, Ewa, additional, Oszutowska, Dorota, additional, Szymańska, Anna, additional, Szymańska, Jolanta, additional, Castaneda, Jennifer, additional, van de Wetering, Thierry, additional, Suchy, Janina, additional, Kurzawski, Grzegorz, additional, Oszurek, Oleg, additional, Narod, Steven, additional, and Lubinski, Jan, additional

Published
2006
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13. A high proportion of founderBRCA1mutations in Polish breast cancer families

Author

Górski, Bohdan, primary, Jakubowska, Anna, additional, Huzarski, Tomasz, additional, Byrski, Tomasz, additional, Gronwald, Jacek, additional, Grzybowska, Ewa, additional, Mackiewicz, Andrzej, additional, Stawicka, Malgorzata, additional, Bębenek, Marek, additional, Sorokin, Dagmara, additional, Fiszer-Maliszewska, Łucja, additional, Haus, Olga, additional, Janiszewska, Hanna, additional, Niepsuj, Stanisław, additional, Góźdź, Stanisław, additional, Zaremba, Lech, additional, Posmyk, Michał, additional, Płużańska, Maria, additional, Kilar, Ewa, additional, Czudowska, Dorota, additional, Waśko, Bernard, additional, Miturski, Roman, additional, Kowalczyk, Jerzy R., additional, Urbański, Krzysztof, additional, Szwiec, Marek, additional, Koc, Jan, additional, Dębniak, Bogusław, additional, Rozmiarek, Andrzej, additional, Dębniak, Tadeusz, additional, Cybulski, Cezary, additional, Kowalska, Elzbieta, additional, Tołoczko-Grabarek, Aleksandra, additional, Zajączek, Stanisław, additional, Menkiszak, Janusz, additional, Mędrek, Krzysztof, additional, Masojć, Bartłomiej, additional, Mierzejewski, Marek, additional, Narod, Steven Alexander, additional, and Lubiński, Jan, additional

Published
2004
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14. Germline mutation and large deletion analysis of the CDKN2A and ARF genes in families with multiple melanoma or an aggregation of malignant melanoma and breast cancer

Author

Dębniak, Tadeusz, primary, Górski, Bohdan, additional, Scott, Rodney J., additional, Cybulski, Cezary, additional, Mędrek, Krzysztof, additional, Zowocka, Elzbieta, additional, Kurzawski, Grzegorz, additional, Dębniak, Boguslaw, additional, Kadny, Józef, additional, Bielecka‐Grzela, Stanislawa, additional, Maleszka, Romuald, additional, and Lubiński, Jan, additional

Published
2004
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15. Germline 657del5 mutation in the NBS1 gene in breast cancer patients

Author

Górski, Bohdan, primary, Dębniak, Tadeusz, additional, Masojć, Bartlomiej, additional, Mierzejewski, Marek, additional, Mędrek, Krzysztof, additional, Cybulski, Cezary, additional, Jakubowska, Anna, additional, Kurzawski, Grzegorz, additional, Chosia, Maria, additional, Scott, Rodney, additional, and Lubiński, Jan, additional

Published
2003
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16. Genotyping by Induced Förster Resonance Energy Transfer (i FRET) Mechanism and Simultaneous Mutation Scanning.

Author

Masojć, Bartłomiej, Górski, Bohdan, van de Wetering, Thierry, Dębniak, Tadeusz, Cybulski, Cezary, Jakubowska, Anna, Mędrek, Krzysztof, Rudnicka, Helena, Dwight, Zachary Lawrence, and Lubiński, Jan

Abstract

ABSTRACT Multiple genotyping techniques were developed on the basis of real-time PCR. In this article, we present a genotyping technique extending the induced Förster resonance energy transfer (i FRET) mechanism in conjunction with simultaneous mutation scanning. Rapid, asymmetric PCR was performed with SYTO9, polymerase lacking 5′ → 3′ exonuclease activity, two primers, and a probe labeled with 6- Carboxy- X-rhodamine. Six primers and probe sets were designed to detect germline mutations in BRCA1, a singular polymorphism in CCND1 and somatic mutations in KRAS and BRAF genes. The validation set consisted of 140 archival DNA samples from patients with previously confirmed BRCA1 mutation and 42 archival formalin-fixed and paraffin-embedded tissues from patients with colorectal cancer or malignant melanoma. BRCA1 and CCND1 genotyping by i FRET probe showed 100% agreement with Sanger sequencing and other validated methods. A combination of i FRET and high-resolution melting analysis ( HRMA) detected a spectrum of six different mutations in the KRAS gene and three different mutations in the BRAF gene. Due to an allele enrichment effect, the sensitivity of mutation detection of i FRET- HRMA genotyping and sequencing of i FRET- HRMA PCR products was significant, increasing from 1.5% to 6.2%, respectively. The technique presented in this article is a useful and cost-effective method for the detection of both germline and somatic mutations. [ABSTRACT FROM AUTHOR]

Published
2013
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17. Common variants at 19p13 are associated with susceptibility to ovarian cancer

Author

Bolton, Kelly L, Tyrer, Jonathan, Song, Honglin, Ramus, Susan J, Notaridou, Maria, Jones, Chris, Sher, Tanya, Gentry-Maharaj, Aleksandra, Wozniak, Eva, Tsai, Ya-Yu, Weidhaas, Joanne, Paik, Daniel, Van Den Berg, David J, Stram, Daniel O, Pearce, Celeste Leigh, Wu, Anna H, Brewster, Wendy, Anton-Culver, Hoda, Ziogas, Argyrios, Narod, Steven A, Levine, Douglas A, Kaye, Stanley B, Brown, Robert, Paul, Jim, Flanagan, James, Sieh, Weiva, McGuire, Valerie, Whittemore, Alice S, Campbell, Ian, Gore, Martin E, Lissowska, Jolanta, Yang, Hanna P, Medrek, Krzysztof, Gronwald, Jacek, Lubinski, Jan, Jakubowska, Anna, Le, Nhu D, Cook, Linda S, Kelemen, Linda E, Brook-Wilson, Angela, Massuger, Leon F A G, Kiemeney, Lambertus A, Aben, Katja K H, van Altena, Anne M, Houlston, Richard, Tomlinson, Ian, Palmieri, Rachel T, Moorman, Patricia G, Schildkraut, Joellen, Iversen, Edwin S, Phelan, Catherine, Vierkant, Robert A, Cunningham, Julie M, Goode, Ellen L, Fridley, Brooke L, Kruger-Kjaer, Susan, Blaeker, Jan, Hogdall, Estrid, Hogdall, Claus, Gross, Jenny, Karlan, Beth Y, Ness, Roberta B, Edwards, Robert P, Odunsi, Kunle, Moyisch, Kirsten B, Baker, Julie A, Modugno, Francesmary, Heikkinenen, Tuomas, Butzow, Ralf, Nevanlinna, Heli, Leminen, Arto, Bogdanova, Natalia, Antonenkova, Natalia, Doerk, Thilo, Hillemanns, Peter, Dürst, Matthias, Runnebaum, Ingo, Thompson, Pamela J, Carney, Michael E, Goodman, Marc T, Lurie, Galina, Wang-Gohrke, Shan, Hein, Rebecca, Chang-Claude, Jenny, Rossing, Mary Anne, Cushing-Haugen, Kara L, Doherty, Jennifer, Chen, Chu, Rafnar, Thorunn, Besenbacher, Soren, Sulem, Patrick, Stefansson, Kari, Birrer, Michael J., Terry, Kathryn, Hernandez, Dena, Cramer, Daniel, Vergote, Ignace, Amant, Frederic, Lambrechts, Diether, Despierre, Evelyn, Fasching, Peter A, Beckmann, Matthias W, Thiel, Falk C, Ekici, Arif B, Chen, Xiaoqing, Johnatty, Sharon E, Webb, Penelope M, Beesley, Jonathan, Chanock, Stephen, Garcia-Closas, Montserrat, Sellers, Tom, Easton, Douglas F, Berchuck, Andrew, Chenevix-Trench, Georgia, Pharoah, Paul D P, and Gayther, Simon A

Abstract

Epithelial ovarian cancer (EOC) is the leading cause of death from gynecological malignancy in the developed world accounting for 4 percent of deaths from cancer in women1. We performed a three-phase genome-wide association study of EOC survival in 8,951 EOC cases with available survival time data, and a parallel association analysis of EOC susceptibility. Two SNPs at 19p13.11, rs8170 and rs2363956, showed evidence of association with survival (overall P=5×10−4 and 6×10−4), but did not replicate in phase 3. However, the same two SNPs demonstrated genome-wide significance for risk of serous EOC (P=3×10−9 and 4×10−11 respectively). Expression analysis of candidate genes at this locus in ovarian tumors supported a role for the BRCA1 interacting gene C19orf62, also known as MERIT40, which contains rs8170, in EOC development., Accepted Manuscript

Published
2010
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18. A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24

Author

Goode, Ellen L, Chenevix-Trench, Georgia, Song, Honglin, Ramus, Susan J, Notaridou, Maria, Lawrenson, Kate, Widschwendter, Martin, Vierkant, Robert A, Larson, Melissa C, Kjaer, Susanne K, Birrer, Michael J., Berchuck, Andrew, Schildkraut, Joellen, Tomlinson, Ian, Kiemeney, Lambertus A, Cook, Linda S, Gronwald, Jacek, Garcia-Closas, Montserrat, Gore, Martin E, Campbell, Ian, Whittemore, Alice S, Sutphen, Rebecca, Phelan, Catherine, Anton-Culver, Hoda, Pearce, Celeste Leigh, Lambrechts, Diether, Rossing, Mary Anne, Chang-Claude, Jenny, Moysich, Kirsten B, Goodman, Marc T, Dörk, Thilo, Nevanlinna, Heli, Ness, Roberta B, Rafnar, Thorunn, Hogdall, Claus, Hogdall, Estrid, Fridley, Brooke L, Cunningham, Julie M, Sieh, Weiva, McGuire, Valerie, Godwin, Andrew K, Cramer, Daniel, Hernandez, Dena, Levine, Douglas, Lu, Karen, Iversen, Edwin S, Palmieri, Rachel T, Houlston, Richard, van Altena, Anne M, Aben, Katja K H, Massuger, Leon F A G, Brooks-Wilson, Angela, Kelemen, Linda E, Le, Nhu D, Jakubowska, Anna, Lubinski, Jan, Medrek, Krzysztof, Stafford, Anne, Easton, Douglas F, Tyrer, Jonathan, Bolton, Kelly L, Harrington, Patricia, Eccles, Diana, Chen, Ann, Molina, Ashley N, Davila, Barbara N, Arango, Hector, Tsai, Ya-Yu, Chen, Zhihua, Risch, Harvey A, McLaughlin, John, Narod, Steven A, Ziogas, Argyrios, Brewster, Wendy, Gentry-Maharaj, Aleksandra, Menon, Usha, Wu, Anna H, Stram, Daniel O, Pike, Malcolm C, Beesley, Jonathan, Webb, Penelope M, Chen, Xiaoqing, Ekici, Arif B, Thiel, Falk C, Beckmann, Matthias W, Yang, Hannah, Wentzensen, Nicolas, Lissowska, Jolanta, Fasching, Peter A, Despierre, Evelyn, Amant, Frederic, Vergote, Ignace, Doherty, Jennifer, Hein, Rebecca, Wang-Gohrke, Shan, Lurie, Galina, Carney, Michael E, Thompson, Pamela J, Runnebaum, Ingo, Hillemanns, Peter, Dürst, Matthias, Antonenkova, Natalia, Bogdanova, Natalia, Leminen, Arto, Butzow, Ralf, Heikkinen, Tuomas, Stefansson, Kari, Sulem, Patrick, Besenbacher, Sören, Sellers, Thomas A, Gayther, Simon A, and Pharoah, Paul D P

Abstract

Ovarian cancer (OC) accounts for more deaths than all other gynecological cancers combined. To identify common low-penetrance OC susceptibility genes, we conducted a genome-wide association study (GWAS) of 507,094 SNPs in 1,768 cases and 2,354 controls, with follow-up of 21,955 SNPs in 4,162 cases and 4,810 controls, leading to the identification of a confirmed susceptibility locus at 9p22 (BNC2)1. Here, we report on nine additional candidate loci (p≤10-4), identified after stratifying cases by histology, genotyped in an additional 4,353 cases and 6,021 controls. Two novel susceptibility loci with p≤5×10-8 were confirmed (8q24, p=8.0×10-15 and 2q31, p=3.8×10-14); two additional loci were also identified that approached genome-wide significance (3q25, p=7.1×10-8 and 17q21, p=1.4×10-7). The associations with serous OC were generally stronger than other subtypes. Analysis of HOXD1, MYC, TiPARP, and SKAP1 at these loci, and BNC2 at 9p22, supports a functional role for these genes in OC development., Accepted Manuscript

Published
2010
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19. A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

Author

Song, Honglin, Ramus, Susan J, Tyrer, Jonathan, Bolton, Kelly L, Gentry-Maharaj, Aleksandra, Wozniak, Eva, Anton-Culver, Hoda, Chang-Claude, Jenny, Cramer, Daniel, DiCioccio, Richard, Dörk, Thilo, Goode, Ellen L, Goodman, Marc T, Schildkraut, Joellen M, Sellers, Thomas, Baglietto, Laura, Beckmann, Matthias W, Beesley, Jonathan, Blaakaer, Jan, Carney, Michael E, Chanock, Stephen, Chen, Zhihua, Cunningham, Julie M, Dicks, Ed, Doherty, Jennifer A, Dürst, Matthias, Ekici, Arif B, Fenstermacher, David, Fridley, Brooke L, Giles, Graham, Gore, Martin E, De Vivo, Immaculata, Hillemanns, Peter, Hogdall, Claus, Hogdall, Estrid, Iversen, Edwin S, Jacobs, Ian J, Jakubowska, Anna, Li, Dong, Lissowska, Jolanta, Lubiński, , Jan, Lurie, Galina, McGuire, Valerie, McLaughlin, John, Mędrek, Krzysztof, Moorman, Patricia G, Moysich, Kirsten, Narod, Steven, Phelan, Catherine, Pye, Carole, Risch, Harvey, Runnebaum, Ingo B, Severi, Gianluca, Southey, Melissa, Stram, Daniel O, Thiel, Falk C, Terry, Kathryn, Tsai, Ya-Yu, Tworoger, Shelley, Van Den Berg, David J, Vierkant, Robert A, Wang-Gohrke, Shan, Webb, Penelope M, Wilkens, Lynne R, Wu, Anna H, Yang, Hannah, Brewster, Wendy, Ziogas, Argyrios, Houlston, Richard, Tomlinson, Ian, Whittemore, Alice S, Rossing, Mary Anne, Ponder, Bruce A J, Pearce, Celeste Leigh, Ness, Roberta B, Menon, Usha, Kjaer, Susanne Krüger, Gronwald, Jacek, Garcia-Closas, Montserrat, Fasching, Peter A, Easton, Douglas F, Chenevix-Trench, Georgia, Berchuck, Andrew, Pharoah, Paul D P, and Gayther, Simon A

Abstract

Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk1. We performed a genome wide association study (GWAS) to identify common ovarian cancer susceptibility alleles. We evaluated 507,094 SNPs genotyped in 1,817 cases and 2,353 controls from the UK and ~2 million imputed SNPs. We genotyped the 22,790 top ranked SNPs in 4,274 cases and 4,809 controls of European ancestry from Europe, USA and Australia. We identified 12 SNPs at 9p22 associated with disease risk (P<10−8). The most significant SNP (rs3814113; P = 2.5 × 10−17) was genotyped in a further 2,670 ovarian cancer cases and 4,668 controls confirming its association (combined data odds ratio = 0.82 95% CI 0.79 – 0.86, P-trend = 5.1 × 10−19). The association differs by histological subtype, being strongest for serous ovarian cancers (OR 0.77 95% CI 0.73 – 0.81, Ptrend = 4.1 × 10−21)., Accepted Manuscript

Published
2009
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20. Atypical Heart Defect in One of the Twins with Trisomy 21

Author

Mędrek, Krzysztof, Piotrowski, Krzysztof, Halec, Wojciech, and Zajączek, Stanisław

Abstract

Twin gestations are higher risk pregnancies for fetal mortality especially when associated with genetic disorder and congenital heart defect which significantly increases the complication risk in the co-twin including fetal loss, premature delivery, and organ damage. In this report, we present a case of dichorionic twins in 41 years old woman. A trisomy 21 was diagnosed in one twin associated with uncharacteristic congenital heart defect resulting in single twin demise in mid-gestation. The effect of regular care and proper management was delivery of healthy surviving twin.

Published
2013
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21. Genotyping by induced Förster Resonance Energy Transfer(iFRET) mechanism and simultaneous mutation scanning.

Author

Masojć B, Górski B, van de Wetering T, Dębniak T, Cybulski C, Jakubowska A, Mędrek K, Rudnicka H, Dwight ZL, and Lubiński J

Subjects
Alleles, Base Sequence, Cyclin D1 genetics, DNA Mutational Analysis, Genes, ras, Genotype, Humans, Polymorphism, Single Nucleotide, Proto-Oncogene Proteins c-raf genetics, Real-Time Polymerase Chain Reaction methods, Transition Temperature, Fluorescence Resonance Energy Transfer, Genotyping Techniques
Abstract

Multiple genotyping techniques were developed on the basis of real-time PCR. In this article, we present a genotyping technique extending the induced Förster resonance energy transfer (iFRET) mechanism in conjunction with simultaneous mutation scanning. Rapid, asymmetric PCR was performed with SYTO9, polymerase lacking 5 → 3 exonuclease activity, two primers, and a probe labeled with 6-Carboxy-X-rhodamine. Six primers and probe sets were designed to detect germline mutations in BRCA1, a singular polymorphism in CCND1 and somatic mutations in KRAS and BRAF genes. The validation set consisted of 140 archival DNA samples from patients with previously confirmed BRCA1 mutation and 42 archival formalin-fixed and paraffin-embedded tissues from patients with colorectal cancer or malignant melanoma. BRCA1 and CCND1 genotyping by iFRET probe showed 100% agreement with Sanger sequencing and other validated methods. A combination of iFRET and high-resolution melting analysis (HRMA) detected a spectrum of six different mutations in the KRAS gene and three different mutations in the BRAF gene. Due to anallele enrichment effect, the sensitivity of mutation detection of iFRET–HRMA genotyping and sequencing of iFRET–HRMA PCR products was significant, increasing from 1.5% to 6.2%, respectively. The technique presented in this article is a useful and cost-effective method for the detection of both germline and somatic mutations.

Published
2013
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