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Article: Loss of heterozygosity, microsatellite instability and TP53 gene status in ovarian carcinomas.

Plisiecka-Hałasa, Joanna / Dansonka-Mieszkowska, Agnieszka / Kraszewska, Ewa / Dańska-Bidzińska, Anna / Kupryjańczyk, Jolanta

Anticancer research

2008 Volume 28, Issue 2A, Page(s) 989–996

Abstract: Background: Microsatellite instability (MSI) and loss of heterozygosity (LOH) are frequent events in ovarian carcinogenesis; however, little is known as to their clinical significance and association with other molecular lesions.: Materials and ... ...

Abstract	Background: Microsatellite instability (MSI) and loss of heterozygosity (LOH) are frequent events in ovarian carcinogenesis; however, little is known as to their clinical significance and association with other molecular lesions. Materials and methods: Twelve microsatellite markers for MSI and LOH analysis were used in 64 ovarian carcinomas with known TP53 mutational status. The clinical importance of molecular alterations was evaluated in a uniform subgroup of patients treated with platinum-based regimens. Results: LOH was detected in order of frequency at 17p13.3 (D17S926, 79%), 17p13.1 (TP53 locus, 69%), 13q14 (RB, 60%), 3p21 (D3S1611, 32.5%), 8q21 (D8S1811, 22%), 11p14/13 (D11S904, 19%), 10qter (D10S197, 13%) and 2p16-21 (D2S123, 11%). LOH at the RB1 locus showed association with LOH at the TP53 locus (p = 0.01). Platinum sensitivity was associated with heterozygosity at the TP53 locus (p = 0.006). Only one tumor displayed microsatellite instability in one marker (RB) only. Conclusion: Our results suggest that LOH at the 17p D17S926 locus in ovarian cancer is an earlier molecular event than LOH at the TP53 locus. Inactivation of TP53 and RB1 genes may have a synergistic effect in ovarian tumorigenesis.
MeSH term(s)	Chromosomes, Human, Pair 17 ; Female ; Genes, p53 ; Humans ; Loss of Heterozygosity ; Microsatellite Instability ; Microsatellite Repeats ; Mutation ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/pathology ; Platinum Compounds/pharmacology
Chemical Substances	Platinum Compounds
Language	English
Publishing date	2008-03
Publishing country	Greece
Document type	Evaluation Studies ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	604549-2
ISSN	1791-7530 ; 0250-7005
ISSN (online)	1791-7530
ISSN	0250-7005
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Article ; Online: Germline SMARCA4 mutations in patients with ovarian small cell carcinoma of hypercalcemic type.

Moes-Sosnowska, Joanna / Szafron, Lukasz / Nowakowska, Dorota / Dansonka-Mieszkowska, Agnieszka / Budzilowska, Agnieszka / Konopka, Bozena / Plisiecka-Halasa, Joanna / Podgorska, Agnieszka / Rzepecka, Iwona K / Kupryjanczyk, Jolanta

Orphanet journal of rare diseases

2015 Volume 10, Page(s) 32

Abstract: Background: SMARCA4 mutations have recently been identified as driving lesions of the ovarian small cell carcinoma of hypercalcemic type (SCCHT). Familial occurrence of this neoplasm was described previously.: Methods: We looked for germline SMARCA4 ... ...

Abstract	Background: SMARCA4 mutations have recently been identified as driving lesions of the ovarian small cell carcinoma of hypercalcemic type (SCCHT). Familial occurrence of this neoplasm was described previously. Methods: We looked for germline SMARCA4 alterations in eight patients with the SCCHT. DNA was extracted from probands' and their relatives' blood. The SMARCA4 coding sequence, previously found altered in all the tumors, was PCR amplified and sequenced in the germline DNA. Results: Two patients carried a heterozygous germline SMARCA4 alteration: c.3760G > T and c.2352insG, respectively. The analysis of the probands' next of kins revealed that the c.3760G > T mutation was inherited by the proband and her sister from their father, and the sisters' four children also carried the mutation. The proband's sister was diagnosed with a carcinoma of the parotid gland at age 2. A brother of the other proband was tested negative. Conclusions: Our study suggests that some women develop the ovarian SCCHT due to the inherited or possibly de novo-occurring germline alterations in the SMARCA4 gene, however, its penetrance appears limited. Nevertheless, because of high aggressiveness of the SCCHT, a molecular diagnostics of the SMARCA4 gene and careful follow-up should be offered to patients with this cancer and their families.
MeSH term(s)	Adult ; Carcinoma, Small Cell/classification ; Carcinoma, Small Cell/genetics ; Carcinoma, Small Cell/metabolism ; Child, Preschool ; DNA Helicases/genetics ; DNA Helicases/metabolism ; Female ; Germ-Line Mutation ; Humans ; Hypercalcemia ; Infant ; Male ; Middle Aged ; Mutation ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Ovarian Neoplasms/classification ; Ovarian Neoplasms/metabolism ; Pedigree ; Transcription Factors/genetics ; Transcription Factors/metabolism ; Young Adult
Chemical Substances	Nuclear Proteins ; Transcription Factors ; SMARCA4 protein, human (EC 3.6.1.-) ; DNA Helicases (EC 3.6.4.-)
Language	English
Publishing date	2015-03-15
Publishing country	England
Document type	Journal Article
ISSN	1750-1172
ISSN (online)	1750-1172
DOI	10.1186/s13023-015-0247-4
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Article: High frequency of allelic loss at the BRCA1 locus in ovarian cancers: clinicopathologic and molecular associations.

Rzepecka, Iwona K / Szafron, Lukasz / Stys, Agnieszka / Bujko, Mateusz / Plisiecka-Halasa, Joanna / Madry, Radoslaw / Osuch, Beata / Markowska, Janina / Bidzinski, Mariusz / Kupryjanczyk, Jolanta

Cancer genetics

2012 Volume 205, Issue 3, Page(s) 94–100

Abstract: BRCA1 dysfunction may occur by different mechanisms that are rarely evaluated concomitantly. We aimed to analyze BRCA1 germline mutations, loss of heterozygosity (LOH) and promoter methylation in unselected ovarian carcinomas in the context of their ... ...

Abstract	BRCA1 dysfunction may occur by different mechanisms that are rarely evaluated concomitantly. We aimed to analyze BRCA1 germline mutations, loss of heterozygosity (LOH) and promoter methylation in unselected ovarian carcinomas in the context of their clinicopathologic characteristics and other molecular changes. BRCA1 mutations were analyzed in 257 carcinomas using single-strand conformation polymorphism (SSCP), heteroduplex, and sequencing methods. LOH at the BRCA1 locus was screened for in 180 cancers. Methylation analysis was performed for 241 tumors using quantitative methylation specific PCR (qMSP). BRCA1 alterations, comprising germline mutations, allelic loss, and/or aberrant promoter methylation, were found in 77.6% (125/161) of ovarian carcinomas. Patients with germline mutations were younger than non-carriers (P < 0.0001). Germline mutations and LOH were associated with advanced stages (P=0.009, P < 0.0001), high tumor grade (P=0.005, P < 0.0001), and TP53 mutations (P=0.003, P < 0.0001, for mutations and LOH, respectively). LOH was also associated with the serous histological type (P=0.004) and PIK3CA amplification (P=0.003). Aberrant promoter methylation was associated with LOH (P=0.017) and absence of germline mutations (P=0.037). The high frequency of LOH at the BRCA1 locus suggests that LOH may be an important mechanism of BRCA1 deficiency in ovarian carcinomas. Tumors with various BRCA1 alterations have a similar phenotype of high-grade, high-stage carcinomas with frequent TP53 mutations.
MeSH term(s)	Adolescent ; Adult ; Aged ; Aged, 80 and over ; Base Sequence ; Class I Phosphatidylinositol 3-Kinases ; DNA Methylation ; Female ; Gene Amplification ; Genes, BRCA1 ; Germ-Line Mutation ; Humans ; Loss of Heterozygosity ; Middle Aged ; Ovarian Neoplasms/genetics ; Phosphatidylinositol 3-Kinases/genetics ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Sequence Analysis, DNA ; Young Adult
Chemical Substances	Phosphatidylinositol 3-Kinases (EC 2.7.1.-) ; Class I Phosphatidylinositol 3-Kinases (EC 2.7.1.137) ; PIK3CA protein, human (EC 2.7.1.137)
Language	English
Publishing date	2012-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	2599227-2
ISSN	2210-7762
ISSN	2210-7762
DOI	10.1016/j.cancergen.2011.12.005
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Article ; Online: rs495139 in the TYMS-ENOSF1 Region and Risk of Ovarian Carcinoma of Mucinous Histology.

Kelemen, Linda E / Earp, Madalene / Fridley, Brooke L / Chenevix-Trench, Georgia / Fasching, Peter A / Beckmann, Matthias W / Ekici, Arif B / Hein, Alexander / Lambrechts, Diether / Lambrechts, Sandrina / Van Nieuwenhuysen, Els / Vergote, Ignace / Rossing, Mary Anne / Doherty, Jennifer A / Chang-Claude, Jenny / Behrens, Sabine / Moysich, Kirsten B / Cannioto, Rikki / Lele, Shashikant /

Odunsi, Kunle / Goodman, Marc T / Shvetsov, Yurii B / Thompson, Pamela J / Wilkens, Lynne R / Dörk, Thilo / Antonenkova, Natalia / Bogdanova, Natalia / Hillemanns, Peter / Runnebaum, Ingo B / du Bois, Andreas / Harter, Philipp / Heitz, Florian / Schwaab, Ira / Butzow, Ralf / Pelttari, Liisa M / Nevanlinna, Heli / Modugno, Francesmary / Edwards, Robert P / Kelley, Joseph L / Ness, Roberta B / Karlan, Beth Y / Lester, Jenny / Orsulic, Sandra / Walsh, Christine / Kjaer, Susanne K / Jensen, Allan / Cunningham, Julie M / Vierkant, Robert A / Giles, Graham G / Bruinsma, Fiona / Southey, Melissa C / Hildebrandt, Michelle A T / Liang, Dong / Lu, Karen / Wu, Xifeng / Sellers, Thomas A / Levine, Douglas A / Schildkraut, Joellen M / Iversen, Edwin S / Terry, Kathryn L / Cramer, Daniel W / Tworoger, Shelley S / Poole, Elizabeth M / Bandera, Elisa V / Olson, Sara H / Orlow, Irene / Vestrheim Thomsen, Liv Cecilie / Bjorge, Line / Krakstad, Camilla / Tangen, Ingvild L / Kiemeney, Lambertus A / Aben, Katja K H / Massuger, Leon F A G / van Altena, Anne M / Pejovic, Tanja / Bean, Yukie / Kellar, Melissa / Cook, Linda S / Le, Nhu D / Brooks-Wilson, Angela / Gronwald, Jacek / Cybulski, Cezary / Jakubowska, Anna / Lubiński, Jan / Wentzensen, Nicolas / Brinton, Louise A / Lissowska, Jolanta / Hogdall, Estrid / Engelholm, Svend Aage / Hogdall, Claus / Lundvall, Lene / Nedergaard, Lotte / Pharoah, Paul D P / Dicks, Ed / Song, Honglin / Tyrer, Jonathan P / McNeish, Iain / Siddiqui, Nadeem / Carty, Karen / Glasspool, Rosalind / Paul, James / Campbell, Ian G / Eccles, Diana / Whittemore, Alice S / McGuire, Valerie / Rothstein, Joseph H / Sieh, Weiva / Narod, Steven A / Phelan, Catherine M / McLaughlin, John R / Risch, Harvey A / Anton-Culver, Hoda / Ziogas, Argyrios / Menon, Usha / Gayther, Simon A / Gentry-Maharaj, Aleksandra / Ramus, Susan J / Wu, Anna H / Pearce, Celeste Leigh / Lee, Alice W / Pike, Malcolm C / Kupryjanczyk, Jolanta / Podgorska, Agnieszka / Plisiecka-Halasa, Joanna / Sawicki, Wlodzimierz / Goode, Ellen L / Berchuck, Andrew

International journal of molecular sciences

2018 Volume 19, Issue 9

Abstract: Thymidylate synthase (TYMS) is a crucial enzyme for DNA synthesis. TYMS expression is regulated by its antisense mRNA, ENOSF1. Disrupted regulation may promote uncontrolled DNA synthesis and tumor growth. We sought to replicate our previously reported ... ...

Abstract	Thymidylate synthase (TYMS) is a crucial enzyme for DNA synthesis. TYMS expression is regulated by its antisense mRNA, ENOSF1. Disrupted regulation may promote uncontrolled DNA synthesis and tumor growth. We sought to replicate our previously reported association between rs495139 in the
MeSH term(s)	Adenocarcinoma, Mucinous/genetics ; Adenocarcinoma, Mucinous/metabolism ; Adenocarcinoma, Mucinous/pathology ; Case-Control Studies ; Female ; Gene Expression Regulation, Neoplastic ; Genetic Association Studies ; Humans ; Hydro-Lyases ; Logistic Models ; Middle Aged ; Odds Ratio ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/metabolism ; Ovarian Neoplasms/pathology ; Polymorphism, Single Nucleotide ; Proteins/genetics ; Proteins/metabolism ; Quantitative Trait Loci ; RNA, Antisense/genetics ; RNA, Antisense/metabolism ; Risk ; Signal Transduction ; Thymidylate Synthase/genetics ; Thymidylate Synthase/metabolism
Chemical Substances	Proteins ; RNA, Antisense ; TYMS protein, human (EC 2.1.1.45) ; Thymidylate Synthase (EC 2.1.1.45) ; ENOSF1 protein, human (EC 4.2.1.-) ; Hydro-Lyases (EC 4.2.1.-)
Language	English
Publishing date	2018-08-21
Publishing country	Switzerland
Document type	Journal Article ; Meta-Analysis
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms19092473
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Article ; Online: Consortium analysis of gene and gene-folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk.

Kelemen, Linda E / Terry, Kathryn L / Goodman, Marc T / Webb, Penelope M / Bandera, Elisa V / McGuire, Valerie / Rossing, Mary Anne / Wang, Qinggang / Dicks, Ed / Tyrer, Jonathan P / Song, Honglin / Kupryjanczyk, Jolanta / Dansonka-Mieszkowska, Agnieszka / Plisiecka-Halasa, Joanna / Timorek, Agnieszka / Menon, Usha / Gentry-Maharaj, Aleksandra / Gayther, Simon A / Ramus, Susan J /

Narod, Steven A / Risch, Harvey A / McLaughlin, John R / Siddiqui, Nadeem / Glasspool, Rosalind / Paul, James / Carty, Karen / Gronwald, Jacek / Lubiński, Jan / Jakubowska, Anna / Cybulski, Cezary / Kiemeney, Lambertus A / Massuger, Leon F A G / van Altena, Anne M / Aben, Katja K H / Olson, Sara H / Orlow, Irene / Cramer, Daniel W / Levine, Douglas A / Bisogna, Maria / Giles, Graham G / Southey, Melissa C / Bruinsma, Fiona / Kjaer, Susanne K / Høgdall, Estrid / Jensen, Allan / Høgdall, Claus K / Lundvall, Lene / Engelholm, Svend-Aage / Heitz, Florian / du Bois, Andreas / Harter, Philipp / Schwaab, Ira / Butzow, Ralf / Nevanlinna, Heli / Pelttari, Liisa M / Leminen, Arto / Thompson, Pamela J / Lurie, Galina / Wilkens, Lynne R / Lambrechts, Diether / Van Nieuwenhuysen, Els / Lambrechts, Sandrina / Vergote, Ignace / Beesley, Jonathan / Fasching, Peter A / Beckmann, Matthias W / Hein, Alexander / Ekici, Arif B / Doherty, Jennifer A / Wu, Anna H / Pearce, Celeste L / Pike, Malcolm C / Stram, Daniel / Chang-Claude, Jenny / Rudolph, Anja / Dörk, Thilo / Dürst, Matthias / Hillemanns, Peter / Runnebaum, Ingo B / Bogdanova, Natalia / Antonenkova, Natalia / Odunsi, Kunle / Edwards, Robert P / Kelley, Joseph L / Modugno, Francesmary / Ness, Roberta B / Karlan, Beth Y / Walsh, Christine / Lester, Jenny / Orsulic, Sandra / Fridley, Brooke L / Vierkant, Robert A / Cunningham, Julie M / Wu, Xifeng / Lu, Karen / Liang, Dong / Hildebrandt, Michelle A T / Weber, Rachel Palmieri / Iversen, Edwin S / Tworoger, Shelley S / Poole, Elizabeth M / Salvesen, Helga B / Krakstad, Camilla / Bjorge, Line / Tangen, Ingvild L / Pejovic, Tanja / Bean, Yukie / Kellar, Melissa / Wentzensen, Nicolas / Brinton, Louise A / Lissowska, Jolanta / Garcia-Closas, Montserrat / Campbell, Ian G / Eccles, Diana / Whittemore, Alice S / Sieh, Weiva / Rothstein, Joseph H / Anton-Culver, Hoda / Ziogas, Argyrios / Phelan, Catherine M / Moysich, Kirsten B / Goode, Ellen L / Schildkraut, Joellen M / Berchuck, Andrew / Pharoah, Paul D P / Sellers, Thomas A / Brooks-Wilson, Angela / Cook, Linda S / Le, Nhu D

Molecular nutrition & food research

2014 Volume 58, Issue 10, Page(s) 2023–2035

Abstract: Scope: We reevaluated previously reported associations between variants in pathways of one-carbon (1-C) (folate) transfer genes and ovarian carcinoma (OC) risk, and in related pathways of purine and pyrimidine metabolism, and assessed interactions with ... ...

Abstract	Scope: We reevaluated previously reported associations between variants in pathways of one-carbon (1-C) (folate) transfer genes and ovarian carcinoma (OC) risk, and in related pathways of purine and pyrimidine metabolism, and assessed interactions with folate intake. Methods and results: Odds ratios (OR) for 446 genetic variants were estimated among 13,410 OC cases and 22,635 controls, and among 2281 cases and 3444 controls with folate information. Following multiple testing correction, the most significant main effect associations were for dihydropyrimidine dehydrogenase (DPYD) variants rs11587873 (OR = 0.92; p = 6 × 10⁻⁵) and rs828054 (OR = 1.06; p = 1 × 10⁻⁴). Thirteen variants in the pyrimidine metabolism genes, DPYD, DPYS, PPAT, and TYMS, also interacted significantly with folate in a multivariant analysis (corrected p = 9.9 × 10⁻⁶) but collectively explained only 0.2% of OC risk. Although no other associations were significant after multiple testing correction, variants in SHMT1 in 1-C transfer, previously reported with OC, suggested lower risk at higher folate (p(interaction) = 0.03-0.006). Conclusion: Variation in pyrimidine metabolism genes, particularly DPYD, which was previously reported to be associated with OC, may influence risk; however, stratification by folate intake is unlikely to modify disease risk appreciably in these women. SHMT1 SNP-by-folate interactions are plausible but require further validation. Polymorphisms in selected genes in purine metabolism were not associated with OC.
MeSH term(s)	Carcinoma/epidemiology ; Carcinoma/etiology ; Carcinoma/genetics ; Carcinoma/prevention & control ; Case-Control Studies ; Diet/adverse effects ; Dietary Supplements ; Dihydrouracil Dehydrogenase (NADP)/genetics ; Dihydrouracil Dehydrogenase (NADP)/metabolism ; Energy Intake ; Female ; Folic Acid/administration & dosage ; Folic Acid/metabolism ; Folic Acid/therapeutic use ; Folic Acid Deficiency/diet therapy ; Folic Acid Deficiency/metabolism ; Folic Acid Deficiency/physiopathology ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Global Health ; Humans ; Multivariate Analysis ; Neoplasm Proteins/genetics ; Neoplasm Proteins/metabolism ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/etiology ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/prevention & control ; Polymorphism, Single Nucleotide ; Risk Factors ; White People
Chemical Substances	Neoplasm Proteins ; Folic Acid (935E97BOY8) ; Dihydrouracil Dehydrogenase (NADP) (EC 1.3.1.2)
Language	English
Publishing date	2014-07-28
Publishing country	Germany
Document type	Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	2160372-8
ISSN	1613-4133 ; 1613-4125
ISSN (online)	1613-4133
ISSN	1613-4125
DOI	10.1002/mnfr.201400068
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Article ; Online: Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study.

Lee, Alice W / Tyrer, Jonathan P / Doherty, Jennifer A / Stram, Douglas A / Kupryjanczyk, Jolanta / Dansonka-Mieszkowska, Agnieszka / Plisiecka-Halasa, Joanna / Spiewankiewicz, Beata / Myers, Emily J / Chenevix-Trench, Georgia / Fasching, Peter A / Beckmann, Matthias W / Ekici, Arif B / Hein, Alexander / Vergote, Ignace / Van Nieuwenhuysen, Els / Lambrechts, Diether / Wicklund, Kristine G / Eilber, Ursula /

Wang-Gohrke, Shan / Chang-Claude, Jenny / Rudolph, Anja / Sucheston-Campbell, Lara / Odunsi, Kunle / Moysich, Kirsten B / Shvetsov, Yurii B / Thompson, Pamela J / Goodman, Marc T / Wilkens, Lynne R / Dörk, Thilo / Hillemanns, Peter / Dürst, Matthias / Runnebaum, Ingo B / Bogdanova, Natalia / Pelttari, Liisa M / Nevanlinna, Heli / Leminen, Arto / Edwards, Robert P / Kelley, Joseph L / Harter, Philipp / Schwaab, Ira / Heitz, Florian / du Bois, Andreas / Orsulic, Sandra / Lester, Jenny / Walsh, Christine / Karlan, Beth Y / Hogdall, Estrid / Kjaer, Susanne K / Jensen, Allan / Vierkant, Robert A / Cunningham, Julie M / Goode, Ellen L / Fridley, Brooke L / Southey, Melissa C / Giles, Graham G / Bruinsma, Fiona / Wu, Xifeng / Hildebrandt, Michelle A T / Lu, Karen / Liang, Dong / Bisogna, Maria / Levine, Douglas A / Weber, Rachel Palmieri / Schildkraut, Joellen M / Iversen, Edwin S / Berchuck, Andrew / Terry, Kathryn L / Cramer, Daniel W / Tworoger, Shelley S / Poole, Elizabeth M / Olson, Sara H / Orlow, Irene / Bandera, Elisa V / Bjorge, Line / Tangen, Ingvild L / Salvesen, Helga B / Krakstad, Camilla / Massuger, Leon F A G / Kiemeney, Lambertus A / Aben, Katja K H / van Altena, Anne M / Bean, Yukie / Pejovic, Tanja / Kellar, Melissa / Le, Nhu D / Cook, Linda S / Kelemen, Linda E / Brooks-Wilson, Angela / Lubinski, Jan / Gronwald, Jacek / Cybulski, Cezary / Jakubowska, Anna / Wentzensen, Nicolas / Brinton, Louise A / Lissowska, Jolanta / Yang, Hannah / Nedergaard, Lotte / Lundvall, Lene / Hogdall, Claus / Song, Honglin / Campbell, Ian G / Eccles, Diana / Glasspool, Rosalind / Siddiqui, Nadeem / Carty, Karen / Paul, James / McNeish, Iain A / Sieh, Weiva / McGuire, Valerie / Rothstein, Joseph H / Whittemore, Alice S / McLaughlin, John R / Risch, Harvey A / Phelan, Catherine M / Anton-Culver, Hoda / Ziogas, Argyrios / Menon, Usha / Ramus, Susan J / Gentry-Maharaj, Aleksandra / Harrington, Patricia / Pike, Malcolm C / Modugno, Francesmary / Rossing, Mary Anne / Ness, Roberta B / Pharoah, Paul D P / Stram, Daniel O / Wu, Anna H / Pearce, Celeste Leigh

Gynecologic oncology

2014 Volume 136, Issue 3, Page(s) 542–548

Abstract: Objective: Ovarian cancer is a hormone-related disease with a strong genetic basis. However, none of its high-penetrance susceptibility genes and GWAS-identified variants to date are known to be involved in hormonal pathways. Given the hypothesized ... ...

Abstract	Objective: Ovarian cancer is a hormone-related disease with a strong genetic basis. However, none of its high-penetrance susceptibility genes and GWAS-identified variants to date are known to be involved in hormonal pathways. Given the hypothesized etiologic role of gonadotropins, an assessment of how variability in genes involved in the gonadotropin signaling pathway impacts disease risk is warranted. Methods: Genetic data from 41 ovarian cancer study sites were pooled and unconditional logistic regression was used to evaluate whether any of the 2185 SNPs from 11 gonadotropin signaling pathway genes was associated with ovarian cancer risk. A burden test using the admixture likelihood (AML) method was also used to evaluate gene-level associations. Results: We did not find any genome-wide significant associations between individual SNPs and ovarian cancer risk. However, there was some suggestion of gene-level associations for four gonadotropin signaling pathway genes: INHBB (p=0.045, mucinous), LHCGR (p=0.046, high-grade serous), GNRH (p=0.041, high-grade serous), and FSHB (p=0.036, overall invasive). There was also suggestive evidence for INHA (p=0.060, overall invasive). Conclusions: Ovarian cancer studies have limited sample numbers, thus fewer genome-wide susceptibility alleles, with only modest associations, have been identified relative to breast and prostate cancers. We have evaluated the majority of ovarian cancer studies with biological samples, to our knowledge, leaving no opportunity for replication. Using both our understanding of biology and powerful gene-level tests, we have identified four putative ovarian cancer loci near INHBB, LHCGR, GNRH, and FSHB that warrant a second look if larger sample sizes and denser genotype chips become available.
MeSH term(s)	Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; Case-Control Studies ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Gonadotropins/metabolism ; Humans ; Logistic Models ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/metabolism ; Polymorphism, Single Nucleotide ; Risk Factors ; Signal Transduction
Chemical Substances	Biomarkers, Tumor ; Genetic Markers ; Gonadotropins
Language	English
Publishing date	2014-12-17
Publishing country	United States
Document type	Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	801461-9
ISSN	1095-6859 ; 0090-8258
ISSN (online)	1095-6859
ISSN	0090-8258
DOI	10.1016/j.ygyno.2014.12.017
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Article: Consortium analysis of gene and gene–folate interactions in purine and pyrimidine metabolism pathways with ovarian carcinoma risk

Kelemen, Linda E / Terry, Kathryn L / Goodman, Marc T / Webb, Penelope M / Bandera, Elisa V / McGuire, Valerie / Rossing, Mary Anne / Wang, Qinggang / Dicks, Ed / Tyrer, Jonathan P / Song, Honglin / Kupryjanczyk, Jolanta / Dansonka‐Mieszkowska, Agnieszka / Plisiecka‐Halasa, Joanna / Timorek, Agnieszka / Menon, Usha / Gentry‐Maharaj, Aleksandra / Gayther, Simon A / Ramus, Susan J /

Narod, Steven A / Risch, Harvey A / McLaughlin, John R / Siddiqui, Nadeem / Glasspool, Rosalind / Paul, James / Carty, Karen / Gronwald, Jacek / Lubiński, Jan / Jakubowska, Anna / Cybulski, Cezary / Kiemeney, Lambertus A / Massuger, Leon F. A. G / Altena, Anne M / Aben, Katja K. H / Olson, Sara H / Orlow, Irene / Cramer, Daniel W / Levine, Douglas A / Bisogna, Maria / Giles, Graham G / Southey, Melissa C / Bruinsma, Fiona / Kjær, Susanne K / Høgdall, Estrid / Jensen, Allan / Høgdall, Claus K / Lundvall, Lene / Engelholm, Svend‐Aage / Heitz, Florian / du Bois, Andreas / Harter, Philipp / Schwaab, Ira / Butzow, Ralf / Nevanlinna, Heli / Pelttari, Liisa M / Leminen, Arto / Thompson, Pamela J / Lurie, Galina / Wilkens, Lynne R / Lambrechts, Diether / Van Nieuwenhuysen, Els / Lambrechts, Sandrina / Vergote, Ignace / Beesley, Jonathan / Fasching, Peter A / Beckmann, Matthias W / Hein, Alexander / Ekici, Arif B / Doherty, Jennifer A / Wu, Anna H / Pearce, Celeste L / Pike, Malcolm C / Stram, Daniel / Chang‐Claude, Jenny / Rudolph, Anja / Dörk, Thilo / Dürst, Matthias / Hillemanns, Peter / Runnebaum, Ingo B / Bogdanova, Natalia / Antonenkova, Natalia / Odunsi, Kunle / Edwards, Robert P / Kelley, Joseph L / Modugno, Francesmary / Ness, Roberta B / Karlan, Beth Y / Walsh, Christine / Lester, Jenny / Orsulic, Sandra / Fridley, Brooke L / Vierkant, Robert A / Cunningham, Julie M / Wu, Xifeng / Lu, Karen / Liang, Dong / Hildebrandt, Michelle A.T / Weber, Rachel Palmieri / Iversen, Edwin S / Tworoger, Shelley S / Poole, Elizabeth M / Salvesen, Helga B / Krakstad, Camilla / Bjorge, Line / Tangen, Ingvild L / Pejovic, Tanja / Bean, Yukie / Kellar, Melissa / Wentzensen, Nicolas / Brinton, Louise A / Lissowska, Jolanta / Garcia‐Closas, Montserrat / Campbell, Ian G / Eccles, Diana / Whittemore, Alice S / Sieh, Weiva / Rothstein, Joseph H / Anton‐Culver, Hoda / Ziogas, Argyrios / Phelan, Catherine M / Moysich, Kirsten B / Goode, Ellen L / Schildkraut, Joellen M / Berchuck, Andrew / Pharoah, Paul D.P / Sellers, Thomas A / Brooks‐Wilson, Angela / Cook, Linda S / Le, Nhu D

Molecular nutrition & food research. 2014 Oct., v. 58, no. 10

2014

Abstract: SCOPE: We reevaluated previously reported associations between variants in pathways of one‐carbon (1‐C) (folate) transfer genes and ovarian carcinoma (OC) risk, and in related pathways of purine and pyrimidine metabolism, and assessed interactions with ... ...

Institution	AOCS Study Group/ACS Investigators
Abstract	SCOPE: We reevaluated previously reported associations between variants in pathways of one‐carbon (1‐C) (folate) transfer genes and ovarian carcinoma (OC) risk, and in related pathways of purine and pyrimidine metabolism, and assessed interactions with folate intake. METHODS AND RESULTS: Odds ratios (OR) for 446 genetic variants were estimated among 13 410 OC cases and 22 635 controls, and among 2281 cases and 3444 controls with folate information. Following multiple testing correction, the most significant main effect associations were for dihydropyrimidine dehydrogenase (DPYD) variants rs11587873 (OR = 0.92; p = 6 × 10⁻⁵) and rs828054 (OR = 1.06; p = 1 × 10⁻⁴). Thirteen variants in the pyrimidine metabolism genes, DPYD, DPYS, PPAT, and TYMS, also interacted significantly with folate in a multivariant analysis (corrected p = 9.9 × 10⁻⁶) but collectively explained only 0.2% of OC risk. Although no other associations were significant after multiple testing correction, variants in SHMT1 in 1‐C transfer, previously reported with OC, suggested lower risk at higher folate (pᵢₙₜₑᵣₐcₜᵢₒₙ = 0.03–0.006). CONCLUSION: Variation in pyrimidine metabolism genes, particularly DPYD, which was previously reported to be associated with OC, may influence risk; however, stratification by folate intake is unlikely to modify disease risk appreciably in these women. SHMT1 SNP‐by‐folate interactions are plausible but require further validation. Polymorphisms in selected genes in purine metabolism were not associated with OC.
Keywords	animal ovaries ; carcinoma ; folic acid ; genes ; metabolism ; nutrition risk assessment ; nutrition-genotype interaction ; odds ratio ; risk ; women
Language	English
Dates of publication	2014-10
Size	p. 2023-2035.
Publishing place	Wiley-VCH
Document type	Article
ZDB-ID	2160372-8
ISSN	1613-4133 ; 1613-4125
ISSN (online)	1613-4133
ISSN	1613-4125
DOI	10.1002/mnfr.201400068
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Assessment of variation in immunosuppressive pathway genes reveals TGFBR2 to be associated with risk of clear cell ovarian cancer.

Hampras, Shalaka S / Sucheston-Campbell, Lara E / Cannioto, Rikki / Chang-Claude, Jenny / Modugno, Francesmary / Dörk, Thilo / Hillemanns, Peter / Preus, Leah / Knutson, Keith L / Wallace, Paul K / Hong, Chi-Chen / Friel, Grace / Davis, Warren / Nesline, Mary / Pearce, Celeste L / Kelemen, Linda E / Goodman, Marc T / Bandera, Elisa V / Terry, Kathryn L /

Schoof, Nils / Eng, Kevin H / Clay, Alyssa / Singh, Prashant K / Joseph, Janine M / Aben, Katja K H / Anton-Culver, Hoda / Antonenkova, Natalia / Baker, Helen / Bean, Yukie / Beckmann, Matthias W / Bisogna, Maria / Bjorge, Line / Bogdanova, Natalia / Brinton, Louise A / Brooks-Wilson, Angela / Bruinsma, Fiona / Butzow, Ralf / Campbell, Ian G / Carty, Karen / Cook, Linda S / Cramer, Daniel W / Cybulski, Cezary / Dansonka-Mieszkowska, Agnieszka / Dennis, Joe / Despierre, Evelyn / Dicks, Ed / Doherty, Jennifer A / du Bois, Andreas / Dürst, Matthias / Easton, Doug / Eccles, Diana / Edwards, Robert P / Ekici, Arif B / Fasching, Peter A / Fridley, Brooke L / Gao, Yu-Tang / Gentry-Maharaj, Aleksandra / Giles, Graham G / Glasspool, Rosalind / Gronwald, Jacek / Harrington, Patricia / Harter, Philipp / Hasmad, Hanis Nazihah / Hein, Alexander / Heitz, Florian / Hildebrandt, Michelle A T / Hogdall, Claus / Hogdall, Estrid / Hosono, Satoyo / Iversen, Edwin S / Jakubowska, Anna / Jensen, Allan / Ji, Bu-Tian / Karlan, Beth Y / Kellar, Melissa / Kelley, Joseph L / Kiemeney, Lambertus A / Klapdor, Rüdiger / Kolomeyevskaya, Nonna / Krakstad, Camilla / Kjaer, Susanne K / Kruszka, Bridget / Kupryjanczyk, Jolanta / Lambrechts, Diether / Lambrechts, Sandrina / Le, Nhu D / Lee, Alice W / Lele, Shashikant / Leminen, Arto / Lester, Jenny / Levine, Douglas A / Liang, Dong / Lissowska, Jolanta / Liu, Song / Lu, Karen / Lubinski, Jan / Lundvall, Lene / Massuger, Leon F A G / Matsuo, Keitaro / McGuire, Valeria / McLaughlin, John R / McNeish, Ian / Menon, Usha / Moes-Sosnowska, Joanna / Narod, Steven A / Nedergaard, Lotte / Nevanlinna, Heli / Nickels, Stefan / Olson, Sara H / Orlow, Irene / Weber, Rachel Palmieri / Paul, James / Pejovic, Tanja / Pelttari, Liisa M / Perkins, Barbara / Permuth-Wey, Jenny / Pike, Malcolm C / Plisiecka-Halasa, Joanna / Poole, Elizabeth M / Risch, Harvey A / Rossing, Mary Anne / Rothstein, Joseph H / Rudolph, Anja / Runnebaum, Ingo B / Rzepecka, Iwona K / Salvesen, Helga B / Schernhammer, Eva / Schmitt, Kristina / Schwaab, Ira / Shu, Xiao-Ou / Shvetsov, Yurii B / Siddiqui, Nadeem / Sieh, Weiva / Song, Honglin / Southey, Melissa C / Tangen, Ingvild L / Teo, Soo-Hwang / Thompson, Pamela J / Timorek, Agnieszka / Tsai, Ya-Yu / Tworoger, Shelley S / Tyrer, Jonathan / van Altena, Anna M / Vergote, Ignace / Vierkant, Robert A / Walsh, Christine / Wang-Gohrke, Shan / Wentzensen, Nicolas / Whittemore, Alice S / Wicklund, Kristine G / Wilkens, Lynne R / Wu, Anna H / Wu, Xifeng / Woo, Yin-Ling / Yang, Hannah / Zheng, Wei / Ziogas, Argyrios / Gayther, Simon A / Ramus, Susan J / Sellers, Thomas A / Schildkraut, Joellen M / Phelan, Catherine M / Berchuck, Andrew / Chenevix-Trench, Georgia / Cunningham, Julie M / Pharoah, Paul P / Ness, Roberta B / Odunsi, Kunle / Goode, Ellen L / Moysich, Kirsten B

Oncotarget

2016 Volume 7, Issue 43, Page(s) 69097–69110

Abstract: Background: Regulatory T (Treg) cells, a subset of CD4+ T lymphocytes, are mediators of immunosuppression in cancer, and, thus, variants in genes encoding Treg cell immune molecules could be associated with ovarian cancer.: Methods: In a population ... ...

Abstract	Background: Regulatory T (Treg) cells, a subset of CD4+ T lymphocytes, are mediators of immunosuppression in cancer, and, thus, variants in genes encoding Treg cell immune molecules could be associated with ovarian cancer. Methods: In a population of 15,596 epithelial ovarian cancer (EOC) cases and 23,236 controls, we measured genetic associations of 1,351 SNPs in Treg cell pathway genes with odds of ovarian cancer and tested pathway and gene-level associations, overall and by histotype, for the 25 genes, using the admixture likelihood (AML) method. The most significant single SNP associations were tested for correlation with expression levels in 44 ovarian cancer patients. Results: The most significant global associations for all genes in the pathway were seen in endometrioid ( p = 0.082) and clear cell ( p = 0.083), with the most significant gene level association seen with TGFBR2 ( p = 0.001) and clear cell EOC. Gene associations with histotypes at p < 0.05 included: IL12 ( p = 0.005 and p = 0.008, serous and high-grade serous, respectively), IL8RA ( p = 0.035, endometrioid and mucinous), LGALS1 ( p = 0.03, mucinous), STAT5B ( p = 0.022, clear cell), TGFBR1 ( p = 0.021 endometrioid) and TGFBR2 ( p = 0.017 and p = 0.025, endometrioid and mucinous, respectively). Conclusions: Common inherited gene variation in Treg cell pathways shows some evidence of germline genetic contribution to odds of EOC that varies by histologic subtype and may be associated with mRNA expression of immune-complex receptor in EOC patients.
MeSH term(s)	Adenocarcinoma, Clear Cell/genetics ; Adenocarcinoma, Clear Cell/immunology ; Adult ; Aged ; Carcinoma, Ovarian Epithelial ; Female ; Gene Expression Regulation, Neoplastic ; Gene Frequency ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Middle Aged ; Neoplasms, Glandular and Epithelial/genetics ; Neoplasms, Glandular and Epithelial/immunology ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/immunology ; Polymorphism, Single Nucleotide ; Protein Serine-Threonine Kinases/genetics ; Receptor, Transforming Growth Factor-beta Type II ; Receptors, Transforming Growth Factor beta/genetics ; Risk Factors ; T-Lymphocytes, Regulatory/immunology ; T-Lymphocytes, Regulatory/metabolism
Chemical Substances	Receptors, Transforming Growth Factor beta ; Protein Serine-Threonine Kinases (EC 2.7.11.1) ; Receptor, Transforming Growth Factor-beta Type II (EC 2.7.11.30)
Language	English
Publishing date	2016-08-17
Publishing country	United States
Document type	Journal Article
ZDB-ID	2560162-3
ISSN	1949-2553 ; 1949-2553
ISSN (online)	1949-2553
ISSN	1949-2553
DOI	10.18632/oncotarget.10215
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer.

Lawrenson, Kate / Iversen, Edwin S / Tyrer, Jonathan / Weber, Rachel Palmieri / Concannon, Patrick / Hazelett, Dennis J / Li, Qiyuan / Marks, Jeffrey R / Berchuck, Andrew / Lee, Janet M / Aben, Katja K H / Anton-Culver, Hoda / Antonenkova, Natalia / Bandera, Elisa V / Bean, Yukie / Beckmann, Matthias W / Bisogna, Maria / Bjorge, Line / Bogdanova, Natalia /

Brinton, Louise A / Brooks-Wilson, Angela / Bruinsma, Fiona / Butzow, Ralf / Campbell, Ian G / Carty, Karen / Chang-Claude, Jenny / Chenevix-Trench, Georgia / Chen, Ann / Chen, Zhihua / Cook, Linda S / Cramer, Daniel W / Cunningham, Julie M / Cybulski, Cezary / Plisiecka-Halasa, Joanna / Dennis, Joe / Dicks, Ed / Doherty, Jennifer A / Dörk, Thilo / du Bois, Andreas / Eccles, Diana / Easton, Douglas T / Edwards, Robert P / Eilber, Ursula / Ekici, Arif B / Fasching, Peter A / Fridley, Brooke L / Gao, Yu-Tang / Gentry-Maharaj, Aleksandra / Giles, Graham G / Glasspool, Rosalind / Goode, Ellen L / Goodman, Marc T / Gronwald, Jacek / Harter, Philipp / Hasmad, Hanis Nazihah / Hein, Alexander / Heitz, Florian / Hildebrandt, Michelle A T / Hillemanns, Peter / Hogdall, Estrid / Hogdall, Claus / Hosono, Satoyo / Jakubowska, Anna / Paul, James / Jensen, Allan / Karlan, Beth Y / Kjaer, Susanne Kruger / Kelemen, Linda E / Kellar, Melissa / Kelley, Joseph L / Kiemeney, Lambertus A / Krakstad, Camilla / Lambrechts, Diether / Lambrechts, Sandrina / Le, Nhu D / Lee, Alice W / Cannioto, Rikki / Leminen, Arto / Lester, Jenny / Levine, Douglas A / Liang, Dong / Lissowska, Jolanta / Lu, Karen / Lubinski, Jan / Lundvall, Lene / Massuger, Leon F A G / Matsuo, Keitaro / McGuire, Valerie / McLaughlin, John R / Nevanlinna, Heli / McNeish, Iain / Menon, Usha / Modugno, Francesmary / Moysich, Kirsten B / Narod, Steven A / Nedergaard, Lotte / Ness, Roberta B / Noor Azmi, Mat Adenan / Odunsi, Kunle / Olson, Sara H / Orlow, Irene / Orsulic, Sandra / Pearce, Celeste L / Pejovic, Tanja / Pelttari, Liisa M / Permuth-Wey, Jennifer / Phelan, Catherine M / Pike, Malcolm C / Poole, Elizabeth M / Ramus, Susan J / Risch, Harvey A / Rosen, Barry / Rossing, Mary Anne / Rothstein, Joseph H / Rudolph, Anja / Runnebaum, Ingo B / Rzepecka, Iwona K / Salvesen, Helga B / Budzilowska, Agnieszka / Sellers, Thomas A / Shu, Xiao-Ou / Shvetsov, Yurii B / Siddiqui, Nadeem / Sieh, Weiva / Song, Honglin / Southey, Melissa C / Sucheston, Lara / Tangen, Ingvild L / Teo, Soo-Hwang / Terry, Kathryn L / Thompson, Pamela J / Timorek, Agnieszka / Tworoger, Shelley S / Van Nieuwenhuysen, Els / Vergote, Ignace / Vierkant, Robert A / Wang-Gohrke, Shan / Walsh, Christine / Wentzensen, Nicolas / Whittemore, Alice S / Wicklund, Kristine G / Wilkens, Lynne R / Woo, Yin-Ling / Wu, Xifeng / Wu, Anna H / Yang, Hannah / Zheng, Wei / Ziogas, Argyrios / Coetzee, Gerhard A / Freedman, Matthew L / Monteiro, Alvaro N A / Moes-Sosnowska, Joanna / Kupryjanczyk, Jolanta / Pharoah, Paul D / Gayther, Simon A / Schildkraut, Joellen M

Carcinogenesis

2015 Volume 36, Issue 11, Page(s) 1341–1353

Abstract: Genome-wide association studies have identified 20 genomic regions associated with risk of epithelial ovarian cancer (EOC), but many additional risk variants may exist. Here, we evaluated associations between common genetic variants [single nucleotide ... ...

Abstract	Genome-wide association studies have identified 20 genomic regions associated with risk of epithelial ovarian cancer (EOC), but many additional risk variants may exist. Here, we evaluated associations between common genetic variants [single nucleotide polymorphisms (SNPs) and indels] in DNA repair genes and EOC risk. We genotyped 2896 common variants at 143 gene loci in DNA samples from 15 397 patients with invasive EOC and controls. We found evidence of associations with EOC risk for variants at FANCA, EXO1, E2F4, E2F2, CREB5 and CHEK2 genes (P ≤ 0.001). The strongest risk association was for CHEK2 SNP rs17507066 with serous EOC (P = 4.74 x 10(-7)). Additional genotyping and imputation of genotypes from the 1000 genomes project identified a slightly more significant association for CHEK2 SNP rs6005807 (r (2) with rs17507066 = 0.84, odds ratio (OR) 1.17, 95% CI 1.11-1.24, P = 1.1×10(-7)). We identified 293 variants in the region with likelihood ratios of less than 1:100 for representing the causal variant. Functional annotation identified 25 candidate SNPs that alter transcription factor binding sites within regulatory elements active in EOC precursor tissues. In The Cancer Genome Atlas dataset, CHEK2 gene expression was significantly higher in primary EOCs compared to normal fallopian tube tissues (P = 3.72×10(-8)). We also identified an association between genotypes of the candidate causal SNP rs12166475 (r (2) = 0.99 with rs6005807) and CHEK2 expression (P = 2.70×10(-8)). These data suggest that common variants at 22q12.1 are associated with risk of serous EOC and CHEK2 as a plausible target susceptibility gene.
MeSH term(s)	Carcinoma, Ovarian Epithelial ; Case-Control Studies ; Checkpoint Kinase 2/genetics ; Female ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Neoplasms, Glandular and Epithelial/genetics ; Ovarian Neoplasms/genetics ; Polymorphism, Single Nucleotide ; Quantitative Trait Loci ; Risk Factors
Chemical Substances	Checkpoint Kinase 2 (EC 2.7.1.11) ; CHEK2 protein, human (EC 2.7.11.1)
Language	English
Publishing date	2015-09-29
Publishing country	England
Document type	Journal Article ; Meta-Analysis ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	603134-1
ISSN	1460-2180 ; 0143-3334
ISSN (online)	1460-2180
ISSN	0143-3334
DOI	10.1093/carcin/bgv138
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article ; Online: PALB2, CHEK2 and ATM rare variants and cancer risk: data from COGS.

Southey, Melissa C / Goldgar, David E / Winqvist, Robert / Pylkäs, Katri / Couch, Fergus / Tischkowitz, Marc / Foulkes, William D / Dennis, Joe / Michailidou, Kyriaki / van Rensburg, Elizabeth J / Heikkinen, Tuomas / Nevanlinna, Heli / Hopper, John L / Dörk, Thilo / Claes, Kathleen Bm / Reis-Filho, Jorge / Teo, Zhi Ling / Radice, Paolo / Catucci, Irene /

Peterlongo, Paolo / Tsimiklis, Helen / Odefrey, Fabrice A / Dowty, James G / Schmidt, Marjanka K / Broeks, Annegien / Hogervorst, Frans B / Verhoef, Senno / Carpenter, Jane / Clarke, Christine / Scott, Rodney J / Fasching, Peter A / Haeberle, Lothar / Ekici, Arif B / Beckmann, Matthias W / Peto, Julian / Dos-Santos-Silva, Isabel / Fletcher, Olivia / Johnson, Nichola / Bolla, Manjeet K / Sawyer, Elinor J / Tomlinson, Ian / Kerin, Michael J / Miller, Nicola / Marme, Federik / Burwinkel, Barbara / Yang, Rongxi / Guénel, Pascal / Truong, Thérèse / Menegaux, Florence / Sanchez, Marie / Bojesen, Stig / Nielsen, Sune F / Flyger, Henrik / Benitez, Javier / Zamora, M Pilar / Perez, Jose Ignacio Arias / Menéndez, Primitiva / Anton-Culver, Hoda / Neuhausen, Susan / Ziogas, Argyrios / Clarke, Christina A / Brenner, Hermann / Arndt, Volker / Stegmaier, Christa / Brauch, Hiltrud / Brüning, Thomas / Ko, Yon-Dschun / Muranen, Taru A / Aittomäki, Kristiina / Blomqvist, Carl / Bogdanova, Natalia V / Antonenkova, Natalia N / Lindblom, Annika / Margolin, Sara / Mannermaa, Arto / Kataja, Vesa / Kosma, Veli-Matti / Hartikainen, Jaana M / Spurdle, Amanda B / Investigators, kConFab / Wauters, Els / Smeets, Dominiek / Beuselinck, Benoit / Floris, Giuseppe / Chang-Claude, Jenny / Rudolph, Anja / Seibold, Petra / Flesch-Janys, Dieter / Olson, Janet E / Vachon, Celine / Pankratz, Vernon S / McLean, Catriona / Haiman, Christopher A / Henderson, Brian E / Schumacher, Fredrick / Le Marchand, Loic / Kristensen, Vessela / Alnæs, Grethe Grenaker / Zheng, Wei / Hunter, David J / Lindstrom, Sara / Hankinson, Susan E / Kraft, Peter / Andrulis, Irene / Knight, Julia A / Glendon, Gord / Mulligan, Anna Marie / Jukkola-Vuorinen, Arja / Grip, Mervi / Kauppila, Saila / Devilee, Peter / Tollenaar, Robert A E M / Seynaeve, Caroline / Hollestelle, Antoinette / Garcia-Closas, Montserrat / Figueroa, Jonine / Chanock, Stephen J / Lissowska, Jolanta / Czene, Kamila / Darabi, Hatef / Eriksson, Mikael / Eccles, Diana M / Rafiq, Sajjad / Tapper, William J / Gerty, Sue M / Hooning, Maartje J / Martens, John W M / Collée, J Margriet / Tilanus-Linthorst, Madeleine / Hall, Per / Li, Jingmei / Brand, Judith S / Humphreys, Keith / Cox, Angela / Reed, Malcolm W R / Luccarini, Craig / Baynes, Caroline / Dunning, Alison M / Hamann, Ute / Torres, Diana / Ulmer, Hans Ulrich / Rüdiger, Thomas / Jakubowska, Anna / Lubinski, Jan / Jaworska, Katarzyna / Durda, Katarzyna / Slager, Susan / Toland, Amanda E / Ambrosone, Christine B / Yannoukakos, Drakoulis / Swerdlow, Anthony / Ashworth, Alan / Orr, Nick / Jones, Michael / González-Neira, Anna / Pita, Guillermo / Alonso, M Rosario / Álvarez, Nuria / Herrero, Daniel / Tessier, Daniel C / Vincent, Daniel / Bacot, Francois / Simard, Jacques / Dumont, Martine / Soucy, Penny / Eeles, Rosalind / Muir, Kenneth / Wiklund, Fredrik / Gronberg, Henrik / Schleutker, Johanna / Nordestgaard, Børge G / Weischer, Maren / Travis, Ruth C / Neal, David / Donovan, Jenny L / Hamdy, Freddie C / Khaw, Kay-Tee / Stanford, Janet L / Blot, William J / Thibodeau, Stephen / Schaid, Daniel J / Kelley, Joseph L / Maier, Christiane / Kibel, Adam S / Cybulski, Cezary / Cannon-Albright, Lisa / Butterbach, Katja / Park, Jong / Kaneva, Radka / Batra, Jyotsna / Teixeira, Manuel R / Kote-Jarai, Zsofia / Olama, Ali Amin Al / Benlloch, Sara / Renner, Stefan P / Hartmann, Arndt / Hein, Alexander / Ruebner, Matthias / Lambrechts, Diether / Van Nieuwenhuysen, Els / Vergote, Ignace / Lambretchs, Sandrina / Doherty, Jennifer A / Rossing, Mary Anne / Nickels, Stefan / Eilber, Ursula / Wang-Gohrke, Shan / Odunsi, Kunle / Sucheston-Campbell, Lara E / Friel, Grace / Lurie, Galina / Killeen, Jeffrey L / Wilkens, Lynne R / Goodman, Marc T / Runnebaum, Ingo / Hillemanns, Peter A / Pelttari, Liisa M / Butzow, Ralf / Modugno, Francesmary / Edwards, Robert P / Ness, Roberta B / Moysich, Kirsten B / du Bois, Andreas / Heitz, Florian / Harter, Philipp / Kommoss, Stefan / Karlan, Beth Y / Walsh, Christine / Lester, Jenny / Jensen, Allan / Kjaer, Susanne Krüger / Høgdall, Estrid / Peissel, Bernard / Bonanni, Bernardo / Bernard, Loris / Goode, Ellen L / Fridley, Brooke L / Vierkant, Robert A / Cunningham, Julie M / Larson, Melissa C / Fogarty, Zachary C / Kalli, Kimberly R / Liang, Dong / Lu, Karen H / Hildebrandt, Michelle A T / Wu, Xifeng / Levine, Douglas A / Dao, Fanny / Bisogna, Maria / Berchuck, Andrew / Iversen, Edwin S / Marks, Jeffrey R / Akushevich, Lucy / Cramer, Daniel W / Schildkraut, Joellen / Terry, Kathryn L / Poole, Elizabeth M / Stampfer, Meir / Tworoger, Shelley S / Bandera, Elisa V / Orlow, Irene / Olson, Sara H / Bjorge, Line / Salvesen, Helga B / van Altena, Anne M / Aben, Katja K H / Kiemeney, Lambertus A / Massuger, Leon F A G / Pejovic, Tanja / Bean, Yukie / Brooks-Wilson, Angela / Kelemen, Linda E / Cook, Linda S / Le, Nhu D / Górski, Bohdan / Gronwald, Jacek / Menkiszak, Janusz / Høgdall, Claus K / Lundvall, Lene / Nedergaard, Lotte / Engelholm, Svend Aage / Dicks, Ed / Tyrer, Jonathan / Campbell, Ian / McNeish, Iain / Paul, James / Siddiqui, Nadeem / Glasspool, Rosalind / Whittemore, Alice S / Rothstein, Joseph H / McGuire, Valerie / Sieh, Weiva / Cai, Hui / Shu, Xiao-Ou / Teten, Rachel T / Sutphen, Rebecca / McLaughlin, John R / Narod, Steven A / Phelan, Catherine M / Monteiro, Alvaro N / Fenstermacher, David / Lin, Hui-Yi / Permuth, Jennifer B / Sellers, Thomas A / Chen, Y Ann / Tsai, Ya-Yu / Chen, Zhihua / Gentry-Maharaj, Aleksandra / Gayther, Simon A / Ramus, Susan J / Menon, Usha / Wu, Anna H / Pearce, Celeste L / Van Den Berg, David / Pike, Malcolm C / Dansonka-Mieszkowska, Agnieszka / Plisiecka-Halasa, Joanna / Moes-Sosnowska, Joanna / Kupryjanczyk, Jolanta / Pharoah, Paul Dp / Song, Honglin / Winship, Ingrid / Chenevix-Trench, Georgia / Giles, Graham G / Tavtigian, Sean V / Easton, Doug F / Milne, Roger L

Journal of medical genetics

2016 Volume 53, Issue 12, Page(s) 800–811

Abstract: Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer ... ...

Abstract	Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p=7.1×10 Conclusions: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.
MeSH term(s)	Ataxia Telangiectasia Mutated Proteins/genetics ; Breast Neoplasms/epidemiology ; Breast Neoplasms/genetics ; Breast Neoplasms/metabolism ; Case-Control Studies ; Checkpoint Kinase 2/genetics ; Fanconi Anemia Complementation Group N Protein ; Female ; Genetic Association Studies ; Genetic Predisposition to Disease ; Humans ; Male ; Mutation ; Nuclear Proteins/genetics ; Ovarian Neoplasms/epidemiology ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/metabolism ; Prostatic Neoplasms/epidemiology ; Prostatic Neoplasms/genetics ; Prostatic Neoplasms/metabolism ; Risk ; Tumor Suppressor Proteins/genetics
Chemical Substances	Fanconi Anemia Complementation Group N Protein ; Nuclear Proteins ; PALB2 protein, human ; Tumor Suppressor Proteins ; Checkpoint Kinase 2 (EC 2.7.1.11) ; ATM protein, human (EC 2.7.11.1) ; Ataxia Telangiectasia Mutated Proteins (EC 2.7.11.1) ; CHEK2 protein, human (EC 2.7.11.1)
Language	English
Publishing date	2016-09-05
Publishing country	England
Document type	Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, Non-P.H.S. ; Research Support, Non-U.S. Gov't
ZDB-ID	220881-7
ISSN	1468-6244 ; 0022-2593
ISSN (online)	1468-6244
ISSN	0022-2593
DOI	10.1136/jmedgenet-2016-103839
Database	MEDical Literature Analysis and Retrieval System OnLINE

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