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Sökning: WFRF:(van der Luijt Rob B)

  • Resultat 21-22 av 22
  • Föregående 12[3]
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21.
  • Mulligan, Anna Marie, et al. (författare)
  • Common breast cancer susceptibility alleles are associated with tumor subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
  • 2011
  • Ingår i: Breast cancer research : BCR. - 1465-542X. ; 13:6
  • Tidskriftsartikel (refereegranskat)abstract
    • ABSTRACT: INTRODUCTION: Previous studies have demonstrated that common breast cancer susceptibility alleles are differentially associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers. It is currently unknown how these alleles are associated with different breast cancer subtypes in BRCA1 and BRCA2 mutation carriers defined by estrogen (ER) or progesterone receptor (PR) status of the tumor. METHODS: We used genotype data on up to 11,421 BRCA1 and 7,080 BRCA2 carriers, of whom 4,310 had been affected with breast cancer and had information on either ER or PR status of the tumor, to assess the associations of twelve loci with breast cancer tumor characteristics. Associations were evaluated using a retrospective cohort approach. RESULTS: The results suggested stronger associations with ER-positive breast cancer than ER-negative for eleven loci in both BRCA1 and BRCA2 carriers. Among BRCA1 carriers, SNP rs2981582 (FGFR2) exhibited the biggest difference based on ER status (per-allele HR for ER-positive=1.35, 95%CI:1.17-1.56 vs HR=0.91, 95%CI:0.85-0.98 for ER-negative, P-heterogeneity=6.5e-6). In contrast, SNP rs2046210 at 6q25.1 near ESR1 was primarily associated with ER-negative breast cancer risk for both BRCA1 and BRCA2 carriers. In BRCA2 carriers, SNPs in FGFR2, TOX3, LSP1, SLC4A7/NEK10, 5p12, 2q35, and1p11.2 were significantly associated with ER-positive but not ER-negative disease. Similar results were observed when differentiating breast cancer cases by PR status. CONCLUSIONS: The associations of the twelve SNPs with risk for BRCA1 and BRCA2 carriers differ by ER-positive or ER-negative breast cancer status. The apparent differences in SNP associations between BRCA1 and BRCA2 carriers, and non-carriers, may be explicable by differences in the prevalence of tumor subtypes. As more risk modifying variants are identified, incorporating these associations into breast cancer subtype-specific risk models may improve clinical management for mutation carriers.
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22.
  • Georgitsi, Marianthi, et al. (författare)
  • Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.
  • 2007
  • Ingår i: Journal of Clinical Endocrinology and Metabolism. - 0021-972X .- 1945-7197. ; 92:8, s. 3321-5
  • Tidskriftsartikel (refereegranskat)abstract
    • CONTEXT: Germline mutations in the MEN1 gene predispose to multiple endocrine neoplasia type 1 (MEN1) syndrome, but in up to 20-25% of clinical MEN1 cases, no MEN1 mutations can be found. Recently, a germline mutation in the CDKN1B gene, encoding p27(Kip1), was reported in one suspected MEN1 family with two acromegalic patients.OBJECTIVE: Our objective was to evaluate the role of CDKN1B/p27(Kip1) in human tumor predisposition in patients clinically suspected of MEN1 but testing negative for MEN1 germline mutation as well as in familial and sporadic acromegaly/pituitary adenoma patients.DESIGN: Genomic DNA was analyzed for germline mutations in the CDKN1B/p27(Kip1) gene by PCR amplification and direct sequencing.SETTING: The study was conducted at nonprofit academic research and medical centers.PATIENTS: Thirty-six Dutch and one German suspected MEN1 patient, who previously tested negative for germline MEN1 gene mutations, were analyzed. In addition, 19 familial and 50 sporadic acromegaly/pituitary adenoma patients from Europe and the United States were included in the study.MAIN OUTCOME MEASURES: We analyzed germline CDKN1B/p27(Kip1) mutations in individuals with pituitary adenoma and MEN1-like features.RESULTS: A heterozygous 19-bp duplication (c.59_77dup19) leading to a truncated protein product was identified in one Dutch patient with suspected MEN1 phenotype, pituitary adenoma, carcinoid tumor, and hyperparathyroidism (one of 36, 2.8%). No mutations were detected in either familial or sporadic acromegaly/pituitary adenoma patients.CONCLUSIONS: Our results support the previous finding that germline CDKN1B/p27(Kip1) mutations predispose to a human MEN1-like condition. However, such mutations appear uncommon in suspected MEN1 cases and rare or nonexistent in familial or sporadic acromegaly/pituitary adenoma patients.
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  • Resultat 21-22 av 22
  • Föregående 12[3]
Typ av publikation
tidskriftsartikel (22)
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refereegranskat (22)
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van der Luijt, Rob B ... (31)
Spurdle, Amanda B. (25)
Domchek, Susan M. (25)
Easton, Douglas F. (24)
Benitez, Javier (24)
Andrulis, Irene L. (24)
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Antoniou, Antonis C. (24)
Sinilnikova, Olga M. (23)
Nevanlinna, H (22)
Chenevix-Trench, G (22)
Greene, Mark H. (22)
Neuhausen, Susan L (21)
Hamann, U (21)
Evans, D. Gareth (21)
Mai, Phuong L. (21)
Nevanlinna, Heli (20)
Benitez, J. (20)
Simard, J (20)
Schmutzler, Rita K. (20)
Nathanson, Katherine ... (20)
John, Esther M (19)
Meindl, A (19)
Hamann, Ute (19)
Hansen, Thomas V. O. (19)
Radice, P (18)
Easton, DF (18)
Chenevix-Trench, Geo ... (18)
Meindl, Alfons (18)
McGuffog, Lesley (18)
Radice, Paolo (18)
Singer, Christian F. (18)
Peterlongo, P (17)
Couch, FJ (17)
Antoniou, AC (17)
Engel, Christoph (17)
Arnold, Norbert (17)
Peterlongo, Paolo (17)
Caligo, Maria A. (17)
Neuhausen, SL (16)
Andrulis, IL (16)
Glendon, G (16)
Schmutzler, RK (16)
Thomassen, M (16)
Peock, S (16)
Frost, Debra (16)
Rookus, Matti A. (16)
Wappenschmidt, Barba ... (16)
Manoukian, Siranoush (16)
Caldes, Trinidad (16)
Osorio, Ana (16)
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Lunds universitet (11)
Umeå universitet (6)
Linköpings universitet (6)
Karolinska Institutet (6)
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Forskningsämne (UKÄ/SCB)
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