Use of Monozygotic Twins in Search for Breast Cancer Susceptibility Loci

Försti, Asta; Jin, Qianren; Sundqvist, Lena; Söderberg, Magnus; Hemminki, Kari

doi:10.1375/twin.4.4.251

Cited by 7 publications

(4 citation statements)

References 38 publications

(49 reference statements)

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“…After digestion with MnlI, PCR products were electrophoresed and detected using an automated ALF Express sequencer (Amersham Pharmacia). The results were analyzed using software package Fragment Manager as described earlier (17).…”

Section: Methodsmentioning

confidence: 99%

Vascular Endothelial Growth Factor Polymorphisms in Relation to Breast Cancer Development and Prognosis

Jin

Hemminki

Enquist

et al. 2005

Clinical Cancer Research

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209

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Purpose: Angiogenesis is a necessary step in tumor growth and metastasis. Vascular endothelial growth factor (VEGF) is a major mediator of breast cancer angiogenesis. Therefore, we investigated the association of polymorphisms in the VEGF gene with breast cancer risk and prognostic characteristics of the tumors in a large case-control study. Experimental Design: We examined three polymorphisms in the VEGF gene (−2578C/A, −1154G/A, and +936C/T) in 571 familial breast cancer cases from Poland and Germany and −2578C/A, −634G/C, and +936C/T polymorphisms in 974 unselected breast cancer cases from Sweden together with ethnically and geographically selected controls. Results: None of the polymorphisms or any haplotype was significantly associated with either familial or unselected breast cancers. Our study suggests that the +936C/T polymorphism is unlikely to be associated with breast cancer. We also analyzed the unselected cases for genotypes or haplotypes that associated with tumor characteristics. The −634CC genotype and the −2578/−634 CC haplotype were significantly associated with high tumor aggressiveness (large tumor size and high histologic grade, P < 0.01) and the −2578AA genotype and the −2578/−634 AG haplotype with low histologic grade tumors (P = 0.04). The genotypes and haplotypes were not related with other tumor characteristics such as regional or distant metastasis, stage at diagnosis, or estrogen or progesterone receptor status. Conclusions: Although none of the polymorphisms studied in the VEGF gene was found to influence susceptibility to breast cancer significantly, some of the VEGF genotypes and haplotypes may influence tumor growth through an altered expression of VEGF and tumor angiogenesis.

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Section: Methodsmentioning

confidence: 99%

Vascular Endothelial Growth Factor Polymorphisms in Relation to Breast Cancer Development and Prognosis

Jin

Hemminki

Enquist

et al. 2005

Clinical Cancer Research

Self Cite

209

197

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“…www.nature.com/reviews/genetics R E V I E W S differentially activated by epigenetic factors 38 . Conversely, the detection of somatic mutation of the same gene in tumours from MZ twins, both of whom have the tumour, might be a powerful way to detect predisposition genes 39,40 .…”

Section: Polygenesmentioning

confidence: 99%

Classical twin studies and beyond

2002

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“…PCR products were electrophoresed and detected using an automated ALF Express sequencer (Amersham, Arlington Heights, IL), and the results were analyzed using the software package Fragment Manager (Amersham, Arlington Heights, IL) as described earlier. 16 About 10% of the PCR-RFLP and PCR-ALF assays were randomly repeated, and results were checked for concordance.…”

Section: Alf Express Fragment Analysismentioning

confidence: 99%

Polymorphisms and haplotype structures in genes for transforming growth factor β1 and its receptors in familial and unselected breast cancers

Jin

Hemminki

Grzybowska

et al. 2004

Intl Journal of Cancer

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Alterations in TGF-␤ signaling appear to be associated with an altered risk of developing cancer, including breast cancer. We carried out a case-control study on 8 polymorphisms, including 5 in the TGF-␤1 gene (G-800A, C-509T, Leu 10 3 Pro, Arg 25 3 Pro and Thr 263 3 Ile), a polyalanine polymorphism (9A36A) in the TGF-␤RI gene and 2 (G-875A and A-364G) in the TGF-␤RII gene, using samples from 2 different populations, Polish familial and Finnish unselected breast cancer cases, together with ethnically and geographically matched controls. Additionally, familial breast cancer cases with respective controls from Sweden and Germany were studied in the Leu 10 3 Pro polymorphism, making the total number of familial cases 659. Allele, genotype and haplotype analysis on the TGF-␤1 gene as well as an analysis of the combinations of genotypes of the TGF-␤1 and its receptor genes in each individual were performed. Population differences in the allele and genotype distributions were found from 5 of the polymorphisms and 3 common haplotypes from the TGF-␤1 gene between the Finnish and other populations. However, no statistically significant difference between the breast cancer and healthy control groups was found for any of the 8 polymorphisms nor did the haplotype or genotype combination analysis reach statistical significance. Thus, none of the studied polymorphisms from the TGF-␤1 and its receptor genes was found to influence significantly susceptibility to breast cancer. The possible contribution of 6A/6A homozygosity in the TGF-␤RI gene to breast cancer needs to be confirmed in an independent study.

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Use of Monozygotic Twins in Search for Breast Cancer Susceptibility Loci

Cited by 7 publications

References 38 publications

Vascular Endothelial Growth Factor Polymorphisms in Relation to Breast Cancer Development and Prognosis

Vascular Endothelial Growth Factor Polymorphisms in Relation to Breast Cancer Development and Prognosis

Classical twin studies and beyond

Polymorphisms and haplotype structures in genes for transforming growth factor β1 and its receptors in familial and unselected breast cancers

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