Kari Hemminki

..90 at covered and 2.53 at exposed sites. The data suggest that the higher melanoma density at exposed sites masks familial effects. Furthermore, sun exposure does not appear to reinforce the familial effect...

..5% (7/40) of the Arg139 homozygotes had p53 transversions. Our findings suggest that altered repair and detoxification due to genetic polymorphism may influence the occurrence of p53 mutations in bladder cancer...

..Only the combined distributions of TT/AA genotypes in MTHFR exon 4 (C/T) and exon 7 (A/C) showed slight increase in BCC compared to controls (P < 0.07, OR: 1.94; 95% CI: 0.96-3.89)...

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..This study was conducted to determine the effect of polymorphisms in the xenobiotic metabolic genes on the disease course and clinical outcomes of urinary bladder neoplasms...

..These data suggest that common host factors exist among individuals affected with anogenital and upper aerodigestive tract cancers...

..The possible contribution of 6A/6A homozygosity in the TGF-betaRI gene to breast cancer needs to be confirmed in an independent study...

..Birth in Sweden sets the Swedish pattern for cancer incidence, irrespective of the nationality of descent, while entering Sweden in the 20s is already too late to influence the environmentally imprinted program for the cancer destiny...

..Future studies could coordinate epidemiological studies of large populations with molecular biology resources...

..We observed separate and specific targeting of the CDKN2A and ARF genes, respectively, and that simultaneous inactivation of ARF and p53 occurs...

..The strong association of pancreatic and lung cancers is puzzling, and it remains unclear to what extent this represents familial sharing of smoking habits...

..Genetic causes possibly weigh more in early- than late-onset cases. This study shows the feasibility of carrying out nationwide family studies on subarachnoid hemorrhage...

..51 to 23.56). CONCLUSIONS: In addition to the familial association of these 2 cancer sites, the high risk of a second primary cancer of the bladder in patients with papillary renal cell carcinoma may reflect a common genetic alteration...

..33, 95% CI 1.0-1.8) in cases (C-allele 0.29) compared to controls (C-allele 0.24). Combined heterozygote and variant homozygote genotype frequency was also higher in cases than controls (chi(2) 4.79, p = 0.03; OR 1.50, 95%CI 1.04-2.16)...

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..61, CI 0.82-26.04). No significant associations were found for the NAT2 gene. Our results suggest that impaired glutathione conjugation may affect the mutation spectrum in critical target genes...

..16 to 0.87, for overall mortality). These population-level findings suggest heritability of prognosis for bladder and renal cell cancers. Genetic factors likely contribute to the mechanism underlying this observation...

..The data suggest that patients with basal cell carcinoma have a reduced capacity to repair UV-induced DNA lesions...

..Our results are consistent with the notion that the XPD (K751Q) polymorphism either individually or in combination with the XPC (K939Q) polymorphism modulates the risk of death in patients with urinary bladder neoplasms...

..We did not detect any alleles that correspond to hERbeta548 in these samples or in additional samples of heterogeneous origin. It is concluded that hERbeta548 is not a common variant in Africans, Caucasians, or Asians...

..Among 182 female cases, significantly elevated SIRs were observed in glass, ceramic, and tile workers. The study identified some known risk occupations and suggested some new ones...

..The effect of the novel intronic insertion polymorphism, which is located 16 nt downstream of the 3'-end of exon 10 of the XPD gene and involves a mononucleotide C repeat sequence, on expression remains to be determined...

..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...

..Further, the results indicate, a role for the 3' UTR polymorphisms in the CDKN2A gene in tumor invasiveness...

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..We also found that the amount of TT = C and TT = T at 0 hr in nevi was significantly lower than that in surrounding skin (Wilcoxon rank sum test, p < 0.05)...

..This study was undertaken to estimate associations of rheumatoid arthritis (RA) with any of 33 autoimmune diseases and related conditions among parents and offspring, singleton siblings, twins, and spouses...

..The risks for women with a family history were the highest, but these women accounted for the smallest proportion of the cases, thus resulting in the lowest PAFs...

..The T=T level in nevi was found to be 1- to 4.5-fold lower than that in surrounding skin and the difference was statistically significant (Student's t-test, P < 0.05)...

..The effects were so large that a failure to consider marital status in epidemiological studies may be a source to bias. Understanding these lifestyle changes may provide new insight in cancer prevention...

..97%. Risks for second lung cancers were increased in men and women after smoking and life style related sites, and after skin cancer, non-Hodgkin's lymphoma and Hodgkin's disease...

..As mammography has become widely used, it is important to quantify the risks for contralateral breast cancer in a population with a national access to mammographic screening service...

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..Histopathology and age of onset appear to be important attributes of familial ovarian cancer, suggesting that further gene identification efforts should target a specific histopathology in early-onset patients...

..The present study aimed at quantifying risks for second malignancies in patients with bone cancers, and risks for second bone cancers after other primary tumors...

..Other associations, such as childhood osteosarcoma with parental liver cancer, Ewing's sarcoma with kidney cancer and giant cell sarcoma with maternal breast cancer, were novel findings and may be related to other familial diseases...

..We sought to examine the associations between occupation and upper aerodigestive tract cancers at various anatomic sites...

..Studies about the effect of family history on survival have given conflicting results, which we try to clarify in this study. As an additional question, we examined whether family members share survival experience...

..However, its possible influence on pancreatic cancer survival has rarely been studied, probably because of the rareness of cases in the same family...

..95 (95% CI 0.79-1.15). Our study showed that twin births significantly reduced the subsequent risk of breast cancer. However, the associations of twin births with endometrial and ovarian cancers were not substantial...

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..Familial risks for esophageal cancer are not well known, especially for specific histologic types...

..The objective of this study was to examine the associations between socioeconomic/occupational factors and histologic subtypes of leukemia...

..The objective of this study was to examine the associations between socioeconomic/occupational factors and pancreatic cancer...

..43) for men and women, respectively. The present study suggests that the development from the first primary lung cancer to the second primary lung cancer may be more strongly affected by genetic factor than the first primary lung cancer...

..Melanoma associated with breast, nervous system, and skin cancers, and in situ melanoma possibly also with connective tissue and thyroid tumors and multiple myeloma...

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..To study time trends and familial clustering of invasive and in situ squamous cell skin cancers (SCC), with particular reference to sun-exposed and covered sites of the body...

..The overall population-attributable fraction for selected sites was 16.7% for men and 10.9% for women and it was highest, over 50%, for lung cancer in both genders...

..The data show that the familial PAF of prostate cancer was 20.55%, and breast cancer 10.61%, but for most other sites, it was between 1 and 3%...

..Our results suggest that the CDKN2A (p16(INK4a) and p14(ARF) ) and p53 genes involved in the two cell cycle pathways are major and independent targets of inactivation in OSCC...

..43%. Risk for subsequent cancers in men and women after upper aerodigestive tract cancer were increased in smoking, alcohol and other life-style related sites and in skin cancer and non-Hodgkin's lymphoma...

..Although smoking may explain some of these results, exposure to gasoline, diesel, their exposure products, some metal and chemicals in shoe and leather works, and dry-cleaning products may be associated with kidney cancer...

..The data show that the familial PAF of breast cancer among a 0-66-year-old population of daughters was 7% and independent of the morphologic type. If contribution from the paternal side was allowed for, the PAF would be 11%...

..Cement and mineral dusts appear as major occupational risk factors...

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..CONCLUSIONS: Our observation of relatively frequent minor LOH at 9p22.1, 9q22.3 and 9q32-33.1 identifies regions within which putative tumour suppressor genes, including the PTCH and the DBCCR1 genes, may reside...

..94) when a sibling had RCC. Age-specific analysis of familial RCC among siblings revealed maxima at ages 40 to 49 and 60 to 68 years. CONCLUSION: The findings in the present study offer evidence on recessive effects in early onset RCC...

..Population-based data on subsequent neoplasms after women are diagnosed with endometrial and ovarian carcinomas are limited, particularly regarding specific histologic tumor types...

..Reliable data on familial risks are important for clinical counseling and cancer genetics. However, population-based studies on familial soft tissue tumors are limited, which we will examine...

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..Women from Yugoslavia and Turkey had an excess of thyroid tumours. All immigrant groups showed breast, endometrial and ovarian cancers at or below the Swedish level but the differences were no more than 2-fold...

..68, 95% CI: 0.61-0.75. Further research is warranted to elucidate possible behaviors or characteristics associated with education that could explain the differences in incidence and survival, such as compliance with cancer screening...

..Familial risks in kidney cancer and association with second primary malignancies were studied using the nationwide Swedish Family Cancer Database...

..This study is the first to investigate the concordant (same subtype) and disconcordant (different subtype) association between ischemic and hemorrhagic stroke...

..We conducted the present study to determine whether breast cancer morphology is genetically determined...

..Even though most of the associations are biologically plausible, and vegetables and fruit were an a priori hypothesis, fortuitous results cannot be ruled out in this relatively small study...

..Yet, it is likely that many brain astrocytoma, meningioma, and mixed families represent yet unknown heritable conditions...

..38+/-7.24 vs 65.77+/-19.79 years; t-test, P=0.02). Our data suggest that the occurrence of BRAF/N-ras mutations compensate the requirement for the allelic loss at chromosome 9, which is one of the key events in melanoma...

..We discuss here the approaches in study design and reporting that will reduce the spread of false positive data and optimize scientific progress in the genotyping field...

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..These results do not support CDH1 as a prominent low-penetrance cancer susceptibility gene, but indicate that CDH1 mutations contribute to the progression of both lobular and ductal tumors...

..Giant cell sarcoma was increased by parental breast cancer (SIR 2.9), and early-onset chondrosarcoma by parental kidney cancers (SIR 6.8). Bone cancers conveyed a high risk of second bone and connective tissue cancer...

..e., higher familial risk in the gender of low background risk. The high familial ratio, 2.85 (95% CI: 1.35-6.03), was due to thyroid adenocarcinoma, encompassing both papillary and follicular types...

..Bladder cancer was not increased among hairdressers in the recent decades and is therefore not likely to be associated with modern hair dyes...

..The SIRs of many academic/college-educated groups were two to six times higher than those of farmers, suggesting indirect exposure to asbestos in these groups...

..No difference in the allele distribution of the six studied polymorphisms was found between the breast cancer and control groups...

..Our data show that urinary T = T could be a suitable noninvasive biomarker for UV exposure; a finding which could also be applicable to studies in children...

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..37-0.90, P = 0.01 and OR = 0.41, 95% CI = 0.23-0.74, P = 0.003), supporting its role in human cancer. To our knowledge, the present study is the first to determine the impact of a CNV in a tumor suppressor gene on cancer risk...

..10 (95% CI = 1.04 to 1.17, P = .001). Among the combined subset of 2795 familial breast cancer patients, the respective ORs were 1.27 (95% CI = 1.12 to 1.45, P = .0003) and 1.16 (95% CI = 1.06 to 1.27, P = .001)...

..Quantitative data on solid tumors are limited. We focus on survivors of non-Hodgkin's lymphoma (NHL) because the disease is diagnosed at a wide range of ages and treated uniformly primarily with chemotherapy...

..This study was initiated to evaluate the risks of NHL associated with a personal or family history of a wide range of autoimmune diseases...

..045). Present results show that exposed individuals in the tire production, who smoke, exhibit higher chromosomal aberrations frequencies, and the extent of chromosomal damage may additionally be modified by relevant polymorphisms...

..These results suggest that NBS1 does not play a major role in predisposition to melanoma in the Southern German population but that alterations of this gene might contribute to the risk of this cancer...

..However, the mechanism through which the variants influence the risk likely involves complex interactions with other genetic and host risk factors...

..37; 95% CI, 0.98-5.76). The score statistic yielded an empirical P of 0.03 of the haplotype-specific test for 626C-683C based on 20,000 simulations, suggesting that DR4 626C-683C may affect colorectal cancer predisposition...

..The aim of this study was to assess whether patients with skin cancer have an altered risk of developing other cancers...

..We point out what is known about the effects of the variants and show how the interaction of genetic variants affects breast cancer risk...

..The high SIR found for liver cancer may be explained by misclassification bias. Common etiological factors may be involved in ocular and prostate cancers...

..84, 95% confidence interval (CI) = 0.65-1.08, P = 0.18 and OR = 0.89, 95% CI = 0.72-1.12, P = 0.30]. However, haplotype analysis revealed a 3.5-fold risk for carriers of the 626C-683C haplotype (OR = 3.52, 95% CI = 1.45-8.52, P = 0.003)...

..This is the first study to consider the changes of incidence over time as a source of bias when evaluating anticipation in lymphoproliferative cancers...

..The present data suggest that 1.7% of lung cancers up to age 68 years are heritable and probably due to a high-penetrant recessive gene or genes that predispose to tobacco carcinogens...

..097). The results from this study suggest the importance of evaluating markers of individual susceptibility, since they may modulate genotoxic effects induced by occupational exposure to xenobiotics...

..The data are probably explained by the healthy brother seeking medical advice upon diagnosis in another brother. This effect is likely to bias familial risk estimates...

..However, the risks were independent of the age difference. Data among spouses and siblings consistently point to the importance of heritable factors in familial CRC...

..However, the spectrum of malignancies associated with common genetic etiology and the effects of gender and age on familial risk have not been established...

..9, P = 0.010) and XPC polymorphisms (F = 4.2, P = 0.046, MANOVA). Our results from this study suggest that markers of genotoxicity are associated with polymorphisms in genes encoding DNA repair enzymes...