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排序方式: 共有140条查询结果,搜索用时 6 毫秒
101.
102.
Deborah Thompson Sheila Seal Mieke Schutte Lesley McGuffog Rita Barfoot Anthony Renwick Rosalind Eeles Nayanta Sodha Richard Houlston Susan Shanley Jan Klijn Marijke Wasielewski Jenny Chang-Claude P Andrew Futreal Barbara L Weber Katherine L Nathanson Michael Stratton Hanne Meijers-Heijboer Nazneen Rahman Douglas F Easton 《Cancer epidemiology, biomarkers & prevention》2006,15(12):2542-2545
The CHEK2 1100delC protein-truncating mutation has a carrier frequency of approximately 0.7% in Northern and Western European populations and confers an approximately 2-fold increased risk of breast cancer. It has also been suggested to increase risks of colorectal and prostate cancer, but its involvement with these or other types of cancer has not been confirmed. The incidence of cancer other than breast cancer in 11,116 individuals from 734 non-BRCA1/2 breast cancer families from the United Kingdom, Germany, Netherlands, and the United States was compared with that predicted by population rates. Relative risks (RR) to carriers and noncarriers were estimated by maximum likelihood, via the expectation-maximization algorithm to allow for unknown genotypes. Sixty-seven families contained at least one tested CHEK2 1100delC mutation carrier. There was evidence of underreporting of cancers in male relatives (422 cancers observed, 860 expected) but not in females (322 observed, 335 expected); hence, we focused on cancer risks in female carriers. The risk of cancers other than breast cancer in female carriers was not significantly elevated, although a modest increase in risk could not be excluded (RR, 1.18; 95% confidence interval, 0.64-2.17). The carrier risk was not significantly raised for any individual cancer site, including colorectal cancer (RR, 1.60; 95% confidence interval, 0.54-4.71). However, between ages 20 to 50 years, the risks of colorectal and lung cancer were both higher in female carriers than noncarriers (P = 0.041 and 0.0001, respectively). There was no evidence of a higher prostate cancer risk in carriers than noncarriers (P = 0.26), although underreporting of male cancers limited our power to detect such a difference. Our results suggest that the risk of cancer associated with CHEK2 1100delC mutations is restricted to breast cancer, although we cannot rule out a small increase in overall cancer risk. 相似文献
103.
104.
Seal S Barfoot R Jayatilake H Smith P Renwick A Bascombe L McGuffog L Evans DG Eccles D Easton DF Stratton MR Rahman N;Breast Cancer Susceptibility Collaboration 《Cancer research》2003,63(24):8596-8599
Fanconi Anemia (FA) is an autosomal recessive syndrome characterized by congenital abnormalities, progressive bone marrow failure, and susceptibility to cancer. FA has eight known complementation groups and is caused by mutations in at least seven genes. Biallelic BRCA2 mutations were shown recently to cause FA-D1. Monoallelic (heterozygous) BRCA2 mutations confer a high risk of breast cancer and are a major cause of familial breast cancer. To investigate whether heterozygous variants in other FA genes are high penetrance breast cancer susceptibility alleles, we screened germ-line DNA from 88 BRCA1/2-negative families, each with at least three cases of breast cancer, for mutations in FANCA, FANCC, FANCD2, FANCE, FANCF, and FANCG. Sixty-nine sequence variants were identified of which 25 were exonic. None of the exonic variants resulted in translational frameshifts or nonsense codons and 14 were polymorphisms documented previously. Of the remaining 11 exonic variants, 2 resulted in synonymous changes, and 7 were present in controls. Only 2 conservative missense variants, 1 in FANCA and 1 in FANCE, were each found in a single family and were not present in 300 controls. The results indicate that FA gene mutations, other than in BRCA2, are unlikely to be a frequent cause of highly penetrant breast cancer predisposition. 相似文献
105.
van Haelst MM Hoogeboom JJ Baujat G Brüggenwirth HT Van de Laar I Coleman K Rahman N Niermeijer MF Drop SL Scambler PJ 《American journal of medical genetics. Part A》2005,139(1):40-44
A three-generation family with autosomal dominant segregation of a novel NSD1 mutation (6605G --> A, resulting in Cys2202Tyr) is reported. Haploinsufficiency of NSD1 has been identified as the major cause of Sotos syndrome. The overgrowth condition (MIM 117550) is characterized by facial anomalies, macrocephaly, advanced bone age, and learning disabilities. Manifestations in the present family include dramatically increased height, weight, and head circumference together with a long face, large mandible, and large ears, but mental deficiency was absent. 相似文献
106.
Darren Hargrave Nina Persinguhe Rita Barfoot Isobel Moore Martin Radford Michael R. Stratton Nazneen Rahman Kathy Pritchard‐Jones 《American journal of medical genetics. Part A》2001,104(3):246-249
A 14‐month‐old boy presenting with Wilms tumor (WT) was found to have a small de novo deletion of the long arm of chromosome 12 (12q11‐12q13.11). Microsatellite analysis of this region from constitutional DNA showed that the paternal allele was absent between the markers D12S331 and D12S1713 (inclusive). In the WT there was no evidence of loss of the maternal chromosome. Constitutional chromosome abnormalities can often point to the presence of genes that are important in disease, and the deletion of chromosome 12 in this patient may indicate a gene involved in WT. To determine whether a WT predisposition locus exists at 12q we examined the region in two familial Wilms tumor (FWT) pedigrees unlinked to the known FWT genes on chromosomes 17q (FWT1), 19q (FWT2), and 11p (WT1). In both families WT did not segregate with chromosome 12q markers located within the deletion boundaries. © 2001 Wiley‐Liss, Inc. 相似文献
107.
Maris JM Mosse YP Bradfield JP Hou C Monni S Scott RH Asgharzadeh S Attiyeh EF Diskin SJ Laudenslager M Winter C Cole KA Glessner JT Kim C Frackelton EC Casalunovo T Eckert AW Capasso M Rappaport EF McConville C London WB Seeger RC Rahman N Devoto M Grant SF Li H Hakonarson H 《The New England journal of medicine》2008,358(24):2585-2593
108.
Dr. A. S. M. Iqbal Md. Shahidullah Md. Nurul Islam Sohela Akhter Shahanara Banu 《Indian journal of pediatrics》2001,68(6):523-526
Estimation of serum zinc and copper in the maternal blood and cord blood of neonates was carried out to correlate the trace
metals in the neonates and their mothers in relation to gestational age and birth weight. Sixty-five healthy neonates, both
term and preterm and their mothers were selected. This cross sectional study was done at Azimpur Maternity Centre, Dhaka Medical
College Hospital and Chemistry Division, Atomic Energy Centre, Dhaka, Bangladesh from July 1997 to June 1998. The estimation
of trace metals was carried out by Atomic Absorption Spectrophotometry (AAS). The mean serum zinc levels in the maternal blood
and cord blood were 0.47 ± 0.24 μg/ml and 0.85 ± 0.33 μg/ml respectively and the mean copper levels in the maternal blood
and cord blood were 1.37 ± 0.62 μg/ml and 0.31 ± 0.32 μg/ml respectively. Cord blood zinc level was significantly higher and
cord blood copper level was significantly lower than the corresponding maternal blood levels. There was no significant correlation
between gestational age and serum zinc levels in the cord or maternal blood. But significant inverse correlation was found
between gestational age and serum levels of copper in the maternal and cord blood. 相似文献
109.
110.