1,721,055 research outputs found
Hereditary cancer: guidelines in clinical practice. Breast and ovarian cancer genetics
No full textA variable proportion of cancers have a genetic aetiology but genes rarely act alone in shaping cancer predisposition. Environment and other genes modify risks and much of this
interaction is poorly understood at present. Initial genetic risk
assessment is often based on knowledge of genetic epidemiology.
Different levels of increase in predicted risk may shape clinical decisions about molecular genetic testing, prevention or early detection, and knowledge about available options is important in dealing with cancer patients and their families
Fibroadenoma with atypical giant cells occurring in Li Fraumeni Syndrome
No full textThis report describes a patient with Li Fraumeni Syndrome who first presented with an unusual fibroadenoma containing atypical multinucleated giant cells. These cells are thought to be fibrohistiocytic in nature and are rarely seen in fibroepithelial lesions of the breast. Previously these cells were considered incidental in nature. The possibility of Li Fraumeni Syndrome needs to be considered when such features are encountered in future
Familial non-BRCA1/BRCA2-associated breast cancer
No full textMultidisciplinary breast-cancer teams commonly encounter women, both premenopausal and postmenopausal, presenting with breast cancer who also have a family history of this disease. Much of the published work on management of hereditary breast cancer focuses on women with known mutations in BRCA1 and BRCA2, in whom high-grade tumours, common second primaries, and a differential response to adjuvant chemotherapies could be relevant in finding the most effective management strategies. Extrapolation of some of these findings to all patients with familial breast cancer is tempting. However, for women in whom BRCA1 or BRCA2 mutations are unlikely or not found, what evidence is there to inform choices about the various management options? We review the published work on management issues for patients with familial breast cancer not due to a detectable mutation in BRCA1/BRCA2 and compare it with the issues for BRCA1 and BRCA2 carriers on whom more information is available
No association of the MDM2 SNP309 polymorphism with risk of breast or ovarian cancer
No full textA functional T to G germline polymorphism in the promoter region of MDM2 (SNP309) has been reported to profoundly accelerate tumor formation suggesting that it may also represent a powerful cancer predisposing allele. To investigate the role of SNP309 in cancer predisposition we undertook a case-control study of this polymorphism among 351 women diagnosed with breast cancer, 302 women diagnosed with ovarian and 258 female controls from a British population. The GG genotype was not associated with either breast cancer (OR 1.04, 95% CI 0.67-1.60) or ovarian cancer (OR 0.86, 95% CI 0.53-1.37). This study has found no evidence that the GG genotype of the MDM2 SNP309 polymorphism is associated with early onset or familial breast cancer or with ovarian cancer
Prospective study of outcome in sporadic versus hereditary breast cancer: pros and cons of running a cohort study
Full text linkThe application of microplate array diagonal gel electrophoresis (melt-MADGE) to high throughput inexpensive BRCA1 mutation analysis
No full textPolymorphic variation in CYP19 and the risk of breast cancer
No full textThe production of estrogen from androgen via the estrogen biosynthesis pathway is catalyzed by aromatase P450 (cyp19). We have assessed the frequency of allelic variants of the CYP19 intron 4 [TTTA]n repeat in 327 breast cancer cases and 253 controls from southern England. Previous studies have suggested that the [TTTA]10 repeat and [TTTA]12 repeat variants represent low penetrance breast cancer susceptibility alleles. Compared with controls our breast cancer cases had a statistically significant positive association with the [TTTA]10 allele (1.5 versus 0.2%, P = 0.028) and the [TTTA]8 allele (13.5 versus 8.7%, P = 0.012). The frequency of the [TTTA]12 allele was not significantly elevated in our study group compared with controls (2.3 versus 2.2%, P = 1.00). The CYP19 intron 4 [TTTA]n repeat is unlikely to have a functional effect on aromatase activity and it is more likely that the [TTTA]8 and [TTTA]10 variants are in linkage disequilibrium with other functional CYP19 variants
Clinicopathological characteristics of young onset breast cancer: initial results from a prospective cohort study
No full textBackground and Purpose: Low-dose tamoxifen and fenretinide, a vitamin A derivative, have both shown to modulate biomarkers of breast cancerogenesis in premenopausal women. In the present study we are investigating whether the combination of the two drugs have a synergistic effect on putative surrogate biomarkers of breast cancerogenesis in premenopausal women at increased risk for breast cancer. Additionally, we are interested in studying the safety and the endometrial effects of the drug combination. Patients and Methods: Between October 1998 and April 2002, 235 women were randomly assigned in a double-blind 4-arm trial to tamoxifen 5 mg/day, fenretinide 200 mg/day, both agents, or placebo for 2 years. All subjects are being followed for three additional years. The primary endpoints were the changes in circulating insulin-like growth factor-I (IGF-I) and computerized mammographic percent density. Results: Subjects were included because of a previously excised DCIS (57%), LCIS (13%), micro-invasive breast cancer (7%), or a 5-year Gail risk ≥1.3% (23%). There was a 15% reduction on IGF-I levels on tamoxifen, as early as after 6 months of treatment, while the reduction on fenretinide was about 2%. Recruitment was stopped earlier, based on the lack of a synergistic interaction of the two drugs on plasma IGF-I levels. After a median follow-up of 40 months, 35 subjects dropped the study for refusal (n=19) or adverse events (n=16). So far, 24 primary or recurrent breast cancers have been observed, with no difference among arms. Of the three serious adverse events, one stage-I endometrial cancer occurred in the fenretinide arm, one optic nerve ischemia and one deep venous thrombosis occurred in the tamoxifen arm. There was no increased endometrial thickness and no difference in endometrial polyps among the four arms. Conclusions: The combination of low-dose tamoxifen and fenretinide is safe and well tolerated, but is not synergistic in lowering circulating IGF-I levels. Low-dose tamoxifen does significantly reduces IGF-I levels and does not affect endometrial proliferation. Mammographic percent density is currently under evaluation and updated results will be presented at the conference
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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