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Women with a BRCA1 or BRCA2 mutation are at high risk for breast cancer and must make important decisions about breast cancer prevention and screening. In the current study, we report a multisite, randomized, controlled trial evaluating the effectiveness of a decision aid for breast cancer prevention in women with a BRCA mutation with no previous diagnosis of cancer. Within 1 month of receiving a positive BRCA result, women were randomized to receive either usual care (control group) or decision aid (intervention group). Participants were followed at 3, 6, and 12 months; were asked about preventive measures; and completed standardized questionnaires assessing decision making and psychosocial functioning. One hundred fifty women were randomized. Mean cancer-related distress scores were significantly lower in the intervention group compared with the control group at 6 months (P = 0.01) and at 12 months postrandomization (P = 0.05). Decisional conflict scores declined over time for both groups and at no time were there statistical differences between the two groups. The decision aid for breast cancer prevention in women with a BRCA1 or BRCA2 mutation is effective in significantly decreasing cancer-related distress within the year following receipt of positive genetic test results. Genet Med 19 3, 330–336.

The success of fixed prosthodontic treatment depends upon precision and accuracy in every step involved in the procedure. A very critical aspect of this is making accurate impressions in terms of dimensional accuracy, tear strength etc. The impression materials at the margins of the preparation require substantial thickness in order to resist distortion. This goal is in terms achieved by adequate gingival retraction. This paper focuses on the evaluation of three different gingival retraction methods namely retraction cord, Magic Foam Cord and Expasyl using width and depth of gingival sulcus as criteria.

Although the high predictability and long-term success rate of dental implants is well documented, complications and failures do occur. Some complications may be relatively minor and easy to correct, while others will be major and result in the loss of the implant or prosthesis. The aim of this paper is to discuss complications and failures of dental implants.

Facial appearance influences the social acceptance and psychological well-being of an individual. Prosthodontic treatment restores the lost support. Regardless of judgment and technical ability the dentist can place the artificial teeth more correctly if some natural stable landmarks are available to guide. In this study, lateral cephalograms were used to determine the relation of anterior teeth to incisive papilla, mucolabial reflections and A-Pogonion line in dentulous subjects and in complete denture wearers. The results of this study indicate that within dentulous subjects there is no significant difference in the horizontal or vertical relationship of anterior teeth with various landmarks such as incisive papilla, mucolabial reflections and A-Pog line, irrespective of age group. In complete denture wearer, the dentures which were constructed to esthetic and phonetic sense of dentist, there is not much variation in labiolingual position of anterior teeth, as compared to the natural teeth; however, there was slight increase in the vertical measurement from the denture borders to the tips of maxillary and mandibular incisors.

We describe a boy who has an anadysplasia-like spondylometaphyseal dysplasia. By whole exome sequencing he was shown to have compound heterozygous mutations of LBR that codes for the lamin B receptor. He shares many similarities with a case previously described, but in whom the early natural history could not be established [Borovik et al., 2013]. Thus, in addition to Greenberg dysplasia (a perinatal lethal disorder), homozygosity or compound heterozygosity of mutations in LBR can result in a mild, spontaneously regressing bone dysplasia.

Women with a mutation in BRCA1 or BRCA2 face a lifetime risk of breast cancer of approximately 80 %. Tamoxifen treatment of the first cancer has been associated with a reduction in the risk of a subsequent contralateral cancer. We studied 1,504 women with a known BRCA1 or BRCA2 mutation, 411 women with bilateral breast cancer (cases) and 1,093 women with unilateral breast cancer (controls) in a matched case-control study. Control women were of similar age and had a similar age of diagnosis of first breast cancer as the cases. For each woman who used tamoxifen, the starting and stopping dates were abstracted and the duration of tamoxifen use was calculated. Three hundred and thirty-one women had used tamoxifen (22 %); of these 84 (25 %) had completed four or more years of tamoxifen, the remainder stopped prematurely or were current users. For women with up to 1 year of tamoxifen use, the odds ratio for contralateral breast cancer was 0.37 (95 % CI 0.20-0.69; p = 0.001) compared to women with no tamoxifen use. Among women with 1-4 years of tamoxifen use the odds ratio was 0.53 (95 % CI 0.32-0.87; p = 0.01). Among women with four or more years of tamoxifen use the odds ratio was 0.83 (95 % CI 0.44-1.55; p = 0.55). Short-term use of tamoxifen for chemoprevention in BRCA1 and BRCA2 mutation carriers may be as effective as a conventional 5-year course of treatment.

No abstract available.

Objective:To determine the effect of different retraction cord medicaments on surface detail reproduction of polyvinyl siloxane impression materials and compare this effect on any two brands of commercially available polyvinyl siloxane impression materials. Material and methods: Four stainless steel dies were made according to ADA specification no.19. Three dies were treated with aluminium chloride (5%), ferric sulphate (13.3%) and epinephrine (0.1%) while the fourth one was left untreated to serve as control. Two impression materials (Dentsply and 3M ESPE) were used. Results: All the three medicaments adversely affected the surface detail reproduction of both the brands of the polyvinyl siloxane impression materials. These effects were statistically significant as compared to untreated control. The impressions of 3M ESPE brand have shown better surface detail reproduction as compared to Dentsply impression material. Conclusion: Surface detail reproduction of the polyvinyl siloxane impression materials is adversely affected by the retraction cord medicaments. The presence of moisture or any traces of the medicaments should be removed from the tooth surface to provide a dry field for the correct reproduction of the surface detail of these materials. Key words:Polyvinyl Siloxane, retraction cord medicaments, surface detail reproduction.

There are two mutations in BRCA1 and one in BRCA2, which are present in up to 2.5% of Jewish women. Population genetic testing for Jewish women has been proposed; however, it is unclear how this would impact the uptake of cancer prevention options and psychosocial functioning in women with a positive result. Two thousand and eighty unselected Jewish women were tested for the Jewish BRCA mutations, and 1.1% were positive. Cancer-related distress was measured before testing, and at 1 and 2 years post-testing. Information on uptake of cancer risk reduction options was collected at 2 years. Breast and ovarian cancer risks were estimated using BRCAPRO. Within 2 years of receiving a positive result, 11.1% of women had prophylactic mastectomy, and 89.5% had a prophylactic oophorectomy. The mean breast cancer risk was estimated to be 37.2% at time of testing, compared to 20.9% at 2 years post-testing. The mean ovarian cancer risk was estimated to be 24.5% at time of testing, compared to 7.5% at 2 years following testing. Distress decreased between 1 and 2 years for women with prophylactic mastectomy and oophorectomy (P = 0.02), and for women with prophylactic oophorectomy only (P = 0.04) but not for those with neither surgery. The majority of Jewish women with a BRCA mutation identified through a population screening elected prophylactic oophorectomy, but a few had a prophylactic mastectomy. Uptake of either surgery resulted in decreased distress. Provision of population BRCA testing resulted in reduced risks of breast and ovarian cancers in women with a mutation.

It is not known to what extent participation in a genetic testing program for BRCA1 and BRCA2, which does not include an extensive pre-test counselling session, influences cancer-related distress, cancer risk perception and patient satisfaction. Unselected Jewish women in Ontario were offered genetic testing for three common Jewish BRCA mutations. Before testing and 1-year post-testing, the women completed questionnaires which assessed cancer-related distress, cancer risk perception, and satisfaction. A total of 2080 women enrolled in the study; of these, 1516 (73%) completed a 1-year follow-up questionnaire. In women with a BRCA mutation, the mean breast cancer risk perception increased from 41.1% to 59.6% after receiving a positive genetic test result (p = 0.002). Among non-carriers, breast cancer risk perception decreased slightly, from 35.8% to 33.5% (p = 0.08). The mean level of cancer-related distress increased significantly for women with a BRCA mutation, but did not change in women without a mutation; 92.8% expressed satisfaction with the testing process. The results of this study suggest that the majority of Jewish women who took part in population genetic screening for BRCA1 and BRCA2 were satisfied with the delivery of genetic testing and would recommend testing to other Jewish women. However, women with a BRCA mutation experienced increased levels of cancer-related distress.

Objective To evaluate the relationship between use of fertility medication (i.e., selective estrogen receptor [ER] modulator, gonadotropin, or other) or infertility treatment (i.e., IVF or IUI) and the risk of ovarian cancer among women with a BRCA1 or BRCA2 mutation. Design A matched case-control study of 941 pairs of BRCA1 or BRCA2 mutation carriers with and without a diagnosis of ovarian cancer. Setting Genetic clinics. Patient(s) Detailed information regarding treatment of infertility was collected from a routinely administered questionnaire. Intervention(s) None. Main Outcome Measure(s) Conditional logistic regression was used to estimate odds ratios and 95% confidence intervals associated with fertility treatment. Result(s) There was no significant relationship between the use of any fertility medication or IVF treatment (odds ratio, 0.66; 95% confidence interval 0.18–2.33) and the subsequent risk of ovarian cancer. Conclusion(s) Our findings suggest that treatment for infertility does not significantly increase the risk of ovarian cancer among women with a BRCA mutation.

Background: Guidelines for genetic testing for BRCA1 or BRCA2 stipulate that a personal or family history of cancer is necessary to be eligible for testing. Approximately 2% of Ashkenazi Jewish women carry a mutation, but to date population-based testing has not been advocated. Little is known about the relative yield of a conventional genetic testing programme versus a programme of widespread testing in a population with common founder mutations. Methods: We provided both referral-based and Jewish population-based testing between 2008 and 2012. We compared the numbers of BRCA mutation carriers identified through the two streams and estimated the number of genetic counselling hours devoted to each programme. Results: From 2008 to 2012, 38 female carriers were identified through 487 referrals to our genetics centre (29 unaffected with cancer). During the same time, 6179 Jewish women were tested through our population-based programme and 93 mutation carriers were identified (92 unaffected with cancer). Fewer counsellor hours were devoted to the population-based than to the clinical referral-based testing programme. Conclusion: Genetic testing of all Jewish women above the age of 25 years will greatly expand the number of BRCA mutation carriers identified without a commensurate increase in the number of hours required for counselling.

The gingiva is often the main site of localized reactive overgrowths occurring in the oral cavity. The peripheral ossifying fibroma (POF) is one of them occurring frequently in the anterior maxilla of females usually in the second to third decade of life. This case report describes a case of POF present in the left upper maxillary anterior region obliterating the vestibule occurring in a 70-year-old female. The lesion was surgically excised down to the periosteum to prevent any chances of recurrence as the recurrence rate of POF is quite high.

DNA copy number variations (CNVs) are a significant and ubiquitous source of inherited human genetic variation. However, the importance of CNVs to cancer susceptibility and tumor progression has not yet been explored. Li–Fraumeni syndrome (LFS) is an autosomal dominantly inherited disorder characterized by a strikingly increased risk of early-onset breast cancer, sarcomas, brain tumors and other neoplasms in individuals harboring germline TP53 mutations. Known genetic determinants of LFS do not fully explain the variable clinical phenotype in affected family members. As part of a wider study of CNVs and cancer, we conducted a genome-wide profile of germline CNVs in LFS families. Here, by examining DNA from a large healthy population and an LFS cohort using high-density oligonucleotide arrays, we show that the number of CNVs per genome is well conserved in the healthy population, but strikingly enriched in these cancer-prone individuals. We found a highly significant increase in CNVs among carriers of germline TP53 mutations with a familial cancer history. Furthermore, we identified a remarkable number of genomic regions in which known cancer-related genes coincide with CNVs, in both LFS families and healthy individuals. Germline CNVs may provide a foundation that enables the more dramatic chromosomal changes characteristic of TP53-related tumors to be established. Our results suggest that screening families predisposed to cancer for CNVs may identify individuals with an abnormally high number of these events.

Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome frequently associated with germ line TP53 mutations. Unpredictable and disparate age of cancer onset is a major challenge in the management of LFS. Genetic modifiers, including the MDM2-SNP309 polymorphism, and genetic anticipation have been suggested as plausible explanations for young age of tumor onset, but the molecular mechanisms for these observations are unknown. We speculated that telomere attrition will increase genomic instability and cause earlier tumor onset in successive generations. We analyzed mean telomere length and MDM2-SNP309 polymorphism status in individuals from multiple LFS families and controls. A total of 45 peripheral blood lymphocyte samples were analyzed from 9 LFS families and 15 controls. High rate of MDM2-SNP309 was found in TP53 carriers (P = 0.0003). In children, telomere length was shorter in carriers affected with cancer than in nonaffected carriers and wild-type controls (P < 0.0001). The same pattern was seen in adults (P = 0.002). Within each family, telomere length was shorter in children with cancer than in their nonaffected siblings and their noncarrier parents. Telomere attrition between children and adults was faster in carriers than in controls. Our results support the role of MDM2-SNP309 as a genetic modifier in LFS. The novel finding of accelerated telomere attrition in LFS suggests that telomere length could explain earlier age of onset in successive generations of the same family with identical TP53/MDM2-SNP309 genotypes. Furthermore, telomere shortening could predict genetic anticipation observed in LFS and may serve as the first rational biological marker for clinical monitoring of these patients. [Cancer Res 2007;67(4):1415–8

1531 Background: Population based genetic testing for common Jewish mutations in BRCA1 and BRCA2 has been proposed, however it is unclear what the outcomes associated with population based testing ...

Objective: Root surfaces of periodontitis-affected teeth are hypermineralized and contaminated with cytotoxic and other biologically active substances. To achieve complete decontamination of the tooth surfaces, various methods including root conditioning following scaling and root planning are present. The main objective of this article is to throw light on the different root conditioning agents used and the goals accomplished by root conditioning in the field of periodontology. Materials and Methods: 20 human maxillary anterior teeth indicated for extraction due to chronic periodontitis were collected and root planned. The teeth were sectioned and specimens were divided into two groups — Group I and II. Group I dentin specimens were treated with EDTA and group II specimens were treated with tetracycline HCl solution at concentration of 10% by active burnishing technique for 3 minutes. The root surface samples were then examined by scanning electron microscope (SEM). Results: The results of the study showed that EDTA and tetracycline HCl were equally effective in removing the smear layer. It was observed that the total and patent dentinal tubules were more in number in teeth treated with tetracycline as compared to EDTA group. However, EDTA was found to be much more effective as root conditioning agent because it enlarged the diameter of dentinal tubules more than that of tetracycline HCl. Conclusion: Results of in-vitro study showed that both the agents are good root conditioning agents if applied in addition to periodontal therapy. However, further studies are required to establish the in-vivo importance of EDTA and tetracycline HCL as root conditioners.