Relevant bibliographies by topics / Medical genetics (excl. cancer genetics)

Academic literature on the topic 'Medical genetics (excl. cancer genetics)'

Author: Grafiati
Published: 10 December 2022
Last updated: 29 January 2023

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Journal articles on the topic "Medical genetics (excl. cancer genetics)"

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Changalucha, Marygoreth J., Martha F. Mushi, Rodrick Kabangila, Vitus Silago, Beda Likonda, and Stephen E. Mshana. "Mortality among Cancer Patients within 90 Days of Therapy in a Tertiary Hospital, Tanzania: Is Our Pretherapy Screening Effective?" Journal of Cancer Epidemiology 2020 (August 12, 2020): 1–8. http://dx.doi.org/10.1155/2020/4274682.

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Background. A high mortality has been reported during the first ninety days of cancer therapy and is more pronounced in patients with febrile neutropenia. The Bugando Medical Center oncology department offers cancer diagnosis and treatment services to the population of the Lake Zone of Tanzania with limited data on the outcome within 90 days of therapy. Here, we report the 90-day mortality and factors associated with it among cancer patients attending the oncology department of the tertiary hospital in Tanzania. Methodology. Enrolled participants underwent baseline physical examinations, and their functional status was assessed using Karnofsky score. On each clinic visit, full blood picture was taken and patients were investigated for infections. Data were entered in the Microsoft Excel, cleaned and coded and then transferred to STATA version 13 for analysis. Results. A total of 102 participants were included in the final analysis. Their median age was 50 years (38-60). The majority of the study participants were females 76 (75%), and 82 (80.4%) had primary school education. The majority of the patients had solid cancer 96 (94.1%). A total of 12 (11.8%) patients died within 90 days of starting therapy. Low hemoglobin level at the start of cancer therapy, Karnofsky score below 80%, and using 5-fluorouracil-containing therapy were statistically significantly found to be associated with mortality within 90 days of therapy among cancer patients. Conclusion. One tenth of cancer patients at Bugando Medical Center do not survive within 90 days of therapy; the mortality is significantly high among anemic patients, with poor performance status, on 5-fluorouracil regimen, and diagnosed with head and neck cancer, necessitating close follow-up of these patients.
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Jayaraj, Rama, Karthikbinu Polpaya, Milind Kunale, Gothandam Kodiveri Muthukaliannan, Sameep Shetty, Siddhartha Baxi, Ravishankar Ram Mani, et al. "Clinical Investigation of Chemotherapeutic Resistance and miRNA Expressions in Head and Neck Cancers: A Thorough PRISMA Compliant Systematic Review and Comprehensive Meta-Analysis." Genes 13, no. 12 (December 10, 2022): 2325. http://dx.doi.org/10.3390/genes13122325.

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Background: Chemoresistance is a significant barrier to combating head and neck cancer, and decoding this resistance can widen the therapeutic application of such chemotherapeutic drugs. This systematic review and meta-analysis explores the influence of microRNA (miRNA) expressions on chemoresistance in head and neck cancers (HNC). The objective is to evaluate the theragnostic effects of microRNA expressions on chemoresistance in HNC patients and investigate the utility of miRNAs as biomarkers and avenues for new therapeutic targets. Methods: We performed a comprehensive bibliographic search that included the SCOPUS, PubMed, and Science Direct bibliographic databases. These searches conformed to a predefined set of search strategies. Following the PRISMA guidelines, inclusion and exclusion criteria were framed upon completing the literature search. The data items extracted were tabulated and collated in MS Excel. This spreadsheet was used to determine the effect size estimation for the theragnostic effects of miRNA expressions on chemoresistance in HNC, the hazard ratio (HR), and 95% confidence intervals (95% CI). The comprehensive meta-analysis was performed using the random effects model. Heterogeneity among the data collected was assessed using the Q test, Tau2, I2, and Z measures. Publication bias of the included studies was checked using the Egger’s bias indicator test, Orwin and classic fail-safe N test, Begg and Mazumdar rank collection test, and Duval and Tweedie’s trim and fill methods. Results: After collating the data from 23 studies, dysregulation of 34 miRNAs was observed in 2189 people. These data were gathered from 23 studies. Out of the 34 miRNAs considered, 22 were up-regulated, while 12 were down-regulated. The TaqMan transcription kits were the most used miRNA profiling platform, and miR-200c was seen to have a mixed dysregulation. We measured the overall pooled effect estimate of HR to be 1.516 for the various analyzed miRNA at a 95% confidence interval of 1.303–1.765, with a significant p-value. The null hypothesis test’s Z value was 5.377, and the p-value was correspondingly noted to be less than 0.0001. This outcome indicates that the risk of death is determined to be higher in up-regulated groups than in down-regulated groups. Among the 34 miRNAs that were investigated, seven miRNAs were associated with an improved prognosis, especially with the overexpression of these seven miRNAs (miR15b-5p, miR-548b, miR-519d, miR-1278, miR-145, miR-200c, Hsa- miR139-3p). Discussion: The findings reveal that intricate relationships between miRNAs’ expression and chemotherapeutic resistance in HNC are more likely to exist and can be potential therapeutic targets. This review suggests the involvement of specific miRNAs as predictors of chemoresistance and sensitivity in HNC. The examination of the current study results illustrates the significance of miRNA expression as a theragnostic biomarker in medical oncology.
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Ingvarsson, S. "Genetics of breast cancer." Drugs of Today 40, no. 12 (2004): 991. http://dx.doi.org/10.1358/dot.2004.40.12.872574.

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Culler, Duane, Sarah J. Grimes, Louise S. Acheson, and Georgia L. Wiesner. "Cancer genetics in primary care." Primary Care: Clinics in Office Practice 31, no. 3 (September 2004): 649–83. http://dx.doi.org/10.1016/j.pop.2004.05.001.

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Larizza, L. "Medical and cancer cytogenetics." Cytogenetic and Genome Research 81, no. 2 (1998): 147–58. http://dx.doi.org/10.1159/000015016.

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Fantus, Richard J., and Brian T. Helfand. "Germline Genetics of Prostate Cancer: Time to Incorporate Genetics into Early Detection Tools." Clinical Chemistry 65, no. 1 (January 1, 2019): 74–79. http://dx.doi.org/10.1373/clinchem.2018.286658.

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Abstract BACKGROUND Prostate cancer (PCa) remains the most common solid malignancy in men, and its prevalence makes understanding its heritability of paramount importance. To date, the most common factors used to estimate a man's risk of developing PCa are age, race, and family history. Despite recent advances in its utility in multiple malignancies (e.g., breast and colon cancer), genetic testing is still relatively underutilized in PCa. CONTENT Multiple highly penetrant genes (HPGs) and single-nucleotide polymorphisms (SNPs) have been show to increase a patient's risk of developing PCa. Mutations in the former, like DNA damage repair genes, can confer a 2- to 3-fold increased risk of developing PCa and can increase the risk of aggressive disease. Similarly, PCa-risk SNPs can be used to create risk scores (e.g., genetic or polygenic risk scores) that can be used to further stratify an individual's disease susceptibility. Specifically, these genetic risk scores can provide more specific estimates of a man's lifetime risk ranging up to >6-fold higher risk of PCa. SUMMARY It is becoming increasingly evident that in addition to the standard family history and race information, it is necessary to obtain genetic testing (including an assessment of HPG mutation status and genetic risk score) to provide a full risk assessment. The additional information derived thereby will improve current practices in PCa screening by risk-stratifying patients before initial prostate-specific antigen testing, determining a patient's frequency of visits, and even help identify potentially at-risk family members.
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Klein, George. "148 Towards a genetics of cancer resistance." JAIDS Journal of Acquired Immune Deficiency Syndromes 51 (June 2009): 1. http://dx.doi.org/10.1097/01.qai.0000351104.70890.5e.

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Kolesar, Jill M. "33rd annual ASCO meeting—educational session on genetics in clinical cancer care and ASCO's train the trainer workshop on cancer genetics." Journal of Oncology Pharmacy Practice 4, no. 1 (March 1998): 17–22. http://dx.doi.org/10.1177/107815529800400102.

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Whelan, Nancy. "Georgetown University Medical Center: Lombardi Cancer Center." Molecular Medicine 5, no. 6 (June 1999): 349–50. http://dx.doi.org/10.1007/bf03402123.

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Berger, Elizabeth R., and Mehra Golshan. "Surgical Management of Hereditary Breast Cancer." Genes 12, no. 9 (August 31, 2021): 1371. http://dx.doi.org/10.3390/genes12091371.

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The identification that breast cancer is hereditary was first described in the nineteenth century. With the identification of the BRCA1 and BRCA 2 breast/ovarian cancer susceptibility genes in the mid-1990s and the introduction of genetic testing, significant advancements have been made in tailoring surveillance, guiding decisions on medical or surgical risk reduction and cancer treatments for genetic variant carriers. This review discusses various medical and surgical management options for hereditary breast cancers.
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Dissertations / Theses on the topic "Medical genetics (excl. cancer genetics)"

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Peterson, Kristen N. "Investigating the Role of Bptf in Immunoediting in Breast Cancer and Melanoma." VCU Scholars Compass, 2015. http://scholarscompass.vcu.edu/etd/3793.

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In this study, we explore the effects of NURF depletion on the growth of tumors in immune-competent mice. NURF depletion in tumors results in reduced tumor growth in immune-competent mice, suggesting enhanced anti-tumor immunity. Analysis of the tumor microenvironment by flow cytometry revealed a significantly elevated CD8 and progressively elevated activated CD8 phenotype in Bptf KD tumors, possibly contributing to the increase in cell death and decrease in tumor weight observed. Examination of antigen presentation was evaluated using the OT-1 and Pmel-17 models, though no significant difference in cytotoxicity was observed as measured by LDH and/or IFNγ assays. This indicates possible novel antigen presentation mechanisms in tumor cells, and not increased presentation of existing antigens, contributes to the decreased tumor weight observed in Bptf KD tumors.
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Whitmore, Scott Anthony. "Positional cloning of genes associated with human disease /." Title page, contents and summary only, 1999. http://web4.library.adelaide.edu.au/theses/09PH/09phw616.pdf.

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Thesis (Ph.D.) -- University of Adelaide, Dept. of Cytogenetics and Molecular Genetics, 1999.
Copies of author's previously published articles inserted. Amendments pasted onto back-end paper. Bibliography: leaves 255-286.
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Davis, Hayley Louise. "Functional analysis of cancer-causing FBXW7 mutations." Thesis, University of Oxford, 2012. http://ora.ox.ac.uk/objects/uuid:9c1b7f72-0733-439f-919a-6c66f7f44bfc.

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FBXW7 encodes the substrate recognition component of an SCF E3 ubiquitin ligase complex. This complex regulates the degradation of multiple targets, such as Notch1, c-Jun, c-Myc and cyclin E, that function in critical developmental and cancer pathways. FBXW7 mutations are found in cancers of diverse tissue origins, with one of the highest mutation rates in the colorectrum. FBXW7 mutations are typically missense mutations that disrupt the substrate recognition domain at critical arginine propellor-tips. Mutations are often mono-allelic suggesting that FBXW7 is not a typical tumour supressor gene. Despite this, most of the evidence on FBXW7 function to date comes from null systems. Several Fbxw7 -null mouse models have been generated and suffer homozygous embryonic lethality due to disrupted vascular development. Conditional Fbxw7-null mice have been created but do not in general reflect the mutation spectrum found in human tumours. In order to analyse the functional effects of Fbxw7 propellor-tip missense mutations, mice carrying a commonly-occurring Fbxw7 R482Q mutation were generated. This propellor-tip mutation was knocked-in constitutively and whilst heterozygous mice developed normally in utero, they died perinatally due to defective lung development. Cleft palate and eyelid fusion defects were also observed with incomplete penetrance. Fbxw7 substrates were screened in embryonic lungs and significantly elevated protein levels of Klf5 and Tgif1 were observed. The Fbxw7 R482Q mutation was also conditionally knocked-in in the gut. In the heterozygous state, large adenomas in the small intestine were observed at a low multiplicity, in approximately 30% of mice at an age greater than 300 days. Upregulation of Wnt signalling and Ctnnb1 mutations have been identified in a selection of these tumours. Breeding the Fbxw7R482Q allele onto Apc-mutant backgrounds led to accelerated morbidity, in which compound R482Q/Apc-mutant mice exhibited polyps of increased number and size. Elevated protein levels of Fbxw7 substrates Klf5 and Tgif1 were observed in adenoma and normal intestinal tissue from these mice. In vitro work using epitope-tagged murine wildtype and propellor-tip mutant Fbxw7 proteins showed that they were capable of dimerising, opening the prospect of investigating a dominant negative mechanism of action. To conclude, an Fbxw7 propellor-tip mutation studied in vivo resulted in both disrupted embryonic development and intestinal tumorigenesis and was distinct from Fbxw7 -null alleles.
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Ivansson, Emma. "Contribution of Immunogenetic Factors in Susceptibility to Cervical Cancer." Doctoral thesis, Uppsala universitet, Institutionen för genetik och patologi, 2009. http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-9552.

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Cervical cancer is the second most common cancer in women worldwide. Persistent infection by an oncogenic type of human papillomavirus (HPV) is a necessary but not sufficient cause and there is also a genetic component. This thesis aims to identify host genetic risk factors for cervical cancer based on the hypothesis that susceptibility is affected by genetic variation in the immune response towards HPV infection. Paper I analyzed allergy in sons and cervical cancer in their mothers, and revealed an inverse association between cervical cancer and allergy across generations. Mothers of allergic sons have a lower incidence of cervical cancer, supporting the importance of immunogenetic factors. Paper II investigated the HPV type in 1079 women diagnosed 1965-1993. All women were from families with at least two affected. It appeared that HPV 16 was becoming less common with time. There was no evidence that related women were prone to infection by the same type, indicating that the immunogenetic factors act in a general, rather than an HPV type specific, manner. Paper III and IV analysed the association of candidate genes with susceptibility to cervical cancer in 1306 women with cervical cancer in situ and 288 unrelated controls. Paper III showed the association of variation in the two immune response genes chemokine receptor 2 (CCR-2) and interleukin 4 receptor (IL-4R) with cervical cancer. In paper IV variation at several loci in the MHC region was studied and the importance of the HLA class II locus DQB1 emphasized. This thesis work supports the contribution of genes of the immune system to cervical cancer susceptibility. The genetic risk factors so far identified account for only a part of the genetic susceptibility, which implies that other yet undiscovered variants of importance remain to be identified.
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Dursun, Ahmet. "The molecular pathologies of BRCA1 in ovarian cancer patients from the west of Scotland." Thesis, University of Glasgow, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.368585.

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Cheng, Timothy. "Genetic susceptibility to endometrial cancer." Thesis, University of Oxford, 2015. http://ora.ox.ac.uk/objects/uuid:3a559ae0-156f-48a2-a64e-b03a13c562df.

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Endometrial cancer (EC) is the fourth most common cancer affecting women in the UK. Those with a family history of EC have an increased risk compared with the general population. Highly penetrant germline mutations in mismatch repair (MMR) genes and DNA polymerases account for only a small proportion of the familial aggregation. The aim of this thesis is to investigate the genetic susceptibility to EC in the general population using cases and controls of European ancestry. A GWAS meta-analysis totalling 7,737 EC cases and 37,144 controls yielded five novel EC risk loci of genome-wide significance (P < 5x10−8). In decreasing order of significance, these were at chromosomes 13q22.1 (rs11841589, near KLF5), 6q22.31 (rs13328298, in LOC643623 and near HEY2 and NCOA7), 8q24.21 (rs4733613, telomeric to MYC), 15q15.1 (rs937213, in EIF2AK4, near BMF) and 14q32.33 (rs2498796, in AKT1, near SIVA1). A second independent EC signal was found in the 8q24 locus. The association found in a previous EC GWAS at HNF1B on chromosome 17 was replicated at a higher significance, with the most significant SNP being rs11263763. CYP19A1 SNPs have previously been associated with EC and higher circulating levels of oestrogen from candidate studies, but I confirmed this locus to be genome-wide significant for the first time. Functional annotation and in vitro studies for the EC risk loci at the intergenic region of chromosome 13q22 suggested that the functional SNP sits within a transcriptional repressor for KLF5, with the higher-risk allele reducing repressor activity. The propensity for germline MMR and DNA polymerase muations to cause both EC and colorectal cancer (CRC) prompted me to search for common variants associated with both cancer phenotypes. An EC CRC GWAS meta-analysis showed little evidence of shared susceptibility loci. However, this meta-analysis revealed a novel genome-wide significant risk locus: rs3184504, a missense SH2B3 SNP that has not previously been associated with either EC or CRC. This thesis has enhanced the understanding of genetic susceptibility to sporadic EC and increased the number of genome-wide EC-associated variants to seven.
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Quinn, Bridget A. "Novel Therapeutic Strategies for Pancreatic Cancer." VCU Scholars Compass, 2014. http://scholarscompass.vcu.edu/etd/4671.

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Pancreatic cancer is a devastating disease that leaves patients with a very poor prognosis and few therapeutic options. Many of the treatment options available are the same that have been used for almost 2 decades. There is a dire need for both novel treatments for this disease as well as novel strategies of treatment. This body of work will introduce and provide evidence in support of a novel combination therapy for pancreatic cancer treatment, a novel strategy of modifying currently used chemotherapeutics for pancreatic cancer therapy, and a novel transgenic preclinical mouse model of pancreatic cancer. Sabutoclax, an antagonist of the anti-apoptotic Bcl-2 proteins, and Minocycline, a commonly used antibiotic, show potent synergy when used in combination in both pancreatic cancer cells and in multiple immune-deficient and immune-competent mouse models of pancreatic cancer. Sabutoclax alone is capable of inducing cell cycle arrest and apoptosis in cells and its cytotoxicity is enhanced significantly when combined with Minocycline. This combination results in the loss of Stat3 activation both in vitro and in vivo, which is essential for its toxicity. It also inhibits tumor growth and prolongs survival in the KPC transgenic mouse model of pancreatic cancer. Also presented here are studies that demonstrate efficacy in vivo of modified versions of Gemcitabine and Paclitaxel. These drugs are linked to a peptide that shows specificity for the EphA2 receptor, which is overexpressed on the surface of pancreatic cancer cells and only minimally on normal cells. This peptide results in increased cellular uptake of drug, as it is bypassing its normal mechanism of entry. These normal mechanisms are often dysregulated in cancer, leading to decreased uptake and drug resistance. The use of these modified drugs show significantly increased tumor growth inhibition as compared to the parent drug alone. Finally, we provide data on the characterization of a novel transgenic mouse model of pancreatic cancer. This model, the Pan Met View (PMV) mouse, combines the commonly used KPC transgenic mouse model of pancreatic cancer and a mouse that expresses a Luciferase reporter gene under the control of the cancer-specific promoter, CCN1. Our data shows that double transgenic PMV mice can now be used to follow primary tumor and metastasis development in real time by Bioluminescent imaging (BLI) through disease progression and potentially therapy. This strategy will enhance the use of genetically engineered mouse models (GEMMS) to study cancer initiation and progression with potential to non-invasively monitor therapy. These chapters present novel and exciting data that have the potential to open multiple avenues of translational study and result in significant advances in pancreatic cancer therapy.
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Österberg, Lovisa. "Characterization of genetic alterations in ovarian cancer associated with chemotherapy response /." Göteborg : Department of Oncology, Institute of Clinical Sciences, The Sahlgrenska Academy at University of Gothenburg, 2009. http://hdl.handle.net/2077/20291.

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LI, CHAO. "HEAT SHOCK PROTEINS AS NOVEL CANCER THERAPEUTICS: TARGETING THE HALLMARKS OF CANCER." VCU Scholars Compass, 2011. http://scholarscompass.vcu.edu/etd/2510.

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Molecular chaperones, commonly known as heat shock proteins (HSPs), are essential for mammalian cells to maintain homeostasis, and HSPs function by inducing an ATPase-coupled structural change, followed by interactions with diverse co-chaperones and over 200 client proteins implicated in many critical signaling networks. These highly expressed HSPs participate in the onset and progression of several human diseases including cancer, and their connection with tumorigenesis has facilitated research and clinical trials related to targeting HSPs as a novel anti-tumor therapy. The predominant mechanism of chaperone inhibition is through either disruption of the HSP association with client protein or an altered binding state that ultimately leads to proteasome-mediated degradation. Importantly, chaperone inhibition results in the degradation of several client proteins that play critical roles in many of the pathways known as the Hallmarks of Cancer, such as proliferation, angiogenesis, invasion, metastasis, and drug resistance. Here, we discuss: (1) the current knowledge of HSPs, particularly studies related to Hsp90-targeted cancer therapy, (2) the targeting of Hsp90-mediated signaling interactions to prevent emergence of core Hallmarks of Cancer, (3) the recent progression of Hsp90 inhibitors in clinical trials. Finally, we propose combinatorial therapy, additional inhibitor discovery, and location-specific inhibition of HSPs as necessary next steps in chaperone-targeted research relevant to cancer therapy.
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Zaro, Maren Lothyan. "Breast Cancer Risk Assessment: Evaluation of Screening Tools for Genetics Referral." BYU ScholarsArchive, 2016. https://scholarsarchive.byu.edu/etd/8824.

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Purpose: This study assessed effectiveness of five tools recommended by the US Preventive Services Task Force (USPSTF), designed to help primary care clinicians determine which unaffected patients to refer to genetics specialists for breast cancer risk assessment based on concerning family history. Design: This descriptive secondary analysis included 85 women aged 40-74. All participants had a first-degree female relative previously diagnosed with breast cancer who also had uninformative negative BRCA1/2 tests. Methods: Each pedigree was evaluated using the five tools including the Family History Screen-7 (FHS-7), Pedigree Assessment Tool (PAT), Manchester Scoring System, Referral Screening Tool (RST), and Ontario-Family History Assessment Tool (Ontario-FHAT). All five tools were applied to each study participant. Sensitivity, specificity, positive predictive value, and negative predictive value were calculated to describe each tool’s ability to identify women with elevated risk as calculated by the Claus model. Receiver operating curves (ROC) were also plotted. Differences between areas under the curve (AUCs) for all possible pairs of tools were estimated through logistic regression to assess for differences in tool performance. Results: Claus calculations identified 14 women out of 85 whose lifetime risk of breast cancer was elevated at > 15%. Only two tools, the Ontario-FHAT and FHS-7, identified all 14 women with elevated risk, a sensitivity of 100%. The FHS-7 tool flagged all 85 participants, meaning its specificity was zero. The Ontario-FHAT flagged 59 participants as needing referral (specificity 36.2%) and had a negative predictive value (NPV) of 100%, indicating that if a woman was not found to need a referral to a genetics professional, it is likely she did not have an elevated lifetime risk of developing breast cancer. AUC values were not significantly different between tools (all p values > .05), and thus were not helpful in discriminating between the tools. Conclusion: In this population, the Ontario-FHAT out-performed other tools in terms of sensitivity and negative predictive value; however, low specificity and positive predictive value must be balanced against these findings. Thus, the Ontario-FHAT can help determine which women would benefit from referral to a genetics specialist.
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Books on the topic "Medical genetics (excl. cancer genetics)"

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Leon, Bradlow H., Fishman Jack 1930-, and Osborne Michael P, eds. Cancer: Genetics and the environment. New York, N.Y: New York Academy of Sciences, 1997.

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Verma, Ram S. Genetics of human neoplasia. Greenwich, Conn: JAI Press, 1995.

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Offit, Kenneth. Clinical cancer genetics: Risk counseling and management. New York: Wiley-Liss, 1998.

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G, Williams Bryan R., and Casey Graham, eds. Molecular genetics and colorectal neoplasia: A primer for the clinician. New York: Igaku-Shoin, 1996.

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Sandra, Black, Sylvester Comprehensive Cancer Center, and University Biochemistry and Molecular Biology Foundation., eds. Advances in gene technology: DNA, RNA and cancer, February 5-9, 2000 ; proceedings of the 2000 Miami Nature Biotechnology Winter Symposium. Oxford: Oxford University Press, 2000.

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Jirtle, Randy L. Environmental Epigenomics in Health and Disease: Epigenetics and Disease Origins. Berlin, Heidelberg: Springer Berlin Heidelberg, 2013.

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S, Lakshmi M., ed. The genetics of cancer: Genes associated with cancer invasion, metastasis, and cell proliferation. San Diego: Academic Press, 1997.

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Baruah, Dhani Ram. Unfolding the mysteries of human genetic sciences in heart diseases and cancer. Sonapur, Assam: Dr. Dhani Ram Baruah Heart City & City of Human Genome, The Institute of Applied Human Genetic Engineering, 2008.

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Mukesh, Verma, Dunn Barbara K, Umar Asad, and National Cancer Institute (U.S.). Division of Cancer Prevention., eds. Epigenetics in cancer prevention: Early detection and risk assessment. New York: New York Academy of Sciences, 2003.

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Crafting science: A sociohistory of the quest for the genetics of cancer. Cambridge, Mass: Harvard University Press, 1996.

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Book chapters on the topic "Medical genetics (excl. cancer genetics)"

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Milanovic, Dusan. "Molecular Biology and Genetics of Lung Cancer." In Medical Radiology, 3–15. Berlin, Heidelberg: Springer Berlin Heidelberg, 2011. http://dx.doi.org/10.1007/174_2011_310.

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Freireich, E. J. "The role of molecular genetics in medical oncology." In Cancer Treatment An Update, 7–9. Paris: Springer Paris, 1994. http://dx.doi.org/10.1007/978-2-8178-0765-2_2.

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Abuzeid, Waleed M., Daqing Li, and Bert W. O’Malley Jr. "Gene Therapy for Head and Neck Cancer." In Medical Genetics in the Clinical Practice of ORL, 141–51. Basel: KARGER, 2011. http://dx.doi.org/10.1159/000322490.

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Leskošek, B. L., J. Dimec, K. Geršak, and P. Ferk. "A research information system (RIS) for breast cancer genetics." In XII Mediterranean Conference on Medical and Biological Engineering and Computing 2010, 851–54. Berlin, Heidelberg: Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-13039-7_215.

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Jorde, Lynn B., John C. Carey, and Michael J. Bamshad. "Cancer Genetics." In Medical Genetics, 212–30. Elsevier, 2010. http://dx.doi.org/10.1016/b978-0-323-05373-0.00011-7.

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Turnpenny, Peter D., and Sian Ellard. "Cancer genetics." In Emery's Elements of Medical Genetics, 196–218. Elsevier, 2007. http://dx.doi.org/10.1016/b978-0-7020-2917-2.50020-0.

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Whitworth, J., and E. Maher. "Cancer Genetics and Genomics." In Medical and Health Genomics, 261–84. Elsevier, 2016. http://dx.doi.org/10.1016/b978-0-12-420196-5.00020-4.

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"Genetics." In Oxford Handbook for Medical School, edited by Kapil Sugand, Miriam Berry, Imran Yusuf, Aisha Janjua, Chris Bird, David Metcalfe, Harveer Dev, et al., 341–48. Oxford University Press, 2019. http://dx.doi.org/10.1093/med/9780199681907.003.0016.

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Clinical genetics is the medical specialty that deals with diagnosis and counselling of patients affected (or potentially affected) with disease that may have a genetic basis. These conditions include chromosomal abnormalities (e.g. Down’s syndrome/trisomy 21), single gene disorders (e.g. cystic fibrosis), familial cancer syndromes (e.g. hereditary non-polyposis colorectal cancer), and birth defects with a genetic component (e.g. cleft palate). The service is largely consultant led, supported by genetic counsellors in tertiary referral centres. Different inheritance patterns are described, autosomal dominant, autosomal recessive, X-linked, and mitochondrial, as well as the range of different genetic tests currently in clinical use (karyotype, microarray, gene panel, exome sequencing, and genome studies). The importance of empathetic communication, a detailed family history, and a multidisciplinary approach are emphasized.
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Nolis, Tom, and Rodney J. Scott. "Genetic Contributors to Hereditary Cancer Predispositions: Do We Have Enough Information?" In Modern Medical Genetics and Genomics. IntechOpen, 2019. http://dx.doi.org/10.5772/intechopen.81870.

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"Molecular and medical genetics." In Oxford Assess and Progress: Medical Sciences, edited by Jade Chow, John Patterson, Kathy Boursicot, and David Sales. Oxford University Press, 2012. http://dx.doi.org/10.1093/oso/9780199605071.003.0015.

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Genetics has come a long way since the pioneering work on plant inheritance patterns by the Augustinian monk, Gregor Mendel, in the mid-nineteenth century. In the first decades of the twentieth century, Archibald Garrod, a London physician, was studying a class of diseases which came to be called ‘inborn errors of metabolism’. As a result of studies on conditions such as alkaptonuria (a rare disease involving altered phenylalanine and tyrosine metabolism, with production of dark urine and a rare form of arthritis), Garrod postulated the ‘one gene – one enzyme’ hypothesis, namely that most inborn errors of metabolism result from errors in single genes that code for enzymes. This showed remarkable foresight, since the actual nature of DNA and the way genes are transcribed and translated was not fully established until the work of Watson and Crick and others in the 1950s and beyond. One gene – one enzyme (or one protein) has now been modified to become one gene – one peptide, but the principle holds. As more has been learned about human genetics and genetic mutation, especially following the Human Genome Project, the number of genetic defects known to underpin diseases and predisposition to disease has burgeoned. All this new knowledge is adding to earlier knowledge of diseases that were detected by studying chromosome number (cytogenetics) or by examining family pedigrees for the patterns of disease inheritance. Studies of family pedigrees exposed the genetic nature of diseases as diverse as cystic fibrosis, haemophilia, sickle-cell disease, and Huntington’s disease. Nowadays, a doctor’s training in medical genetics will cover the genetic code, gene expression, gene regulation and mutation, cancer genetics, chromosomal abnormalities, abnormalities at the gene level, genetic polymorphism, the principles of gene therapy, and the emerging science of pharmacogenetics. As it has become evident not only that diseases are a direct expression of particular genes or mutations, but that genetic predisposition can be identified for a great number of diseases, both ethical and therapeutic questions arise. For example, will every healthy person want or need to have knowledge of his or her own future risk for specific diseases? To what extent will gene therapies or pharmacogenetics have to be tailored to an individual’s genetic constitution, and at what financial cost?
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Conference papers on the topic "Medical genetics (excl. cancer genetics)"

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"766 BGRS/SB-2022 Medical genetics and cancer studies based on next-gen sequencing presented at the bioinformatics conferences and young scientists schools." In Bioinformatics of Genome Regulation and Structure/Systems Biology (BGRS/SB-2022) :. Institute of Cytology and Genetics, the Siberian Branch of the Russian Academy of Sciences, 2022. http://dx.doi.org/10.18699/sbb-2022-442.

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Ó, Júlia R. S. do, Joaquim F. Fernandes, Rafael C. E. Segato, Frank L. B. Rodrigues, Ana Cláudia G. Lima, Nilceana M. A. Freitas, Deidimar C. B. Abreu, and Leandro G. Oliveira. "PALB2 MUTATION IN A 31-YEAR-OLD WOMAN: A CASE REPORT." In Abstracts from the Brazilian Breast Cancer Symposium - BBCS 2021. Mastology, 2021. http://dx.doi.org/10.29289/259453942021v31s2039.

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Introduction: Oncogenetics advances allow to identifying the relationship between many genes and breast cancer (BC). The PALB2 (partner and localizer of BRCA2) gene is intimately involved in DNA damage response, and although very rare, heterozygous mutations are highly penetrant for BC. There are not enough studies to define the ideal follow-up and management of the patients with BC. Case Report: A 31-year-old female, G0P0A0, presents complaining of a lump in her right breast with no family history of cancer. A breast ultrasound was performed and revealed BI-RADS3. Core biopsy revealed a grade 3 ductal infiltrate carcinoma, with micropapillary features. Immunohistochemistry testing detected estrogen receptor (100%), progesterone receptor (3%), negative HER2 (−), and Ki67 (proliferation marker) (15%). The patient presented with a breast mass (8 cm × 8 cm), nipple inversion, and clinically was N1. Magnetic resonance imaging of the breast showed right axillary lymph node enlargement of 1.1´1.6 cm, and retroareolar and lateral quadrants of the right breast distortions. Because of diffuse skin thickening and nipple retraction, the disease was classified as cT4N1. She received neoadjuvant chemotherapy (weekly paclitaxel followed by dose-dense doxorubicin and cyclophosphamide) with concomitant ovarian suppression. Genetic testing for ovarian cancer and BC found the pathogenic variant c.2164_2168del, p. (Met723Valfs*21), in heterozygosity in the PALB2 gene and interpreted based on the clinical picture and the classification of variants of the American College of Medical Genetics. A right mastectomy with pathologic complete response in the breast and a micrometastasis node 1.5 mm/10 (ypT0N1mic) was conducted. Prophylactic left adenomastectomy was negative for malignancy. In the adjuvant setting, radiotherapy and endocrine therapy with ovarian suppression and aromatase inhibitor for 5 years were scheduled. Conclusion: The critical role of PALB2 in DNA repair increases the risk for BC and contralateral BCs. There is no evidence of adverse outcomes or toxicity with the use of radiotherapy in PALB2 carriers. Locoregional management and prophylactic decisions should be made on the basis of conventional clinicopathologic factors and international guidelines recommendations.
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