Log in

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

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

To see the other types of publications on this topic, follow the link: Medical genetics (excl. cancer genetics).

Author: Grafiati

Published: 10 December 2022

Last updated: 29 January 2023

Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles

Select a source type:

Consult the top 50 journal articles for your research on the topic 'Medical genetics (excl. cancer genetics).'

Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.

You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.

Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.

1

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.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

2

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.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

3

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

4

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

5

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

Full text

APA, Harvard, Vancouver, ISO, and other styles

6

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.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

7

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

8

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

9

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.

Full text

APA, Harvard, Vancouver, ISO, and other styles

10

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.

Full text

Abstract:

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.

APA, Harvard, Vancouver, ISO, and other styles

11

Reardon, W. "Medical genetics: advances in brief: Risks of cancer in BRCA1-mutation carriers." Journal of Medical Genetics 31, no. 6 (June 1, 1994): 504. http://dx.doi.org/10.1136/jmg.31.6.504-d.

Full text

APA, Harvard, Vancouver, ISO, and other styles

12

Wilson, L. "Medical genetics: advances in brief: Contribution of BRCA1 mutations to ovarian cancer." Journal of Medical Genetics 34, no. 9 (September 1, 1997): 787. http://dx.doi.org/10.1136/jmg.34.9.787.

Full text

APA, Harvard, Vancouver, ISO, and other styles

13

Peters, June. "Breast Cancer Genetics: Relevance to Oncology Practice." Cancer Control 2, no. 3 (May 1995): 107327489500200. http://dx.doi.org/10.1177/107327489500200304.

Full text

Abstract:

Our knowledge of genetic mechanisms involved in cancer initiation, promotion, and progression recently bas expanded. In order to benefit from this expansion and to apply genetic discoveries to current protocols for prevention, screening, diagnosis, treatment, prognosis, and monitoring for minimal residual disease, a working knowledge must be developed of the genetic principles, oncogenes, tumor suppressor genes, and genetic models of carcinogenesis. Genetic susceptibility testing for cancer soon will be introduced into oncology practice through established familial risk counseling programs, and the oncologist must be prepared to address the medical, ethical, legal, economic, psychological, and social issues that accompany this testing.

APA, Harvard, Vancouver, ISO, and other styles

14

Hainaut, Pierre. "Introduction to the molecular genetics of cancer (molecular medical science series)." Trends in Cell Biology 2, no. 11 (November 1992): 350–51. http://dx.doi.org/10.1016/0962-8924(92)90187-r.

Full text

APA, Harvard, Vancouver, ISO, and other styles

15

Orlov, Yuriy L., Ancha V. Baranova, and Tatiana V. Tatarinova. "Bioinformatics Methods in Medical Genetics and Genomics." International Journal of Molecular Sciences 21, no. 17 (August 28, 2020): 6224. http://dx.doi.org/10.3390/ijms21176224.

Full text

Abstract:

Medical genomics relies on next-gen sequencing methods to decipher underlying molecular mechanisms of gene expression. This special issue collects materials originally presented at the “Centenary of Human Population Genetics” Conference-2019, in Moscow. Here we present some recent developments in computational methods tested on actual medical genetics problems dissected through genomics, transcriptomics and proteomics data analysis, gene networks, protein–protein interactions and biomedical literature mining. We have selected materials based on systems biology approaches, database mining. These methods and algorithms were discussed at the Digital Medical Forum-2019, organized by I.M. Sechenov First Moscow State Medical University presenting bioinformatics approaches for the drug targets discovery in cancer, its computational support, and digitalization of medical research, as well as at “Systems Biology and Bioinformatics”-2019 (SBB-2019) Young Scientists School in Novosibirsk, Russia. Selected recent advancements discussed at these events in the medical genomics and genetics areas are based on novel bioinformatics tools.

APA, Harvard, Vancouver, ISO, and other styles

16

Yachida, Shinichi, and Christine A. Iacobuzio-Donahue. "The Pathology and Genetics of Metastatic Pancreatic Cancer." Archives of Pathology & Laboratory Medicine 133, no. 3 (March 1, 2009): 413–22. http://dx.doi.org/10.5858/133.3.413.

Full text

Abstract:

Abstract Context.—Metastatic disease is the most critical determinant of resectability of pancreatic cancer and accounts for the poor outcome of patients with this disease. Thus, a better understanding of metastatic pancreatic cancer will afford new opportunities for therapeutic intervention. Objective.—To summarize and discuss the current understanding of the clinical and molecular features of metastatic pancreatic cancer. Data Sources.—Published literature on advanced stage pancreatic cancer, pancreatic cancer metastasis, and autopsy findings in patients with pancreatic cancer. Conclusions.—In the clinical setting, it can be difficult to distinguish a metastatic pancreatic carcinoma from primary neoplasms in the liver, lung, or ovary. However, immunolabeling for DPC4 protein as part of a diagnostic panel is useful for making this distinction. Emerging data from a variety of investigators now indicate that overexpression of EphA2, loss of DPC4 and MKK4, and aberrant activation of the Hedgehog signaling pathway are associated with metastatic propensity of pancreatic cancers, providing novel therapeutic targets for the most lethal stage of this disease.

APA, Harvard, Vancouver, ISO, and other styles

17

Olah, Edith. "Molecular Cancer Genetics in Eastern and Central Europe." Disease Markers 15, no. 1-3 (1999): 75–77. http://dx.doi.org/10.1155/1999/257257.

Full text

APA, Harvard, Vancouver, ISO, and other styles

18

Baars, J. E., E. M. A. Bleiker, E. van Riel, C. C. Rodenhuis, M. E. Velthuizen, K. J. Schlich, and M. G. E. M. Ausems. "Active approach for breast cancer genetic counseling during radiotherapy: long-term psychosocial and medical impact." Clinical Genetics 85, no. 6 (February 4, 2014): 524–31. http://dx.doi.org/10.1111/cge.12335.

Full text

APA, Harvard, Vancouver, ISO, and other styles

19

Barnicoat, A. "Medical genetics: advances in brief: Linkage to BRCA 2 region in hereditary male breast cancer." Journal of Medical Genetics 33, no. 2 (February 1, 1996): 171. http://dx.doi.org/10.1136/jmg.33.2.171-b.

Full text

APA, Harvard, Vancouver, ISO, and other styles

20

Hoenig, Megan, Nicholas Mitsiades, Ashlee Byrnes, Stacey Edwards, Tanya Eble, and Shweta Dhar. "Somatic genetic testing in cancer: how the medical genetics provider can help." Molecular Genetics and Metabolism 132 (April 2021): S203—S204. http://dx.doi.org/10.1016/s1096-7192(21)00400-5.

Full text

APA, Harvard, Vancouver, ISO, and other styles

21

Oyouni, Atif Abdulwahab A. "Human Cancer Genetics, Stem Cells, and Medical Molecular Biology: An Epigrammatic Review." Biosciences, Biotechnology Research Asia 14, no. 3 (September 25, 2017): 881–86. http://dx.doi.org/10.13005/bbra/2521.

Full text

Abstract:

ABSTRACT: Cancer is a relatively common disease that affects millions of people worldwide. Although cancer itself has been highly researched, discovering a cure for cancer remains a challenge, primarily because the causes of this disease are not entirely understood. It can arise from mutations and epigenetic alterations that go on to activate oncogenes and inactivate tumour suppressor genes. The cells that drive cancer formation proliferate in an uncontrolled manner and originate from various pathways, which have been highlighted in this review. Briefly, cancer stem cells can arise from three different scenarios: a) a stem cell undergoes mutation, b) the progenitor cell undergoes several mutations and c) an already differentiated cell re-differentiates due to mutation to drive it back to a stem cell-like state.

APA, Harvard, Vancouver, ISO, and other styles

22

Rosman, Diana S., Virginia Kaklamani, and Boris Pasche. "New Insights into Breast Cancer Genetics and Impact on Patient Management." Current Treatment Options in Oncology 8, no. 1 (June 7, 2007): 61–73. http://dx.doi.org/10.1007/s11864-007-0021-5.

Full text

APA, Harvard, Vancouver, ISO, and other styles

23

Gramling, Robert, David Anthony, Jan Lowery, Lori Ballinger, Deb Ma, Rana Habbal, Nancy Leighton, and Deborah Bowen. "Association between screening family medical history in general medical care and lower burden of cancer worry among women with a close family history of breast cancer." Genetics in Medicine 7, no. 9 (December 2005): 640–45. http://dx.doi.org/10.1097/01.gim.0000187123.76699.e9.

Full text

APA, Harvard, Vancouver, ISO, and other styles

24

Paulson, Vera A., Erin R. Rudzinski, and Douglas S. Hawkins. "Thyroid Cancer in the Pediatric Population." Genes 10, no. 9 (September 18, 2019): 723. http://dx.doi.org/10.3390/genes10090723.

Full text

Abstract:

Thyroid cancer is rare in the pediatric population, but thyroid carcinomas occurring in children carry a unique set of clinical, pathologic, and molecular characteristics. In comparison to adults, children more often present with aggressive, advanced stage disease. This is at least in part due to the underlying biologic and molecular differences between pediatric and adult thyroid cancer. Specifically, papillary thyroid carcinoma (which accounts for approximately 90% of pediatric thyroid cancer) has a high rate of gene fusions which influence the histologic subtypes encountered in pediatric thyroid tumors, are associated with more extensive extrathyroidal disease, and offer unique options for targeted medical therapies. Differences are also seen in pediatric follicular thyroid cancer, although there are few studies of non-papillary pediatric thyroid tumors published in the literature due to their rarity, and in medullary carcinoma, which is most frequently diagnosed in the pediatric population in the setting of prophylactic thyroidectomies for known multiple endocrine neoplasia syndromes. The overall shift in the spectrum of histotypes and underlying molecular alterations common in pediatric thyroid cancer is important to recognize as it may directly influence diagnostic test selection and therapeutic recommendations.

APA, Harvard, Vancouver, ISO, and other styles

25

Burke, Wylie, and Nancy Press. "Ethical Obligations and Counseling Challenges in Cancer Genetics." Journal of the National Comprehensive Cancer Network 4, no. 2 (February 2006): 185–91. http://dx.doi.org/10.6004/jnccn.2006.0018.

Full text

Abstract:

Cancer genetics is creating new practice opportunities in medical genetics, oncology, and primary care. The ethical and counseling challenges of this new area of practice are not unique but sometimes take new form in the context of genetic risk. This article uses cases to explore the issues associated with shared family risk, including competing concerns of family members, duty to warn relatives of genetic risk, and testing of children and other relatives. The ethical obligations of clinicians start with the need to maintain competence in the face of rapidly evolving science. Clinicians should be able to identify patients within their practice who are candidates for genetic testing. When genetic susceptibility to cancer is identified, patients should be offered counseling and follow-up, with referral as appropriate, to ensure delivery of care consistent with current standards. When patients experience barriers to needed health care, clinicians should advocate for their needs. Clinicians must ensure the autonomy and informed decision-making of all members of cancer-prone families. Clinicians must also provide emotional support and accurate information about cancer risks and cancer risk reduction measures, including uncertainties. Teamwork among different specialties is important in addressing these challenges.

APA, Harvard, Vancouver, ISO, and other styles

26

Voon, Pei Jye, and Hwai Loong Kong. "Tumour Genetics and Genomics to Personalise Cancer Treatment." Annals of the Academy of Medicine, Singapore 40, no. 8 (August 15, 2011): 362–68. http://dx.doi.org/10.47102/annals-acadmedsg.v40n8p362.

Full text

Abstract:

Personalising cancer treatment to optimise therapeutic efficacy while minimising exposure to the toxicities of ineffective drugs is the holy grail of medical oncology. Clinical parameters and conventional histopathological characterisations of cancers are no longer adequate to guide the practising oncologists in treatment planning. The explosion of knowledge in cancer molecular biology has led to the availability of tumour-specific molecules that serve as predictive and prognostic markers. In breast cancer, HER-2 positivity is a good predictor for success of anti-HER-2 trastuzumab monoclonal antibody therapy. K-ras mutational status predicts the likelihood of response to anti-EGFR monoclonal antibodies in advanced colorectal cancers. Similarly, EGFR mutational status in pulmonary adenocarcinoma is highly predictive for responses or otherwise to tyrosine kinase inhibitors. Notwithstanding our deeper understanding of tumour biology and the availability of predictive and prognostic laboratory tools, we are still far from achieving our dream of the perfect personalised cancer treatment, as each tumour in a particular patient is unique to itself. A much coveted, real-time, anti-tumour drug sensitivity testing in the future may one day pave the way for truly treating the right tumour with the right drug in the right patient. Key words: Personalised cancer treatment, Predictive markers, Prognostic markers

APA, Harvard, Vancouver, ISO, and other styles

27

Seror, R., A. Lafourcade, Y. De-Rycke, B. Fautrel, X. Mariette, and F. Tubach. "THU0151 RISK OF MALIGNANCIES ASSOCIATED WITH CS DMARDS IN RHEUMATOID ARTHRITIS: COMPARISON WITH GENERAL POPULATION AND BIOLOGIC TREATED PATIENTS (ANALYSIS OF A NATIONAL CLAIM DATABASE)." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 291.1–291. http://dx.doi.org/10.1136/annrheumdis-2020-eular.3656.

Full text

Abstract:

Background:Objectives:To estimate the incidence rate of malignancies in csDMARD-treated RA patients and to compare it to that of general population and to biologic-treated RA patientsMethods:We conducted an historical cohort study within the national claim database that prospectively records individual health resource use of 86% of the French population (65 million inhabitants). RA adult patients were identified based on ICD-10 code (M05 or M06) between 2007-2016. Patients with previous cancer history were excluded. Treatment exposures were incident first use of any treatment: csDMARD (methotrexate, leflunomide, sulfasalazine, azathioprine, hydroxychloroquine) or biologics (anti-TNF, rituximab, abatacept, tocilizumab, ustekinumab, anakinra). To identify incident treatment periods, only patients who did not receive any treatment in the 1-year period before the index date were selected. Exposure was defined with a 90-day latency after treatment initiation and a 180-day carry-over period after drug discontinuation.To compare the risk of malignancies between csDMARD-treated patients and general population, standardized incidence ratio (SIR [95%CI]) were calculated using FRANCIM (“France Cancer Incidence et Mortalité”) estimations as reference.To compare the risk of malignancies between csDMARD and biologics treated patients, a dynamically propensity score (including age, sex, year of first occurrence of RA code, date of treatment initiation, number of previous DMARDs, Charlson’s comorbidity index, diagnosis of tobacco and/or alcohol-associated disorders, number of hospitalizations for RA, cumulative corticosteroid dose) was constructed using pooled logistic regression. Hazard Ratios (HRs) for risk of cancer were estimated using Cox proportional hazards model after dynamically propensity score matching. Exposure was considered as a time-dependent variable.Results:Between 2007 and 2016, 83,706 RA patients exposed to csDMARD (n=63,837) and/or biologics (n=19,727) were identified.As compared to the general population, csDMARDs treated patients had an increased risk of lung cancer (SIR=1.29 [1.14; 1.45]), invasive melanoma (SIR=1.52 [1.24; 1.86]) and a borderline increased risk of breast cancer (SIR=1.11 [1.01;1.22]). By contrast, they had a decreased risk of pancreatic cancer (SIR=0.68[0.51-0.9]) and liver cancer (SIR=0.43 [0.27; 0.67]). This later is due to a protopathic bias.After propensity score matching, analyses the risk of malignancies between csDMARD and biologics treated patients were conducted on 19727 patients in each group (mean age: 51 ±14 yrs; female: 74.6%). Malignancies occurred in 435 patients exposed to biologics and 332 patients exposed to csDMARD. The overall risk of malignancies (figure), risk of solid cancer (excluding non-melanoma skin cancer), lymphoma, and other hematologic malignancies did not differ significantly between csDMARD and all biologics (table). Regarding organ specific cancer, no difference was observed. Results were similar for biologic in monotherapy or associated with csDMARD.Type of malignanciesHR [95%CI] csDMARD (ref) vs. all biologicsp-valueAll malignancies (excl. non-melanoma skin cancer)0.99 [0.86;1.14]p=0.9Solid cancer (excl. non-melanoma skin cancer)0.95 [0.82;1.11]p=0.5Lymphoma1.35 [0.72;2.53]p=0.3Other hematologic malignancies1.18 [0.56;2.49]p=0.7Conclusion:Using a large nationwide representative healthcare database, the overall risk of malignancies and the risk of organ-specific cancers and hematologic malignancies in biologic treated RA patients did not differ from that of patients treated with csDMARD. Compared to general population, patients treated with csDMARD had an increased risk of lung cancer and melanoma, but a decreased risk of pancreatic cancer.Disclosure of Interests:Raphaèle Seror Consultant of: BMS, Medimmune, Novartis, Pfizer, GSK, Lilly, Alexandre Lafourcade: None declared, yann de-rycke: None declared, Bruno Fautrel Grant/research support from: AbbVie, Lilly, MSD, Pfizer, Consultant of: AbbVie, Biogen, BMS, Boehringer Ingelheim, Celgene, Lilly, Janssen, Medac MSD France, Nordic Pharma, Novartis, Pfizer, Roche, Sanofi Aventis, SOBI and UCB, Xavier Mariette Consultant of: BMS, Gilead, Medimmune, Novartis, Pfizer, Servier, UCB, Florence Tubach Grant/research support from: Florence TUBACH is head of the Centre de Pharmacoépidémiologie (Cephepi) of the Assistance Publique – Hôpitaux de Paris and of the Clinical Research Unit of Pitié-Salpêtrière hospital, both these structures have received research funding, grants and fees for consultant activities from a large number of pharmaceutical companies, that have contributed indiscriminately to the salaries of its employees. Florence Tubach didn’t receive any personal remuneration from these companies.

APA, Harvard, Vancouver, ISO, and other styles

28

Barber, J. C. K. "Medical genetics: advances in brief: KAI1, a metastasis suppressor gene for prostate cancer on human chromosome 11p11.2." Journal of Medical Genetics 32, no. 9 (September 1, 1995): 755. http://dx.doi.org/10.1136/jmg.32.9.755-a.

Full text

APA, Harvard, Vancouver, ISO, and other styles

29

Bronner, Karen, Ilse Mesters, Ahuva Weiss-Meilnik, Ravit Geva, Guy Rozner, Hana Strul, Moshe Inbar, Zamir Halpern, and Revital Kariv. "Do individuals with a family history of colorectal cancer adhere to medical recommendations for the prevention of colorectal cancer?" Familial Cancer 12, no. 4 (April 2, 2013): 629–37. http://dx.doi.org/10.1007/s10689-013-9627-x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

30

Malheiro, Adriana J., Laura Charlotte Dean, and Brandi L. Kattman. "Personalizing cancer treatment using gene activity scores with the NIH Medical Genetics Summaries." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): e22000-e22000. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e22000.

Full text

Abstract:

e22000 Background: Oncology professionals need to access a wide range of genetic tests, including tests for cancer biomarkers, predisposition to hereditary cancers, and pharmacogenetic tests. While pharmacogenetic testing is fundamental to personalized medicine, the adoption of testing has been slow, partly due to a lack of readily accessible information about new developments, such as gene activity scores. Methods: Medical Genetics Summaries (MGS) was created to bridge the translation gap between genetic test results and personalized treatment plans. MGS is a free, regularly updated, peer-reviewed pharmacogenetics resource. The complete set of summaries can be browsed online or saved as PDF (www.ncbi.nlm.nih.gov/books/n/gtrbook). Excerpts of the summaries can be found via PubMed (www.pubmed.gov) and MedGen (www.ncbi.nlm.nih.gov/medgen). Results: Of the 45 drug-gene interactions included so far in MGS, 10 are commonly used cancer drugs. These include capecitabine (Xeloda) and fluorouracil (Adrucil), which are both fluoropyrimidines—antimetabolite drugs used in the treatment of colon cancer and breast cancer. The DPYD gene encodes the rate-limiting enzyme for the breakdown of fluoropyrimidines. Patients with specific variations in the DPYD gene (e.g., DPYD*2A, DPYD*13) have decreased or absent enzyme activity. In these patients, the standard recommended dose of fluoropyrimidine can cause life-threatening bone marrow suppression and neurotoxicity. MGS presents the dosing recommendation for each DPYD phenotype, which are clearly defined using the recently assigned DPYD activity scores, from authoritative professional guidelines such as the National Comprehensive Cancer Network (NCCN) and the Clinical Pharmacogenetics Implementation Consortium (CPIC), in addition to the FDA. MGS also provides an overview of the drug (drug class, mechanism of action, adverse events), an introduction to the gene(s) and significant alleles, and guidance on genetic testing—along with links to the relevant tests in the NIH Genetic Testing Registry (GTR, www.ncbi.nlm.nih.gov/gtr). Conclusions: This presentation will demonstrate how NIH precision medicine resources, with a focus on MGS, can simplify the process of ordering and interpreting pharmacogenetic tests and efficiently tailor care for your patient.

APA, Harvard, Vancouver, ISO, and other styles

31

Gordon, Adam S., Elisabeth A. Rosenthal, David S. Carrell, Laura M. Amendola, Michael O. Dorschner, Aaron Scrol, Ian B. Stanaway, et al. "Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting." American Journal of Human Genetics 105, no. 3 (September 2019): 526–33. http://dx.doi.org/10.1016/j.ajhg.2019.07.012.

Full text

APA, Harvard, Vancouver, ISO, and other styles

32

O’Neill, Sally C. "A hereditary cancer syndrome seminar: perspective of a Continuing Medical Education (CME) Director." Familial Cancer 7, no. 1 (November 9, 2007): 3–4. http://dx.doi.org/10.1007/s10689-007-9170-8.

Full text

APA, Harvard, Vancouver, ISO, and other styles

33

Seror, R., B. Fautrel, A. Lafourcade, Y. De-Rycke, X. Mariette, and F. Tubach. "OP0124 RISK OF MALIGNANCIES ACROSS BIOLOGIC CLASSES IN RHEUMATOID ARTHRITIS: ANALYSIS OF A NATIONAL CLAIM DATABASE." Annals of the Rheumatic Diseases 79, Suppl 1 (June 2020): 81.2–82. http://dx.doi.org/10.1136/annrheumdis-2020-eular.3687.

Full text

Abstract:

Background:Objectives:To estimate the incidence rate of malignancies in biologic-treated RA patients, and to compared it to the general population and across different classes of biologicsMethods:We conducted an historical cohort study within the French the national claim database, named SNDS. This database prospectively records individual health resource of 86% of the entire French population (65 million inhabitants) since 2007. RA adult patients were identified based on ICD-10 code (M05 or M06). Patients with cancer history were excluded. Treatment exposures focused on incident first use of biologics including all anti-TNF, rituximab, abatacept, tocilizumab, ustekinumab, anakinra. To identify incident treatment periods, only patients who did not receive any biologics in the 1-year period before the index date were selected. In the base case analysis, exposure was defined with a 90-day latency after treatment initiation and a 180-day carry-over period after drug discontinuation.To compare the risk of malignancies between biologic treated patients and general population, Standardized incidence ratio (SIR [95%CI]) were calculated using FRANCIM (“France Cancer Incidence et Mortalité”) estimations as reference.To compare the risk of malignancies between biologics, a propensity score (including age, sex, year of first occurrence of RA code, date of treatment initiation, number of previous DMARDs, Charlson comorbidity index, diagnosis of tobacco and/or alcohol-associated disorders, number of hospitalizations for RA, cumulative corticosteroid dose) was calculated for each comparison. Hazard Ratios (HRs) for risk of cancer were estimated using Cox proportional hazard model using inverse probability of treatment weighting (IPTW) with propensity score. Exposure was considered as a time-dependent variable and propensity scores were estimated dynamically using pooled logistic regression reassessed for each new exposure.Results:Between 2007 and 2016, 31,792 patients (112,802 patient-years)- were exposed to biologics. The annual incidence rate of overall malignancies was 0.865 per 100 patients-years. Malignancies occurred in 730 patients exposed to anti-TNF, 235 patients exposed to another biologic and 11 exposed to both.As compared to the general population, biologic treated patients had an increased risk of lung cancer (SIR=1.35 [1.14;1.60]), a decreased risk of pancreatic cancer (SIR=0.52[0.31-0.85]) and no significant increased risk of invasive melanoma (SIR=1.15 [0.82;1.61]). Results were similar for anti-TNF-treated patients. Other biologics were not analyzed separately due to small sample sizes.The overall risk of malignancies and risk of lymphoma did not differ between anti-TNF and other biologics (analysed all together), or abatacept. Within the anti-TNF class, the overall risk of malignancies and risk of lymphoma did not differ between etanercept and monoclonal anti-TNF (table).Type of malignanciesHR [95% CI]p-valueHR [95% CI]p-valueHR [95% CI]p-valueAnti-TNF (ref) vs. other biologicsAnti-TNF (ref) vs. AbataceptMonoclonal anti-TNF (ref) vs. EtanerceptP-Y exposure83256 vs. 2564991770 vs. 468149620 vs. 36790All malignancies (excl. non-melanoma skin cancer)0.97 [0.81;1.17]p=0.71.27 [0.89;1.81]p=0.21.11 [0.94;1.32]p=0.2Solid cancer (excl. non-melanoma skin cancer)0.98 [0.80;1.20]p=0.81.23 [0.84;1.82]p=0.41.10 [0.92;1.32]p=0.3Lymphoma0.69 [0.32;1.46]p=0.31.73 [0.55;5.48]p=0.50.87 [0.49;1.57]p=0.7Conclusion:Using a large nationwide healthcare database, representative of the French population, the overall risk of malignancies did not seem to differ across the different classes of biologic. Among anti-TNF, the risk of malignancies of lymphoma did not differ between etanercept and monoclonal antibodies. The risk of organ specific cancers, except lung cancer, did not differ from that of general population.Disclosure of Interests:Raphaèle Seror Consultant of: BMS, Medimmune, Novartis, Pfizer, GSK, Lilly, Bruno Fautrel Grant/research support from: AbbVie, Lilly, MSD, Pfizer, Consultant of: AbbVie, Biogen, BMS, Boehringer Ingelheim, Celgene, Lilly, Janssen, Medac MSD France, Nordic Pharma, Novartis, Pfizer, Roche, Sanofi Aventis, SOBI and UCB, Alexandre Lafourcade: None declared, yann de-rycke: None declared, Xavier Mariette Consultant of: BMS, Gilead, Medimmune, Novartis, Pfizer, Servier, UCB, Florence Tubach Grant/research support from: Florence TUBACH is head of the Centre de Pharmacoépidémiologie (Cephepi) of the Assistance Publique – Hôpitaux de Paris and of the Clinical Research Unit of Pitié-Salpêtrière hospital, both these structures have received research funding, grants and fees for consultant activities from a large number of pharmaceutical companies, that have contributed indiscriminately to the salaries of its employees. Florence Tubach didn’t receive any personal remuneration from these companies.

APA, Harvard, Vancouver, ISO, and other styles

34

Romero-Garmendia, Irati, and Koldo Garcia-Etxebarria. "Host Genetics and Microbiota Interactions in Colorectal Cancer: Shared or Independent Risk?" Microorganisms 10, no. 11 (October 27, 2022): 2129. http://dx.doi.org/10.3390/microorganisms10112129.

Full text

Abstract:

The role of microbiota in colorectal cancer has been studied since alterations in its composition were observed. In addition, there are more and more pieces of evidence that microbiota could be implicated in colorectal cancer progression. Thus, the components of the microbiota could be biomarkers for the diagnosis and prognosis of colorectal cancer. In addition, it is important to address how the microbiota interacts with the host and how the host shapes the microbiota, in order to understand the biological pathways and mechanisms involved in their relationship and the consequences of their interactions in colorectal cancer. Thereby, it could be possible to find feasible measures and treatments to prevent or better diagnose colorectal cancer. In this review, we will try to summarize the role of the microbiota in colorectal cancer and its interactions with the host and the host genetics, coming to some conclusions that could be useful to find the gaps in our knowledge and propose future steps in this field.

APA, Harvard, Vancouver, ISO, and other styles

35

Barber, J. C. K. "Medical genetics: advances in brief: Inactivation of the type II TGF- receptor in colon cancer cells with microsatellite instability." Journal of Medical Genetics 32, no. 10 (October 1, 1995): 835. http://dx.doi.org/10.1136/jmg.32.10.835-c.

Full text

APA, Harvard, Vancouver, ISO, and other styles

36

Rubinstein, Wendy S. "Roles and responsibilities of a medical geneticist." Familial Cancer 7, no. 1 (July 12, 2007): 5–14. http://dx.doi.org/10.1007/s10689-007-9148-6.

Full text

APA, Harvard, Vancouver, ISO, and other styles

37

Hansel, Donna E., and Brian I. Rini. "Molecular genetics of hereditary renal cancer: new genes and diagnostic and therapeutic opportunities." Expert Review of Anticancer Therapy 8, no. 6 (June 2008): 895–905. http://dx.doi.org/10.1586/14737140.8.6.895.

Full text

APA, Harvard, Vancouver, ISO, and other styles

38

Gray, J. "Medical genetics: advances in brief: Relationship between lifetime ovulatory cycles and over-expression of mutant P53 in epithelial ovarian cancer." Journal of Medical Genetics 35, no. 1 (January 1, 1998): 81. http://dx.doi.org/10.1136/jmg.35.1.81-a.

Full text

APA, Harvard, Vancouver, ISO, and other styles

39

Shah, Payal Deepak, Heather Symecko, Melissa Batson, Stacy Pundock, Neil Rustgi, Ashley Ford Haggerty, Emily Meichun Ko, Lainie P. Martin, Katherine Nathanson, and Susan M. Domchek. "EMR documentation of genetics evaluations in patients with ovarian cancer." Journal of Clinical Oncology 37, no. 15_suppl (May 20, 2019): e13156-e13156. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e13156.

Full text

Abstract:

e13156 Background: Genetic testing for hereditary cancer predisposition has become increasingly complex yet impactful. Provider knowledge of test results influences risk management, implications for family members, and therapeutics. Currently, it’s unknown if genetic test (GT) results are appropriately recorded and accessible within the electronic medical record (EMR). Methods: We conducted a single-institution retrospective chart review to examine clinical diagnoses, family history of cancer, genetics referrals, and genetics services received at University of Pennsylvania’s Cancer Risk Evaluation Program (CREP) or elsewhere. The study cohort included new and prevalent cases of ovarian cancer (OC) seen by either a gynecologic or medical oncologist at the University of Pennsylvania in 2016. Analyses were conducted using SAS 9.4. Results: 667 women (83% white, 9% black, 4% Asian; mean age 61) with OC were included. 58% had a documented family history of breast, ovarian, prostate or pancreas cancer. 48% had documentation of referral to genetic testing and an additional 26% had documentation of testing outside of CREP. 26% had no documentation of referral or testing. Of those referred to CREP, 75% had genetic testing: in total 62% of the cohort had documented testing. 94% of those tested had a result documented in a provider note, and 64% had a scanned testing report uploaded into the EMR, including 74.3% of those tested through CREP and 25.7% of those tested outside. Among the 118 pathogenic mutations, 70% were documented on the EMR “problem list.” Conclusions: In this study, most, though not all, OC patients had documentation of a GT referral or testing in the EMR. Although GT results were routinely included in progress notes, these reports were less commonly scanned into the EMR (particularly for those tested outside Penn) or included in the EMR “problem list” which is both searchable and immediately visible. Capturing genetic data in a uniform and easily accessible manner within the EMR is necessary to maximize clinical utility of this information and should be a focus for EMR module development.

APA, Harvard, Vancouver, ISO, and other styles

40

Morgan, Robert D., George J. Burghel, Nicola Flaum, Michael Bulman, Andrew R. Clamp, Jurjees Hasan, Claire L. Mitchell, et al. "Prevalence of germline pathogenic BRCA1/2 variants in sequential epithelial ovarian cancer cases." Journal of Medical Genetics 56, no. 5 (January 25, 2019): 301–7. http://dx.doi.org/10.1136/jmedgenet-2018-105792.

Full text

Abstract:

IntroductionPoly(ADP-ribose) polymerase inhibitors significantly improve progression-free survival in platinum-sensitive high-grade serous and endometrioid ovarian carcinoma, with greatest benefits observed in women with a pathogenic BRCA1/2 variant. Consequently, the demand for germline BRCA1/2 testing in ovarian cancer has increased substantially, leading to the screening of unselected populations of patients. We aimed to determine the prevalence of pathogenic germline BRCA1/2 variants in women diagnosed with epithelial ovarian cancer, categorised according to the established risk factors for hereditary breast and ovarian cancer syndrome and the Manchester BRCA Score, to inform risk stratification.MethodsA cohort of sequential epithelial ovarian cancer cases recruited between June 2013 and September 2018 underwent germline BRCA1/2 testing by next-generation sequencing and multiplex ligation-dependent probe amplification.ResultsFive hundred and fifty-seven patients were screened. Of these, 18% had inherited a pathogenic BRCA1/2 variant. The prevalence of pathogenic BRCA1/2 variants was >10% in women diagnosed with ovarian cancer earlier than 60 years of age (21%) and those diagnosed later than 60 years of age with a family history of breast and/or ovarian cancer (17%) or a medical history of breast cancer (34%). The prevalence of pathogenic BRCA1/2 variants was also >10% in women with a Manchester BRCA Score of ≥15 points (14%).DiscussionOur study suggests that age at diagnosis, family history of breast and/or ovarian cancer, medical history of breast cancer or a Manchester BRCA Score of ≥15 points are associated with a >10% prevalence of germline pathogenic BRCA1/2 variants in epithelial ovarian cancer.

APA, Harvard, Vancouver, ISO, and other styles

41

Byun, Soo-Hwan, Chanyang Min, Hyo-Geun Choi, and Seok-Jin Hong. "Association between Family Histories of Thyroid Cancer and Thyroid Cancer Incidence: A Cross-Sectional Study Using the Korean Genome and Epidemiology Study Data." Genes 11, no. 9 (September 3, 2020): 1039. http://dx.doi.org/10.3390/genes11091039.

Full text

Abstract:

This study assessed the association between thyroid cancer and family history. This cross-sectional study used epidemiological data from the Korean Genome and Epidemiology Study from 2001 to 2013. Among 211,708 participants, 988 were in the thyroid cancer group and 199,588 were in the control group. Trained interviewers questioned the participants to obtain their thyroid cancer history and age at onset. The participants were examined according to their age, sex, monthly household income, obesity, smoking, alcohol consumption, and past medical history. The adjusted odds ratios (95% confidence intervals) for the family histories of fathers, mothers, and siblings were 6.59 (2.05–21.21), 4.76 (2.59–8.74), and 9.53 (6.92–13.11), respectively, and were significant. The results for the subgroup analyses according to sex were consistent. The rate of family histories of thyroid cancer for fathers and siblings were not different according to the thyroid cancer onset, while that of mothers were higher in participants with a younger age at onset (<50 years old group, 11/523 [2.1%], p = 0.007). This study demonstrated that thyroid cancer incidence was associated with thyroid cancer family history. This supports regular examination of individuals with a family history of thyroid cancer to prevent disease progression and ensure early management.

APA, Harvard, Vancouver, ISO, and other styles

42

Gewin, Virginia. "Pier Paolo Pandolfi, Director, Cancer Genetics Programme, Beth Israel Deaconess Medical Center, Harvard University." Nature 447, no. 7141 (May 2007): 228. http://dx.doi.org/10.1038/nj7141-228a.

Full text

APA, Harvard, Vancouver, ISO, and other styles

43

Barbagallo, Cristina, Michele Stella, Giuseppe Broggi, Andrea Russo, Rosario Caltabiano, and Marco Ragusa. "Genetics and RNA Regulation of Uveal Melanoma." Cancers 15, no. 3 (January 26, 2023): 775. http://dx.doi.org/10.3390/cancers15030775.

Full text

Abstract:

Uveal melanoma (UM) is the most common intraocular malignant tumor and the most frequent melanoma not affecting the skin. While the rate of UM occurrence is relatively low, about 50% of patients develop metastasis, primarily to the liver, with lethal outcome despite medical treatment. Notwithstanding that UM etiopathogenesis is still under investigation, a set of known mutations and chromosomal aberrations are associated with its pathogenesis and have a relevant prognostic value. The most frequently mutated genes are BAP1, EIF1AX, GNA11, GNAQ, and SF3B1, with mutually exclusive mutations occurring in GNAQ and GNA11, and almost mutually exclusive ones in BAP1 and SF3B1, and BAP1 and EIF1AX. Among chromosomal aberrations, monosomy of chromosome 3 is the most frequent, followed by gain of chromosome 8q, and full or partial loss of chromosomes 1 and 6. In addition, epigenetic mechanisms regulated by non-coding RNAs (ncRNA), namely microRNAs and long non-coding RNAs, have also been investigated. Several papers investigating the role of ncRNAs in UM have reported that their dysregulated expression affects cancer-related processes in both in vitro and in vivo models. This review will summarize current findings about genetic mutations, chromosomal aberrations, and ncRNA dysregulation establishing UM biology.

APA, Harvard, Vancouver, ISO, and other styles

44

Flinter, F. "Medical genetics: advances in brief: Estimates of the gene frequency of BRCA1 and its contribution to breast and ovarian cancer incidence." Journal of Medical Genetics 33, no. 3 (March 1, 1996): 260. http://dx.doi.org/10.1136/jmg.33.3.260-b.

Full text

APA, Harvard, Vancouver, ISO, and other styles

45

Brankovic-Magic, Mirjana, Jelena Dobricic, and Ana Krivokuca. "Genetics of breast cancer: Contribution of BRCA1/2 genes alterations to hereditary predisposition." Vojnosanitetski pregled 69, no. 8 (2012): 700–706. http://dx.doi.org/10.2298/vsp110421014b.

Full text

APA, Harvard, Vancouver, ISO, and other styles

46

Rajalekshmi, Maheshwari, Chandrashekhara Shastri Shreedhara, Richard Lobo, and Polu Picheshwara Rao. "The Review on Genetics, Epigenetics, Risk Factors and Diagnosis of Colon Cancer." Research Journal of Pharmacy and Technology 11, no. 11 (2018): 5147. http://dx.doi.org/10.5958/0974-360x.2018.00940.x.

Full text

APA, Harvard, Vancouver, ISO, and other styles

47

Grijalva-Chon, JoséManuel, Alejandro Varela-Romero, JorgeAlfonso Arvayo-Zatarain, and Reina Castro-Longoria. "G-C heterozygosis in mutS homolog2 as a risk factor to hereditary nonpolyposis colon cancer in the absence of a family medical history." Indian Journal of Human Genetics 17, no. 2 (2011): 90. http://dx.doi.org/10.4103/0971-6866.86191.

Full text

APA, Harvard, Vancouver, ISO, and other styles

48

Sun, Yandi, Jingjia Li, Zihao Qu, Ze Yang, Xueyao Jia, Yindan Lin, Qian He, Lihong Zhang, and Yan Luo. "Causal Associations between Serum Urea and Cancer: A Mendelian Randomization Study." Genes 12, no. 4 (March 29, 2021): 498. http://dx.doi.org/10.3390/genes12040498.

Full text

Abstract:

Urea is largely derived from the urea cycle reactions through hepatic detoxification of free ammonia and cleared by urination, and the serum urea level is a crucial medical indicator for measuring the kidney function in patients with nephropathy; however, investigative revelations pointing to the serum urea level as a risk factor for cancer are very scarce, and relevant studies are restricted by potential biases. We aimed to explore the causal relationships of the serum urea level with cancer development by focusing on renal cell carcinoma (RCC) using the Mendelian randomization (MR) analyses. Summary estimates were collected from the inverse-variance weighted (IVW) method based on six single nucleotide polymorphisms (SNPs). The selected SNPs related to the serum urea were obtained from a large genome-wide association study (GWAS) of 13,312 European participants. The summary statistics of RCC were also available from public databases (IARC, n = 5219 cases, n = 8011 controls). Sensitivity analyses included the weighted median and MR-Egger methods. Serum urea was inversely associated with RCC in females (effect = 1.93; 95% CI: 1.24 to 3.01; p = 0.004) but exhibited null association with RCC in males, breast cancer (BRCA) in both genders and prostate cancer (PCa) in males. Similar conclusions were also drawn from the weighted median and MR-Egger. These findings reveal an intriguing link between serum urea and cancer risks for the very first time. Without ambiguity, the serum urea is causatively related to RCC specifically in females, although the mechanism(s) by which urea is involved in RCC development remains to be experimentally/clinically investigated. Our studies may well provide novel insights for RCC diagnosis, intervention and/or therapy.

APA, Harvard, Vancouver, ISO, and other styles

49

Royer-Bertrand, Beryl, and Carlo Rivolta. "Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer." Cellular and Molecular Life Sciences 72, no. 8 (December 30, 2014): 1463–71. http://dx.doi.org/10.1007/s00018-014-1807-9.

Full text

APA, Harvard, Vancouver, ISO, and other styles

50

Miedzybrodzka, Z., N. M. Hamilton, H. Gregory, B. Milner, I. Frade, T. Sinclair, J. Mollison, and N. Haites. "Teaching Breast Cancer Genetics to Medical Students: Evaluation of a Computer Assister Learning (CAL) Package." Disease Markers 15, no. 1-3 (1999): 157. http://dx.doi.org/10.1155/1999/721958.

Full text

APA, Harvard, Vancouver, ISO, and other styles

We offer discounts on all premium plans for authors whose works are included in thematic literature selections. Contact us to get a unique promo code!