keyword
MENU ▼
Read by QxMD icon Read
search

Genetic predisposition to cancer

keyword
https://www.readbyqxmd.com/read/29470392/gja4-connexin-37-mutations-correlate-with-secondary-lymphedema-following-surgery-in-breast-cancer-patients
#1
Mahrooyeh Hadizadeh, Seiied Mojtaba Mohaddes Ardebili, Mansoor Salehi, Chris Young, Fariborz Mokarian, James McClellan, Qin Xu, Mohammad Kazemi, Elham Moazam, Behzad Mahaki, Maziar Ashrafian Bonab
Lymphedema is a condition resulting from mutations in various genes essential for lymphatic development and function, which leads to obstruction of the lymphatic system. Secondary lymphedema is a progressive and incurable condition, most often manifesting after surgery for breast cancer. Although its causation appears complex, various lines of evidence indicate that genetic predisposition may play a role. Previous studies show that mutations in connexin 47 are associated with secondary lymphedema. We have tested the hypothesis that connexin 37 gene mutations in humans are associated with secondary lymphedema following breast cancer surgery...
February 22, 2018: Biomedicines
https://www.readbyqxmd.com/read/29466349/-it-s-like-we-don-t-exist-tailoring-education-for-young-women-undergoing-surgery-for-early-stage-breast-cancer
#2
Alejandra Recio-Saucedo, Anthony W Gilbert, Sue Gerty, Ramsey I Cutress, Diana Eccles, Claire Foster
PURPOSE: The implications of a diagnosis and consequent surgical treatment for breast cancer may be different for young women compared to older women. This study investigated the information requirements of young women to support their treatment decision making at diagnosis.
. PARTICIPANTS & SETTING: A purposeful sample of 20 women diagnosed with breast cancer aged 40 years or younger who had undergone surgery and had participated in a large cohort study in the United Kingdom...
March 1, 2018: Oncology Nursing Forum
https://www.readbyqxmd.com/read/29464093/impact-of-lmp7-rs2071543-gene-polymorphism-in-increasing-cancer-risk-evidence-from-a-meta-analysis-and-trial-sequential-analysis
#3
Raju K Mandal, Sajad A Dar, Arshad Jawed, Mohd Wahid, Mohtashim Lohani, Aditya K Panda, Bhartendu N Mishra, Naseem Akhter, Mohammed Y Areeshi, Shafiul Haque
Genetic variant LMP7 (low molecular weight polypeptide 7) -145 C > A may influence the function of immune surveillance of an individual and lead to cancer development. Various studies have investigated the relevance of LMP7 -145 C > A gene polymorphism with cancer risk; but, their results are conflicting and inconsistent. To obtain a comprehensive conclusion, a meta-analysis was performed by including eight eligible published studies retrieved from PubMed (Medline), EMBASE and Google Scholar web search until December 2016...
January 19, 2018: Oncotarget
https://www.readbyqxmd.com/read/29455641/circadian-pathway-genetic-variation-and-cancer-risk-evidence-from-genome-wide-association-studies
#4
Simone Mocellin, Saveria Tropea, Clara Benna, Carlo Riccardo Rossi
BACKGROUND: Dysfunction of the circadian clock and single polymorphisms of some circadian genes have been linked to cancer susceptibility, although data are scarce and findings inconsistent. We aimed to investigate the association between circadian pathway genetic variation and risk of developing common cancers based on the findings of genome-wide association studies (GWASs). METHODS: Single nucleotide polymorphisms (SNPs) of 17 circadian genes reported by three GWAS meta-analyses dedicated to breast (Discovery, Biology, and Risk of Inherited Variants in Breast Cancer (DRIVE) Consortium; cases, n = 15,748; controls, n = 18,084), prostate (Elucidating Loci Involved in Prostate Cancer Susceptibility (ELLIPSE) Consortium; cases, n = 14,160; controls, n = 12,724) and lung carcinoma (Transdisciplinary Research In Cancer of the Lung (TRICL) Consortium; cases, n = 12,160; controls, n = 16,838) in patients of European ancestry were utilized to perform pathway analysis by means of the adaptive rank truncated product (ARTP) method...
February 19, 2018: BMC Medicine
https://www.readbyqxmd.com/read/29452120/quantifying-the-polygenic-contribution-to-cutaneous-squamous-cell-carcinoma-risk
#5
Joanne E Sordillo, Peter Kraft, Ann Chen Wu, Maryam M Asgari
Genetic factors play an important role in cutaneous squamous cell carcinoma (cSCC) risk. Genome-wide association studies have identified 21 single nucleotide polymorphisms (SNPs) associated with cSCC risk. Yet no studies have attempted to quantify the contribution of heritability to cSCC risk by calculating the population attributable risk (PAR) using a combination of all discovered genetic variants. Using an additive multi-locus linear logistic model, we determined the cumulative association of these 21 genetic regions to cSCC PAR...
February 13, 2018: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29450669/association-of-tert-clptm1l-and-8q24-common-genetic-variants-with-gallbladder-cancer-susceptibility-and-prognosis-in-north-indian-population
#6
Saurabh Yadav, Abhijit Chandra, Ashok Kumar, Balraj Mittal
Gallbladder carcinoma (GBC) is one of the common malignancy of the biliary tract. Several genome wide and candidate gene studies have reported associations between multiple cancer types and single-nucleotide polymorphisms on 5p15.33 and 8q24.21 loci. However, predisposition potential of these genetic variants has not been assessed in GBC. We performed the present study to assess the potential of five polymorphisms on 5p15.33 and one on 8q24.21 locus in GBC risk and treatment response in patients undergoing chemoradiotherapy...
February 15, 2018: Biochemical Genetics
https://www.readbyqxmd.com/read/29436707/the-molecular-pathology-of-cancer-from-pan-genomics-to-post-genomics
#7
REVIEW
David G Huntsman, Marc Ladanyi
As the cancer genomics of most major cancer types have been comprehensively catalogued over the past decade through a variety of national and international efforts, the delineation of cancer subtypes has been refined, and our understanding of critical cancer drivers and of the potentially targetable vulnerabilities they create has grown tremendously. The 2018 Annual Review Issue of The Journal of Pathology provides in-depth assessments of how these pan-genomic approaches have enabled advances in cancer classification, targeted therapy selection, and assessment of cancer progression, all of which are now genomically informed, using several cancer types as examples...
February 13, 2018: Journal of Pathology
https://www.readbyqxmd.com/read/29433971/large-scale-sequencing-of-testicular-germ-cell-tumour-tgct-cases-excludes-major-tgct-predisposition-gene
#8
Kevin Litchfield, Chey Loveday, Max Levy, Darshna Dudakia, Elizabeth Rapley, Jeremie Nsengimana, D Tim Bishop, Alison Reid, Robert Huddart, Peter Broderick, Richard S Houlston, Clare Turnbull
Testicular germ cell tumour (TGCT), the most common cancer in young men, has a significant heritable basis that has long raised questions as to the existence of underlying major high-penetrance susceptibility gene(s). To determine the contribution of rare gene mutations to the inherited risk of TGCT, we analysed germline whole-exome data for 919 TGCT cases and 1609 cancer-free controls. We compared frequencies between TGCT cases and controls of rare (<1%) and low-frequency (1-5%) coding variants (1) individually and (2) collapsed at the gene level via burden testing (T1, disruptive; T2, all deleterious; and T3, all nonsynonymous) using Fisher's exact test with Bonferroni correction of significance thresholds...
February 9, 2018: European Urology
https://www.readbyqxmd.com/read/29426838/gene-specific-genetic-complementation-between-brca1-and-cobra1-during-mouse-mammary-gland-development
#9
Huai-Chin Chiang, Xiaowen Zhang, Xiayan Zhao, Chi Zhang, Jerry Chen, Paula Garza, Sabrina Smith, Thomas Ludwig, Richard J Baer, Rong Li, Yanfen Hu
Germ-line mutations in breast cancer susceptibility gene, BRCA1, result in familial predisposition to breast and ovarian cancers. The BRCA1 protein has multiple functional domains that interact with a variety of proteins in multiple cellular processes. Understanding the biological consequences of BRCA1 interactions with its binding partners is important for elucidating its tissue-specific tumor suppression function. The Cofactor of BRCA1 (COBRA1) is a BRCA1-binding protein that, as a component of negative elongation factor (NELF), regulates RNA polymerase II pausing during transcription elongation...
February 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29424105/low-penetrance-genetic-polymorphisms-as-potential-biomarkers-for-colorectal-cancer-predisposition
#10
REVIEW
Shing Cheng Tan
AIMS: Colorectal cancer is a leading form of cancer in both males and females. Early detection of individuals at risk of colorectal cancer allows proper treatment and management of the disease to be implemented, which can potentially reduce the burden of colorectal cancer incidence, morbidity and mortality. In recent years, the role of genetic susceptibility factors in mediating predisposition to colorectal cancer has become more and more apparent. This review comprehensively consolidates the recent progresses in the identification of high-frequency, low-penetrance genetic polymorphisms associated with colorectal cancer...
February 8, 2018: Journal of Gene Medicine
https://www.readbyqxmd.com/read/29422015/is-rnasel-p-glu265-a-modifier-of-early-onset-breast-cancer-risk-for-carriers-of-high-risk-mutations
#11
Tú Nguyen-Dumont, Zhi L Teo, Fleur Hammet, Alexis Roberge, Maryam Mahmoodi, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Andrew Lonie, Miroslav K Kapuscinski, Khalid Mahmood, David E Goldgar, Graham G Giles, Ingrid Winship, John L Hopper, Melissa C Southey
BACKGROUND: Breast cancer risk for BRCA1 and BRCA2 pathogenic mutation carriers is modified by risk factors that cluster in families, including genetic modifiers of risk. We considered genetic modifiers of risk for carriers of high-risk mutations in other breast cancer susceptibility genes. METHODS: In a family known to carry the high-risk mutation PALB2:c.3113G>A (p.Trp1038*), whole-exome sequencing was performed on germline DNA from four affected women, three of whom were mutation carriers...
February 8, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29417838/lung-cancer-a-brief-review-of-epidemiology-and-screening
#12
Cláudia Gouvinhas, Ramon Andrade De Mello, Daniela Oliveira, José Manuel Castro-Lopes, Pedro Castelo-Branco, Ricardo Sales Dos Santos, Venceslau Hespanhol, Daniel Humberto Pozza
The global burden of lung cancer has been increasing over the past years, and is still a major threat to public health worldwide, leading to disabilities and premature mortality. Despite multifactorial cause, smoking remains as the major etiological factor, followed by occupational exposure to carcinogens, genetic predisposition and other concomitant diseases. In order to reduce the individual and social burden due to the direct and indirect costs related to the lung cancer treatment, accurate methods of screening are needed...
February 8, 2018: Future Oncology
https://www.readbyqxmd.com/read/29413755/association-of-agtr1-a1166c-and-ace-i-d-polymorphisms-with-breast-cancer-risk-in-north-indian-population
#13
Anukriti Singh, Nidhi Srivastava, Sonal Amit, S N Prasad, M P Misra, Bushra Ateeq
Renin angiotensin system (RAS) comprising Angiotensin converting enzyme (ACE), Angiotensin II (Ang II) and its receptor Angiotensin II receptor type I (AGTR1), plays a critical role in several diseases including cancer. A single nucleotide polymorphism (SNP) A1166C located in 3' untranslated region (UTR) of AGTR1 and an insertion/deletion (I/D) polymorphism present in intron 16 of ACE gene have been associated with many diseases, but their association with Breast cancer (BCa) is still debatable. Here, we for the first time investigated the association of these polymorphisms in a North Indian BCa cohort including 161 patients and 152 healthy women...
January 30, 2018: Translational Oncology
https://www.readbyqxmd.com/read/29412865/interactive-potential-of-genetic-polymorphism-in-xenobiotic-metabolising-and-dna-repair-genes-for-predicting-lung-cancer-predisposition-and-overall-survival-in-north-indians
#14
Apurva Bhardwaj, Charu Bahl, Siddharth Sharma, Navneet Singh, Digamber Behera
INTRODUCTION: Cancer, a multi-step, multifactorial and multi-gene disease, not only damages the genomic integrity of the cell but also hinders the DNA repair mechanisms of the body. Gene-gene and gene environment interactions amongst the genetic polymorphisms together modulate the susceptibility towards a cancer. We have studied the high order gene interactions between the genetic polymorphism of detoxifying genes (CYP1A1, Ahr, XRCC and GST1) that play a key role in the metabolism of the xenobiotics and have been proved to be prognostic markers for lung cancer METHODS: 237 cases and 250 controls have been genotyped using PCR-RFLP technique...
February 2018: Mutation Research
https://www.readbyqxmd.com/read/29404823/-second-class-status-insight-into-communication-patterns-and-common-concerns-among-men-with-hereditary-breast-and-ovarian-cancer-syndrome
#15
Alexandra Suttman, Robert Pilarski, Doreen M Agnese, Leigha Senter
Hereditary breast and ovarian cancer syndrome (HBOC) is a cancer predisposition syndrome that affects both men and women, with more significant cancer risk elevations in women. Dissemination patterns regarding familial genetic risk information among females with HBOC are fairly well defined, but knowledge about how males share this information is limited. We interviewed 21 people primarily Ashkenazi Jewish men who were accrued via listserv email through Facing Our Risk of Cancer Empowered (FORCE). Interviews focused on family cancer history, experiences with cancer and genetic testing, motivations to pursue genetic testing and subsequently disclose genetic test results, information-sharing patterns, health care provider response, and participants' emotional support systems...
February 5, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29404275/oncogenic-viruses-and-breast-cancer-mouse-mammary-tumor-virus-mmtv-bovine-leukemia-virus-blv-human-papilloma-virus-hpv-and-epstein-barr-virus-ebv
#16
REVIEW
James S Lawson, Brian Salmons, Wendy K Glenn
Background: Although the risk factors for breast cancer are well established, namely female gender, early menarche and late menopause plus the protective influence of early pregnancy, the underlying causes of breast cancer remain unknown. The development of substantial recent evidence indicates that a handful of viruses may have a role in breast cancer. These viruses are mouse mammary tumor virus (MMTV), bovine leukemia virus (BLV), human papilloma viruses (HPVs), and Epstein-Barr virus (EBV-also known as human herpes virus type 4)...
2018: Frontiers in Oncology
https://www.readbyqxmd.com/read/29400022/screening-for-lynch-syndrome-using-risk-assessment-criteria-in-patients-with-ovarian-cancer
#17
Takashi Takeda, Kosuke Tsuji, Kouji Banno, Megumi Yanokura, Yusuke Kobayashi, Eiichiro Tominaga, Daisuke Aoki
OBJECTIVE: Lynch syndrome is a cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes. Lynch syndrome only causes about 0.4% of cases of ovarian cancer, which suggests that universal screening may not be cost-efficient. However, the frequency of Lynch syndrome in ovarian cancer is unclear in the Asian population. The goal of the study was to investigate a screening strategy using family history. METHODS: The subjects were 129 patients with ovarian cancer...
January 30, 2018: Journal of Gynecologic Oncology
https://www.readbyqxmd.com/read/29376519/fanconi-anaemia-and-cancer-an-intricate-relationship
#18
REVIEW
Grzegorz Nalepa, D Wade Clapp
Fanconi anaemia (FA) is a genetic disorder that is characterized by bone marrow failure (BMF), developmental abnormalities and predisposition to cancer. Together with other proteins involved in DNA repair processes and cell division, the FA proteins maintain genome homeostasis, and germline mutation of any one of the genes that encode FA proteins causes FA. Monoallelic inactivation of some FA genes, such as FA complementation group D1 (FANCD1; also known as the breast and ovarian cancer susceptibility gene BRCA2), leads to adult-onset cancer predisposition but does not cause FA, and somatic mutations in FA genes occur in cancers in the general population...
January 29, 2018: Nature Reviews. Cancer
https://www.readbyqxmd.com/read/29373116/uncommon-hereditary-gynaecological-tumour-syndromes-pathological-features-in-tumours-that-may-predict-risk-for-a-germline-mutation
#19
REVIEW
Karuna Garg, Anthony N Karnezis, Joseph T Rabban
The most common hereditary gynaecological tumour syndromes are hereditary breast and ovarian cancer syndrome and Lynch syndrome. However, pathologists also may encounter gynaecological tumours in women with rare hereditary syndromes. Many of these tumours exhibit distinctive gross and microscopic features that are associated with a risk for an inherited gene mutation. The sensitivity and specificity of these tumour pathology features for predicting an inherited mutation vary depending on the syndrome. By recognising these tumour features, pathologists may potentially contribute to the diagnosis of an unsuspected syndrome by recommending referral of the patient for formal risk assessment by genetic counselling...
January 17, 2018: Pathology
https://www.readbyqxmd.com/read/29372364/reproductive-decision-support-preferences-and-needs-of-couples-at-risk-for-hereditary-cancer-and-clinical-geneticists
#20
Kelly Reumkens, A J G van Oudheusden, J J G Gietel-Habets, M H E Tummers, C E M de Die-Smulders, L A D M van Osch
For couples at high risk of transmitting a cancer predisposition to offspring, reproductive decision-making can be challenging. As the choice between available reproductive options is preference-sensitive, the use of a decision aid can support these couples in their decisional process. The present study aims to investigate preferences and needs of involved stakeholders regarding the development and implementation of a patient decision aid. Semi-structured interviews assessing the needs and preferences regarding the content and functionalities of a decision support program were conducted among seven couples at risk for hereditary cancer and among eight clinical geneticists involved in oncogenetic counseling...
January 25, 2018: Journal of Genetic Counseling
keyword
keyword
24044
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"