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Genetic predisposition to cancer

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https://www.readbyqxmd.com/read/28346228/somatic-mutations-and-progressive-monosomy-modify-samd9-related-phenotypes-in-humans
#1
Federica Buonocore, Peter Kühnen, Jenifer P Suntharalingham, Ignacio Del Valle, Martin Digweed, Harald Stachelscheid, Noushafarin Khajavi, Mohammed Didi, Angela F Brady, Oliver Blankenstein, Annie M Procter, Paul Dimitri, Jerry K H Wales, Paolo Ghirri, Dieter Knöbl, Brigitte Strahm, Miriam Erlacher, Marcin W Wlodarski, Wei Chen, George K Kokai, Glenn Anderson, Deborah Morrogh, Dale A Moulding, Shane A McKee, Charlotte M Niemeyer, Annette Grüters, John C Achermann
It is well established that somatic genomic changes can influence phenotypes in cancer, but the role of adaptive changes in developmental disorders is less well understood. Here we have used next-generation sequencing approaches to identify de novo heterozygous mutations in sterile α motif domain-containing protein 9 (SAMD9, located on chromosome 7q21.2) in 8 children with a multisystem disorder termed MIRAGE syndrome that is characterized by intrauterine growth restriction (IUGR) with gonadal, adrenal, and bone marrow failure, predisposition to infections, and high mortality...
March 27, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28343944/rack1-cooperates-with-nras-q61k-to-promote-melanoma-in-vivo
#2
C Campagne, E Reyes-Gomez, M E Picco, S Loiodice, P Salaun, J Ezagal, F Bernex, P H Commère, S Pons, D Esquerre, E Bourneuf, J Estellé, U Maskos, P Lopez-Bergami, G Aubin-Houzelstein, J J Panthier, G Egidy
Melanoma is the deadliest skin cancer. RACK1 (Receptor for activated protein kinase C) protein was proposed as a biological marker of melanoma in human and domestic animal species harboring spontaneous melanomas. As a scaffold protein, RACK1 is able to coordinate the interaction of key signaling molecules implicated in both physiological cellular functions and tumorigenesis. A role for RACK1 in rewiring ERK and JNK signaling pathways in melanoma cell lines had been proposed. Here, we used a genetic approach to test this hypothesis in vivo in the mouse...
March 23, 2017: Cellular Signalling
https://www.readbyqxmd.com/read/28338660/germline-and-somatic-genetics-of-osteosarcoma-connecting-aetiology-biology-and-therapy
#3
REVIEW
D Matthew Gianferante, Lisa Mirabello, Sharon A Savage
Clinical outcomes and treatment modalities for osteosarcoma, the most common primary cancer of bone, have changed very little over the past 30 years. The peak incidence of osteosarcoma occurs during the adolescent growth spurt, which suggests that bone growth and pubertal hormones are important in the aetiology of the disease. Tall stature, high birth weight and certain inherited cancer predisposition syndromes are well-described risk factors for osteosarcoma. Common genetic variants are also associated with osteosarcoma...
March 24, 2017: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/28320750/metabolic-mediators-of-the-effects-of-family-history-and-genetic-risk-score-on-coronary-heart-disease-findings-from-the-malm%C3%A3-diet-and-cancer-study
#4
Josef Fritz, Dov Shiffman, Olle Melander, Hayato Tada, Hanno Ulmer
BACKGROUND: Family history of coronary heart disease (CHD) as well as genetic predisposition to CHD assessed by a genetic risk score (GRS) are predictors of CHD risk. It is, however, uncertain to what extent these risk predictors are mediated by major metabolic pathways. METHODS AND RESULTS: Total effects of self-reported family history and a 50-variant GRS (GRS50), as well as effects mediated by apolipoprotein B and A-I (apoB, apoA-I), blood pressure, and diabetes mellitus, on incidence of CHD were estimated in 23 595 participants of the Malmö Diet and Cancer study (a prospective, population-based study)...
March 20, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28315974/inherited-dna-repair-gene-mutations-detected-by-tumor-next-generation-sequencing-in-urinary-tract-cancers
#5
Sumati Gupta, Samantha Greenberg, Jade Grimmett, David Gaston, Neeraj Agarwal, William Lowrance, Joshua Schiffman, Wendy Kohlmann
Interpretation of next-generation sequencing (NGS) of tumor tissue in patients with advanced Urinary Tract Cancer (UTC) is performed to guide treatment selection but may reveal pathogenic variants with germline implications. We identified three patients with UTC with unexpected germline DNA repair gene mutations. Specific testing for these was prompted by the detection of these mutations by tumor NGS. All three patients were nonsmokers with a strong family history of cancer. Two patients had upper tract UTC with age at diagnosis in the 40 s...
March 18, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28306219/characterization-of-a-novel-pold1-missense-founder-mutation-in-a-spanish-population
#6
Rosario Ferrer-Avargues, Virginia Díez-Obrero, Ester Martín-Tomás, Eva Hernández-Illán, María-Isabel Castillejo, Alan Codoñer-Alejos, Víctor-Manuel Barberá, Ana-Beatriz Sánchez-Heras, Ángel Segura, María-José Juan, Isabel Tena, Adela Castillejo, José-Luis Soto
BACKGROUND: We identified a new and a recurrent POLD1 mutation associated with predisposition to colorectal cancer (CRC). We characterized the molecular and clinical nature of the potential POLD1 founder mutation in families from Valencia (Spain). METHODS: Clinical and molecular data were collected from 4 independent families known to have a POLD1 Leu474Pro mutation. To establish its founder effect, haplotype construction was performed using 14 flanking POLD1 polymorphic markers...
March 17, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28302160/increased-genomic-burden-of-germline-copy-number-variants-is-associated-with-early-onset-breast-cancer-australian-breast-cancer-family-registry
#7
Logan C Walker, John F Pearson, George A R Wiggins, Graham G Giles, John L Hopper, Melissa C Southey
BACKGROUND: Women with breast cancer who have multiple affected relatives are more likely to have inherited genetic risk factors for the disease. All the currently known genetic risk factors for breast cancer account for less than half of the average familial risk. Furthermore, the genetic factor(s) underlying an increased cancer risk for many women from multiple-case families remain unknown. Rare genomic duplications and deletions, known as copy number variants (CNVs), cover more than 10% of a human genome, are often not assessed in studies of genetic predisposition, and could account for some of the so-called "missing heritability"...
March 16, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28301579/a-novel-model-of-colitis-associated-cancer-in-samp1-yitfc-mice-with-crohn-s-disease-like-ileitis
#8
Paola Menghini, Luca Di Martino, Loris R Lopetuso, Daniele Corridoni, Joshua C Webster, Wei Xin, Kristen O Arseneau, Minh Lam, Theresa T Pizarro, Fabio Cominelli
Patients with inflammatory bowel disease (IBD) are at increased risk for developing colorectal cancer. Evidence suggests that colonic dysplasia and colitis-associated cancer (CAC) are often linked to repeated cycles of epithelial cell injury and repair in the context of chronic production of inflammatory cytokines. Several mouse models of CAC have been proposed, including chemical induction through exposure to dextran sulfate sodium (DSS) with the genotoxic agents azoxymethane (AOM), 1,2-dymethylhydrazine (DHM) or targeted genetic mutations...
2017: PloS One
https://www.readbyqxmd.com/read/28283772/identification-genetic-testing-and-management-of-hereditary-melanoma
#9
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo
Several distinct melanoma syndromes have been defined, and genetic tests are available for the associated causative genes. Guidelines for melanoma genetic testing have been published as an informal "rule of twos and threes," but these guidelines apply to CDKN2A testing and are not intended for the more recently described non-CDKN2A melanoma syndromes. In order to develop an approach for the full spectrum of hereditary melanoma patients, we have separated melanoma syndromes into two types: "melanoma dominant" and "melanoma subordinate...
March 10, 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28283310/-genetic-predisposition-to-childhood-cancer
#10
Pilar Carrasco Salas, Pablo Lapunzina, Antonio Pérez-Martínez
No abstract text is available yet for this article.
March 7, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28280302/defective-dna-repair-mechanisms-in-prostate-cancer-impact-of-olaparib
#11
REVIEW
Francesca De Felice, Vincenzo Tombolini, Francesco Marampon, Angela Musella, Claudia Marchetti
The field of prostate oncology has continued to change dramatically. It has truly become a field that is intensely linked to molecular genetic alterations, especially DNA-repair defects. Germline breast cancer 1 gene (BRCA1) and breast cancer 2 gene (BRCA2) mutations are implicated in the highest risk of prostate cancer (PC) predisposition and aggressiveness. Poly adenosine diphosphate ribose polymerase (PARP) proteins play a key role in DNA repair mechanisms and represent a valid target for new therapies. Olaparib is an oral PARP inhibitor that blocks DNA repair pathway and coupled with BRCA mutated-disease results in tumor cell death...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28274953/incidence-of-malignant-tumours-in-patients-with-a-non-functioning-pituitary-adenoma
#12
Daniel S Olsson, Casper Hammarstrand, Ing-Liss Bryngelsson, Anna G Nilsson, Eva Andersson, Gudmundur Johannsson, Oskar Ragnarsson
Whether patients with non-functioning pituitary adenoma (NFPA) are at increased risk of developing malignant tumours has been sparsely studied and is a matter of debate. In this study, we have investigated the incidence of malignant tumours in a large and unselected group of patients with NFPA. The study was nationwide and included all patients diagnosed with NFPA between 1987-2011 (n=2,795) in Sweden, identified in the National Patient Register. Malignant tumours, occurring after the NFPA diagnosis, were identified in the Swedish Cancer Register between 1987-2014...
March 8, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28270529/inherited-tp53-mutations-and-the-li-fraumeni-syndrome
#13
Tanya Guha, David Malkin
Li-Fraumeni syndrome (LFS) is a complex hereditary cancer predisposition disorder associated with early-onset cancers in diverse tissues of origin. Germline TP53 mutations are identified in 75% of patients with classic LFS. The lifetime likelihood of a TP53 mutation carrier developing cancer approaches 75% in males and almost 100% in females. Several genetic modifiers have been implicated to account for the phenotypic variability within and across LFS families; however, efforts to develop predictive algorithms of age of onset and type of cancers in individual patients have not yet found clinical use...
March 7, 2017: Cold Spring Harbor Perspectives in Medicine
https://www.readbyqxmd.com/read/28259867/review-of-pharmacogenetics-studies-of-l-asparaginase-hypersensitivity-in-acute-lymphoblastic-leukemia-points-to-variants-in-the-gria1-gene
#14
Maria Lopez-Santillan, Leire Iparraguirre, Idoia Martin-Guerrero, Angela Gutierrez-Camino, Africa Garcia-Orad
Acute lymphoblastic leukemia (ALL) is a major pediatric cancer in developed countries. Although treatment outcome has improved owing to advances in chemotherapy, there is still a group of patients who experience severe adverse events. L-Asparaginase is an effective antineoplastic agent used in chemotherapy of ALL. Despite its indisputable indication, hypersensitivity reactions are common. In those cases, discontinuation of treatment is usually needed and anti-asparaginase antibody production may also attenuate asparaginase activity, compromising its antileukemic effect...
March 1, 2017: Drug Metabolism and Personalized Therapy
https://www.readbyqxmd.com/read/28256262/-muir-torre-syndrome-and-turcot-syndrome
#15
C Velter, P Caussade, J-P Fricker, B Cribier
INTRODUCTION: Lynch syndrome (LS) is a syndrome that carries a genetic predisposition to certain cancers associating, either in a single individual or in a family, a visceral tumour, mainly colorectal, with a high risk of other synchronous or metachronous cancers. LS is linked with mutations in the genes coding for proteins in the DNA repair system. Phenotypic variants of SL exist, including Muir-Torre syndrome (MTS) and Turcot syndrome (TS), both of which predispose to colorectal cancer...
February 27, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28256194/polymorphic-variations-associated-with-doxorubicin-induced-cardiotoxicity-in-breast-cancer-patients
#16
Valentina K Todorova, Issam Makhoul, Ishwori Dhakal, Jeanne Wei, Annjanette Stone, Weleetka Carter, Aaron Owen, V Suzanne Klimberg
Doxorubicin (DOX) is a commonly used antineoplastic agent for treatment of various malignancies, and its use is associated with unpredictable cardiotoxicity. Susceptibility to DOX cardiotoxicity is largely patient-dependent suggesting genetic predisposition. We have previously found that individual sensitivity to DOX-cardiotoxicity was associated with differential expression of genes implicated in inflammatory response and immune trafficking, which was consistent with the increasing number of reports highlighting the important role of HLA complex polymorphism in hypersensitivity to drug toxicity...
March 2, 2017: Oncology Research
https://www.readbyqxmd.com/read/28254144/hereditary-ovarian-cancer-and-risk-reduction
#17
REVIEW
Lesley Andrews, David G Mutch
Mutations in BRCA1 and BRCA2 account for hereditary breast and ovarian cancer syndrome in a majority of families and 14% of epithelial ovarian cancer cases. Despite next-generation sequencing, other identified genes (Lynch Syndrome, RAD51C, RAD51D, and BRIP1) account for only a small proportion of cases. The risk of ovarian cancer by age 70 is approximately 40% for BRCA1 and 18% for BRCA2. Most of these cancers are high-grade serous cancers that predominantly arise in the fimbriae of the fallopian tube. Ovarian screening does not improve outcomes, so women at high risk are recommended to undergo risk-reducing salpingo-oophorectomy around the age of 40, followed by hormone replacement therapy (HRT)...
January 17, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28242209/features-of-patients-with-hereditary-mixed-polyposis-syndrome-caused-by-duplication-of-grem1-and-implications-for-screening-and-surveillance
#18
S Lieberman, T Walsh, M Schechter, T Adar, E Goldin, R Beeri, N Sharon, H Baris, L Ben Avi, E Half, I Lerer, B H Shirts, C C Pritchard, I Tomlinson, M C King, E Levy-Lahad, T Peretz, Y Goldberg
Hereditary mixed polyposis syndrome is a rare colon cancer predisposition syndrome caused by a duplication of a non-coding sequence near the gremlin 1, DAN family BMP antagonist gene (GREM1) originally described in Ashkenazi Jews. Few families with GREM1 duplications have been described, so there are many questions about detection and management. We report 4 extended families with the duplication near GREM1 previously found in Ashkenazi Jews; 3 families were identified at cancer genetic clinics in Israel and 1 family was identified in a cohort of patients with familial colorectal cancer...
February 24, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28222777/identification-of-somatic-and-germ-line-dicer1-mutations-in-pleuropulmonary-blastoma-cystic-nephroma-and-rhabdomyosarcoma-tumors-within-a-dicer1-syndrome-pedigree
#19
Lorena Fernández-Martínez, José Antonio Villegas, Íñigo Santamaría, Ana S Pitiot, Marta G Alvarado, Soledad Fernández, Héctor Torres, Ángeles Paredes, Pilar Blay, Milagros Balbín
BACKGROUND: DICER1 syndrome is a pediatric cancer predisposition condition causing a variety of tumor types in children and young adults. In this report we studied a family with two relatives presenting a variety of neoplastic conditions at childhood. METHODS: Germ-line mutation screening of the complete coding region of the DICER1 gene in genomic DNA from the proband was performed. The presence of somatic DICER1 mutation and further alterations in driver genes was investigated in genomic DNA obtained from available tumor samples...
February 21, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28220687/environmental-factors-seven-gwas-identified-susceptibility-loci-and-risk-of-gastric-cancer-and-its-precursors-in-a-chinese-population
#20
Meng Cai, Shuyang Dai, Wanqing Chen, Changfa Xia, Lingeng Lu, Shuguang Dai, Jun Qi, Minjie Wang, Meilin Wang, Lanping Zhou, Fuhua Lei, Tingting Zuo, Hongmei Zeng, Xiaohang Zhao
Gene-environment interactions may increase gastric cancer (GC) risk. Seven susceptibility loci identified by genome-wide association studies (GWASs) suggest that genetic factors play a role in gastric carcinogenesis. Meanwhile, Helicobacter pylori (H. pylori) infection, smoking, and alcohol drinking are also important environmental factors for gastric cancer. However, studies to explore the role of gene-environment interactions in gastric carcinogenesis, and particularly the relationship between the seven susceptibility loci and their potential interactions with H...
March 2017: Cancer Medicine
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