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Genetic predisposition to cancer

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https://www.readbyqxmd.com/read/28640700/cns-tumors-in-neurofibromatosis
#1
Jian Campian, David H Gutmann
Neurofibromatosis (NF) encompasses a group of distinct genetic disorders in which affected children and adults are prone to the development of benign and malignant tumors of the nervous system. The purpose of this review is to discuss the spectrum of CNS tumors arising in individuals with NF type 1 (NF1) and NF type 2 (NF2), their pathogenic etiologies, and the rational treatment options for people with these neoplasms. This article is a review of preclinical and clinical data focused on the treatment of the most common CNS tumors encountered in children and adults with NF1 and NF2...
June 22, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28634180/a-mutyh-germline-mutation-is-associated-with-small-intestinal-neuroendocrine-tumors
#2
Jan P Dumanski, Chiara Rasi, Peyman Björklund, Hanna Davies, Abir Salwa Ali, Malin Grönberg, Staffan Welin, Halfdan Sorbye, Henning Grønbæk, Janet Cunningham, Lars A Forsberg, Lars Lind, Erik Ingelsson, Peter Stalberg, Per Hellman, Eva Tiensuu Janson
The genetics behind predisposition to small intestinal neuroendocrine tumors (SI-NETs) is largely unknown, but there is growing awareness of a familial form of the disease. We aimed to identify germline mutations involved in the carcinogenesis of SI-NETs. The strategy included next-generation sequencing of exome- and/or whole-genome of blood DNA, and in selected cases tumor DNA, from 24 patients from 15 families with the history of SI-NETs. We identified seven candidate mutations in six genes that were further studied using 215 sporadic SI-NET patients...
June 20, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28630945/the-icr96-exon-cnv-validation-series-a-resource-for-orthogonal-assessment-of-exon-cnv-calling-in-ngs-data
#3
Shazia Mahamdallie, Elise Ruark, Shawn Yost, Emma Ramsay, Imran Uddin, Harriett Wylie, Anna Elliott, Ann Strydom, Anthony Renwick, Sheila Seal, Nazneen Rahman
Detection of deletions and duplications of whole exons (exon CNVs) is a key requirement of genetic testing. Accurate detection of this variant type has proved very challenging in targeted next-generation sequencing (NGS) data, particularly if only a single exon is involved. Many different NGS exon CNV calling methods have been developed over the last five years. Such methods are usually evaluated using simulated and/or in-house data due to a lack of publicly-available datasets with orthogonally generated results...
2017: Wellcome Open Research
https://www.readbyqxmd.com/read/28620890/identification-and-characterization-of-a-new-brca2-rearrangement-in-an-italian-family-with-hereditary-breast-and-ovarian-cancer-syndrome
#4
Paola Concolino, Roberta Rizza, Karl Hackmann, Angelo Minucci, Giovanni Luca Scaglione, Maria De Bonis, Alessandra Costella, Cecilia Zuppi, Evelin Schrock, Ettore Capoluongo
INTRODUCTION: Many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic rearrangements (LGRs) of BRCA1 account for 0-27% of all disease-causing mutations in various populations, while LGRs in BRCA2 are rarer. Here, we describe a novel BRCA2 LGR, involving the duplication of exons 4-26, in an Italian family with hereditary breast and ovarian cancer (HBOC) syndrome. OBJECTIVE: Our purpose was to provide an effective characterization of this variant using a combination of different methods able to establish the exact breakpoints of the duplication...
June 15, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28620009/recommendations-for-cancer-surveillance-in-individuals-with-rasopathies-and-other-rare-genetic-conditions-with-increased-cancer-risk
#5
REVIEW
Anita Villani, Mary-Louise C Greer, Jennifer M Kalish, Akira Nakagawara, Katherine L Nathanson, Kristian W Pajtler, Stefan M Pfister, Michael F Walsh, Jonathan D Wasserman, Kristin Zelley, Christian P Kratz
In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the current knowledge of these syndromes and to propose consensus surveillance recommendations. Herein, we summarize clinical and genetic aspects of RASopathies and Sotos, Weaver, Rubinstein-Taybi, Schinzel-Giedion, and NKX2-1 syndromes as well as specific metabolic disorders known to be associated with increased childhood cancer risk. In addition, the expert panel reviewed whether sufficient data exist to make a recommendation that all patients with these disorders be offered cancer surveillance...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28620007/von-hippel-lindau-and-hereditary-pheochromocytoma-paraganglioma-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#6
REVIEW
Surya P Rednam, Ayelet Erez, Harriet Druker, Katherine A Janeway, Junne Kamihara, Wendy K Kohlmann, Katherine L Nathanson, Lisa J States, Gail E Tomlinson, Anita Villani, Stephan D Voss, Joshua D Schiffman, Jonathan D Wasserman
Von Hippel-Lindau disease (vHL) is a hereditary tumor predisposition syndrome that places affected individuals at risk for multiple tumors, which are predominantly benign and generally occur in the central nervous system or abdomen. Although the majority of tumors occur in adults, children and adolescents with the condition develop a significant proportion of vHL manifestations and are vulnerable to delayed tumor detection and their sequelae. Although multiple tumor screening paradigms are currently being utilized for patients with vHL, surveillance should be reassessed as the available relevant clinical information continues to expand...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28617886/major-hereditary-gastrointestinal-cancer-syndromes-a-narrative-review
#7
REVIEW
Lakshmi Manogna Chintalacheruvu, Trudy Shaw, Avanija Buddam, Osama Diab, Thamer Kassim, Sandeep Mukherjee, Henry T Lynch
Gastrointestinal cancer is one of the major causes of death worldwide. Hereditary gastrointestinal cancer syndromes constitute about 5-10% of all cancers. About 20-25% of undiagnosed cases have a possible hereditary component, which is not yet established. In the last few decades, the advance in genomics has led to the discovery of multiple cancer predisposition genes in gastrointestinal cancer. Physicians should be aware of these syndromes to identify high-risk patients and offer genetic testing to prevent cancer death...
June 2017: Journal of Gastrointestinal and Liver Diseases: JGLD
https://www.readbyqxmd.com/read/28616579/common-genetic-variation-in-the-germline-influences-where-and-how-tumors-develop
#8
Hannah Carter, Trey Ideker
Germline variation contributes to individual risk for developing specific types of cancer. Analyzing thousands of tumors, we found evidence that the germline also influences vulnerable tissue sites and the mutations that arise in tumor genomes. These associations provide new clues to unravel the biologic mechanisms underlying cancer predisposition.
2017: Molecular & Cellular Oncology
https://www.readbyqxmd.com/read/28612617/-breast-cancer-in-young-women-correlation-of-clinical-histomorphological-and-molecular-genetic-features-of-breast-carcinoma-in-women-younger-than-35-years-of-age
#9
A Metelková, A Skálová, J Fínek
BACKGROUND: Worldwide, breast cancer is the leading type of malignancy in women. For premenopausal women, the disease brings much higher risk as it is usually more aggressive with worse prognosis. PATIENTS AND METHODS: In this retrospective study, 92 women treated at the Department of Oncology and Radiotherapy in Pilsen were selected from a basic cohort of 356 women under 35 years of age with breast cancer who were diagnosed between 2006 and 2015. The control group comprised 100 postmenopausal women over 65 years of age who were treated for invasive breast cancer...
2017: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/28611551/first-two-cases-of-bloom-syndrome-in-russia-lack-of-skin-manifestations-in-a-blm-c-1642c-t-p-q548x-homozygote-as-a-likely-cause-of-underdiagnosis
#10
Evgeny N Suspitsin, Farida I Sibgatullina, Lydia V Lyazina, Evgeny N Imyanitov
Bloom syndrome (BS) is an exceptionally rare hereditary disease. Typical manifestations of BS usually include growth deficiency, a characteristic facial appearance, skin hypersensitivity to ultraviolet irradiation, and a strong predisposition to early-onset cancers. We have previously described a recurrent BLM c.1642C>T (p.Q548X) mutation, which is present in heterozygous state in 0.2-0.6% of individuals of Slavic origin. Despite the high occurrence of this founder allele, BS has not yet been described in patients of Slavic ethnicity...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28608266/potentially-pathogenic-germline-chek2-c-319-2t-a-among-multiple-early-onset-cancer-families
#11
Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
To study the potential contribution of genes other than BRCA1/2, PTEN, and TP53 to the biological and clinical characteristics of multiple early-onset cancers in Norwegian families, including early-onset breast cancer, Cowden-like and Li-Fraumeni-like syndromes (BC, CSL and LFL, respectively). The Hereditary Cancer Biobank from the Norwegian Radium Hospital was used to identify early-onset BC, CSL or LFL for whom no pathogenic variants in BRCA1/2, PTEN, or TP53 had been found in routine diagnostic DNA sequencing...
June 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28602465/the-management-of-sexuality-intimacy-and-menopause-symptoms-sims-after-prophylactic-bilateral-salpingo-oophorectomy-how-to-maintain-sexual-health-in-previvors
#12
REVIEW
Mehida Alexandre, Jonathan Black, Margaret Whicker, Mary Jane Minkin, Elena Ratner
"Previvors", or "pre-survivors", are individuals who do not have cancer but have a genetic predisposition to cancer. One such example is women with BRCA mutations. As a result of their predisposition to cancer, many will undergo a bilateral salpingo-oophorectomy when they are premenopausal. For premenopausal women, the removal of ovaries results in the depletion of estrogen, immediate menopause, and, in many cases, resultant Sexuality, Intimacy, and Menopausal Symptoms (SIMS). Furthermore, they may undergo changes in body image...
June 3, 2017: Maturitas
https://www.readbyqxmd.com/read/28601126/the-impact-of-gene-polymorphisms-in-angiotensin-receptor-1-and-aldosterone-synthase-in-peritoneal-dialysis-patients
#13
Alijana Trošt Rupnik, Damjan Kovač, Jernej Pajek, Joško Osredkar, Janja Marc, Jelka Lindič
AIM: Longevity of peritoneal membrane is an important issue in patients treated with peritoneal dialysis (PD). In our study, we studied the impact of angiotensin receptor 1 (AGT R1) and aldosterone synthase (CYP11B2) gene polymorphism on peritoneal concentrations of interleukin-6 (PI-IL-6), vascular endothelial growth factor (PI-VEGF), plasminogen activator inhibitor-1 (PI-PAI-1), transforming growth factor-β (PI-TGF-β), and cancer antigen-125 (PI-CA-125) as known markers of peritoneal fibrosis...
June 9, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28596805/ataxia-telangiectasia-patients-get-a-rare-chance-to-meet-the-experts-at-a-dedicated-workshop-in-ifom-the-firc-institute-of-molecular-oncology
#14
EDITORIAL
Linda Cairns
Ataxia telangiectasia (A-T) is a genetic syndrome characterized by cerebellar degeneration, telangiectasia, immunodeficiency and cancer predisposition. A-T occurs in between 1 in 40,000 and 1 in 100,000 live births. The first symptoms normally occur in early childhood when the infant begins to walk. Affected children have immunodeficiency and an increased predisposition for cancers. A-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name.
2017: Ecancermedicalscience
https://www.readbyqxmd.com/read/28591096/genetic-conditions-associated-with-a-predisposition-to-kidney-cancer
#15
(no author information available yet)
No abstract text is available yet for this article.
April 2017: Clinical Advances in Hematology & Oncology: H&O
https://www.readbyqxmd.com/read/28580501/predispositions-to-leukemia-in-down-syndrome-and-other-hereditary-disorders
#16
REVIEW
Satoshi Saida
Leukemia is the most common pediatric cancer and accounts for approximately one third of childhood malignancies. There are germline genetic alterations that significantly increase the risk of developing hematopoietic malignancies in childhood. In this review, we describe a number of these hereditary disorders and their clinical features. These predispositions to cancer syndromes can be attributed to DNA repair/genetic instability, RAS pathway dysfunction, bone marrow failure, telomeropathies, immunodeficiencies, transcription factor abnormalities, pure familial leukemia, and aneuploidy...
July 2017: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/28578017/functional-polymorphism-at-the-mir-502-binding-site-in-the-3-untranslated-region-of-the-setd8-gene-increased-the-risk-of-prostate-cancer-in-a-sample-of-iranian-population
#17
Behzad Narouie, Seyed Amir Mohsen Ziaee, Abbas Basiri, Mohammad Hashemi
MicroRNAs (miRNAs), a class of non-coding RNAs, bind to the 3' untranslated regions (3'-UTRs) of target mRNAs and regulate gene expression. Genetic variations in miRNA binding domains influence the susceptibility to several diseases such as cancer. Several studies investigated the impact of single-nucleotide polymorphism (SNP) rs16917496 T>C within the 3'-UTR of SETD8 on cancer susceptibility, but the results were controversial. In addition, no study has been conducted to inspect the impact of this SNP in prostate cancer (PCa)...
May 31, 2017: Gene
https://www.readbyqxmd.com/read/28577564/high-frequency-of-the-recurrent-c-1310_1313delaaga-brca2-mutation-in-the-north-east-of-morocco-and-implication-for-hereditary-breast-ovarian-cancer-prevention-and-control
#18
Fatima-Zahra Laarabi, Ilham Ratbi, Siham Chafai Elalaoui, Loubna Mezzouar, Yassamine Doubaj, Laila Bouguenouch, Karim Ouldim, Noureddine Benjaafar, Abdelaziz Sefiani
BACKGROUND: To date, a limited number of BRCA1/2 germline mutations have been reported in hereditary breast and/or ovarian cancer in the Moroccan population. Less than 20 different mutations of these two genes have been identified in Moroccan patients, and recently we reported a further BRCA2 mutation (c.1310_1313delAAGA; p.Lys437IlefsX22) in three unrelated patients, all from the North-East of the country. We aimed in this study to evaluate the frequency and geographic distribution of this BRCA2 frameshift mutation, in order to access its use as the first-line BRCA genetic testing strategy for Moroccan patients...
June 2, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28573494/a-novel-tp53-germline-inframe-deletion-identified-in-a-spanish-series-of-li-fraumeni-syndrome-suspected-families
#19
Patricia Llovet, Francisco J Illana, Lorena Martín-Morales, Miguel de la Hoya, Pilar Garre, M Dolores Ibañez-Royo, Pedro Pérez-Segura, Trinidad Caldés, Vanesa García-Barberán
Li-Fraumeni syndrome (LFS) is an autosomal dominant, inherited tumor predisposition syndrome associated with heterozygous germline mutations in the TP53 gene. The molecular diagnosis of LFS is important to develop strategies for early detection and access to the genetic counseling. Our study evaluated germline TP53 mutations in Spanish families with a history suggestive of LFS. Germline TP53 alterations in 22 families with a history suggestive of LFS were evaluated by Sanger sequencing and multiplex ligation-dependent probe amplification...
June 1, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28572266/cancer-screening-recommendations-for-individuals-with-li-fraumeni-syndrome
#20
REVIEW
Christian P Kratz, Maria Isabel Achatz, Laurence Brugières, Thierry Frebourg, Judy E Garber, Mary-Louise C Greer, Jordan R Hansford, Katherine A Janeway, Wendy K Kohlmann, Rose McGee, Charles G Mullighan, Kenan Onel, Kristian W Pajtler, Stefan M Pfister, Sharon A Savage, Joshua D Schiffman, Katherine A Schneider, Louise C Strong, D Gareth R Evans, Jonathan D Wasserman, Anita Villani, David Malkin
Li-Fraumeni syndrome (LFS) is an autosomal dominantly inherited condition caused by germline mutations of the TP53 tumor suppressor gene encoding p53, a transcription factor triggered as a protective cellular mechanism against different stressors. Loss of p53 function renders affected individuals highly susceptible to a broad range of solid and hematologic cancers. It has recently become evident that children and adults with LFS benefit from intensive surveillance aimed at early tumor detection. In October 2016, the American Association for Cancer Research held a meeting of international LFS experts to evaluate the current knowledge on LFS and propose consensus surveillance recommendations...
June 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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