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Genetic predisposition to cancer

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https://www.readbyqxmd.com/read/28730229/molecular-analysis-of-brca1-and-brca2-genes-by-next-generation-sequencing-and-ultrastructural-aspects-of-breast-tumor-tissue
#1
Corina Elena Mihalcea, Ana Maria Moroşanu, Daniela Murăraşu, Liliana Puiu, Sabin Aurel Cinca, Silviu Cristian Voinea, Nicolae Mirancea
In this paper, we focus our interest on the dynamics alterations of the tumor-stroma interface at the ultrastructural level and to detect BRCA1 and BRCA2 mutations using next generation sequencing (NGS) of breast tumor tissue. Electron microscopic investigation revealed some peculiar infrastructural alterations of the tumor cells per se as well as of the tumor-stroma interface: invadopodia, shedding microvesicles, altered morphology and reduced number of telocytes, different abnormalities of the microvasculature...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28727877/genetic-predisposition-to-breast-cancer-due-to-mutations-other-than-brca1-and-brca2-founder-alleles-among-ashkenazi-jewish-women
#2
Tom Walsh, Jessica B Mandell, Barbara M Norquist, Silvia Casadei, Suleyman Gulsuner, Ming K Lee, Mary-Claire King
Importance: Among Ashkenazi Jewish women, 3 mutations in BRCA1 and BRCA2 severely increase the risk of breast and ovarian cancer. However, among Ashkenazi Jewish patients with breast cancer who do not carry one of these founder mutations, the likelihood of carrying another pathogenic mutation in BRCA1 or BRCA2 or another breast cancer gene is not known. This information would be valuable to the patient and family for cancer prevention and treatment. Objective: To determine the frequency of cancer-predisposing mutations other than the BRCA1 and BRCA2 founder alleles among patients of Ashkenazi Jewish ancestry with breast cancer...
July 20, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28725292/-pre-metastatic-niches-in-breast-cancer-are-they-created-by-or-prior-to-the-tumour-onset-flammer-syndrome-relevance-to-address-the-question
#3
Rostyslav Bubnov, Jiri Polivka, Pavol Zubor, Katarzyna Konieczka, Olga Golubnitschaja
Breast cancer (BC) epidemic in the twenty-first century is characterised by around half a million deaths and 1.7 million new cases registered annually worldwide. Metastatic disease is the major cause of death in BC patient cohorts. Current statistics are much alarming from the viewpoint of the early mortality amongst BC patients with de novo metastatic disease. A new paradigm of so-called "pre-metastatic niches" may sufficiently promote our knowledge regarding potential pathomechanisms, individual predisposition and prognosis in development and progression of the metastatic disease...
June 2017: EPMA Journal
https://www.readbyqxmd.com/read/28718657/bitter-taste-of-brassica-vegetables-the-role-of-genetic-factors-receptors-isothiocyanates-glucosinolates-and-flavor-context
#4
Martyna N Wieczorek, Michał Walczak, Marzena Skrzypczak-Zielińska, Henryk H Jeleń
It is well known that consumption of Brassica vegetables has beneficial effect on human's health. The greatest interest is focused on glucosinolates and their hydrolysis products isothiocyanates, due to their potential as cancer preventing compounds. Brassica vegetables are also rich in flavor compounds belonging to many chemical groups. The main sensory sensation related to these vegetable is their characteristic sharp and bitter taste, and unique aroma. Because of these features this group of vegetables is often rejected by consumers...
July 18, 2017: Critical Reviews in Food Science and Nutrition
https://www.readbyqxmd.com/read/28717660/a-novel-molecular-diagnostics-platform-for-somatic-and-germline-precision-oncology
#5
Rubén Cabanillas, Marta Diñeiro, David Castillo, Patricia C Pruneda, Cristina Penas, Guadalupe A Cifuentes, Álvaro de Vicente, Noelia S Durán, Rebeca Álvarez, Gonzalo R Ordóñez, Juan Cadiñanos
BACKGROUND: Next-generation sequencing (NGS) opens new options in clinical oncology, from therapy selection to genetic counseling. However, realization of this potential not only requires succeeding in the bioinformatics and interpretation of the results, but also in their integration into the clinical practice. We have developed a novel NGS diagnostic platform aimed at detecting (1) somatic genomic alterations associated with the response to approved targeted cancer therapies and (2) germline mutations predisposing to hereditary malignancies...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28715532/germline-mutation-status-pathological-complete-response-and-disease-free-survival-in-triple-negative-breast-cancer-secondary-analysis-of-the-geparsixto-randomized-clinical-trial
#6
Eric Hahnen, Bianca Lederer, Jan Hauke, Sibylle Loibl, Sandra Kröber, Andreas Schneeweiss, Carsten Denkert, Peter A Fasching, Jens U Blohmer, Christian Jackisch, Stefan Paepke, Bernd Gerber, Sherko Kümmel, Christian Schem, Guido Neidhardt, Jens Huober, Kerstin Rhiem, Serban Costa, Janine Altmüller, Claus Hanusch, Holger Thiele, Volkmar Müller, Peter Nürnberg, Thomas Karn, Valentina Nekljudova, Michael Untch, Gunter von Minckwitz, Rita K Schmutzler
Importance: The GeparSixto trial provided evidence that the addition of neoadjuvant carboplatin to a regimen consisting of anthracycline, taxane, and bevacizumab increases pathological complete response (pCR) rates in patients with triple-negative breast cancer (TNBC). Whether BRCA1 and BRCA2 germline mutation status affects treatment outcome remains elusive. Objective: To determine whether BRCA1 and BRCA2 germline mutation status affects therapy response in patients with TNBC...
July 13, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28713672/bap1-a-tumor-suppressor-gene-driving-malignant-mesothelioma
#7
REVIEW
Mitchell Cheung, Joseph R Testa
Like cancer generally, malignant mesothelioma (MM) is a genetic disease at the cellular level. DNA copy number analysis of mesothelioma specimens has revealed a number of recurrent sites of chromosomal loss, including 3p21.1, 9p21.3, and 22q12.2. The key inactivated driver genes located at 9p21.1 and 22q12.2 were discovered two decades ago as being the tumor suppressor loci CDKN2A and NF2, respectively. Only relatively recently was the BAP1 gene determined to be the driver gene at 3p21.1 that is somatically inactivated...
June 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/28713573/a-monograph-proposing-the-use-of-canine-mammary-tumours-as-a-model-for-the-study-of-hereditary-breast-cancer-susceptibility-genes-in-humans
#8
REVIEW
Katie Goebel, Nancy D Merner
Canines are excellent models for cancer studies due to their similar physiology and genomic sequence to humans, companion status and limited intra-breed heterogeneity. Due to their affliction to mammary cancers, canines can serve as powerful genetic models of hereditary breast cancers. Variants within known human breast cancer susceptibility genes only explain a fraction of familial cases. Thus, further discovery is necessary but such efforts have been thwarted by genetic heterogeneity. Reducing heterogeneity is key, and studying isolated human populations have helped in the endeavour...
May 2017: Veterinary Medicine and Science
https://www.readbyqxmd.com/read/28708320/monosomy-7-del-7q-in-inherited-bone-marrow-failure-syndromes-a-systematic-review
#9
REVIEW
Alex Pezeshki, Shreya Podder, Ralph Kamel, Seth J Corey
Inherited bone marrow failure syndromes (IBMFS) are rare cancer predisposition syndromes with an especially high risk of transformation to myelodysplastic syndrome (MDS) and/or acute myeloid leukemia (AML). We performed a retrospective systematic review of reported MDS/AML arising in the eight most common IBMFS to determine the frequency and outcome of chromosome 7 abnormalities. We identified 738 MDS/AML cases of 4,293 individuals. Monosomy 7 or del (7q) occurred in ∼17%. Greater understanding of the roles played by sequential acquisition of genetic and cytogenetic changes will provide insights into myeloid leukemogenesis and improve the surveillance and hopefully outcomes for individuals with IBMFS...
July 14, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28706907/the-cappadocia-mesothelioma-epidemic-its-influence-in-turkey-and-abroad
#10
REVIEW
Salih A Emri
The epidemic of mesothelioma in Cappadocia, Turkey, is unprecedented in medical history. In three Cappadocian villages, Karain, Tuzkoy and "old" Sarihidir, about 50% of all deaths (including neonatal deaths and traffic fatalities) have been caused by mesothelioma. No other epidemic in medical history has caused such a high incidence of death. This is even more unusual when considering that (I) epidemics are caused by infectious agents, not cancer, and (II) mesothelioma is a rare cancer. World-wide mesothelioma incidence varies between 1/10(6) in areas with no asbestos industry to about 10-30/10(6) in areas with asbestos industry...
June 2017: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28702891/predictors-associated-with-mri-surveillance-screening-in-women-with-a-personal-history-of-unilateral-breast-cancer-but-without-a-genetic-predisposition-for-future-contralateral-breast-cancer
#11
John V Hegde, Xiaoyan Wang, Deanna J Attai, Maggie L DiNome, Amy Kusske, Anne C Hoyt, Sara A Hurvitz, Joanne B Weidhaas, Michael L Steinberg, Susan A McCloskey
PURPOSE: For women with a personal history of breast cancer (PHBC), no validated mechanisms exist to calculate future contralateral breast cancer (CBC) risk. The Manchester risk stratification guidelines were developed to evaluate CBC risk in women with a PHBC, primarily for surgical decision making. This tool may be informative for the use of MRI screening, as CBC risk is an assumed consideration for high-risk surveillance. METHODS: Three hundred twenty-two women with a PHBC were treated with unilateral surgery within our multidisciplinary breast clinic...
July 12, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28700432/novel-fumarate-hydratase-mutation-in-siblings-with-early-onset-uterine-leiomyomas-and-hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome
#12
Vinay Gunnala, Nigel Pereira, Mohamad Irani, Debra Lilienthal, Edyta C Pirog, Robert Soslow, Thomas A Caputo, Rony Elias, Isaac Kligman, Zev Rosenwaks
Hereditary leiomyomatosis renal cell cancer syndrome is an autosomal dominant disorder characterized by uterine and cutaneous leiomyomas and increased predisposition to renal cell carcinoma, papillary type II. The syndrome is caused by heterozygous mutations to the fumarate hydratase (FH) gene located on chromosome 1. Affected females generally present with early onset, atypical uterine leiomyomas and cutaneous findings, however, delays in diagnosis are very common in patients with isolated uterine findings...
July 11, 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28697982/prostate-cancer-screening-in-a-new-era-of-genetics
#13
Heather H Cheng, Colin C Pritchard, Bruce Montgomery, Daniel W Lin, Peter S Nelson
Men who inherit pathogenic germline mutations in BRCA2 and BRCA1 are at increased risk of developing aggressive prostate cancer, and those with germline mutations in other DNA repair genes such as ATM, CHEK2, and MSH2/MSH6 may also have increased risks. Although clinically important, there is lack of specific guidance regarding management strategies for men at increased risk owing to germline mutation status or family history of aggressive prostate cancer. We review prostate cancer genetic risk factors and the ongoing IMPACT (Identification of Men with a genetic predisposition to ProstAte Cancer: Targeted screening in BRCA1/2 mutation carriers and controls) screening study...
May 31, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28693568/anorexia-nervosa-and-cancer-a-protocol-for-a-systematic-review-and-meta-analysis-of-observational-studies
#14
Ferrán Catalá-López, Brian Hutton, Jane A Driver, Manuel Ridao, José M Valderas, Ricard Gènova-Maleras, Jaume Forés-Martos, Adolfo Alonso-Arroyo, Diego Macías Saint-Gerons, Eduard Vieta, Alfonso Valencia, Rafael Tabarés-Seisdedos
BACKGROUND: Anorexia nervosa is characterized by a severe restriction of caloric intake, low body weight, fear of gaining weight or of becoming fat, and disturbance of body image. Pathogenesis of the disorder may include genetic predisposition, hormonal changes and a combination of environmental, psychosocial, and cultural factors. Cancer is the second leading cause of death worldwide. At present, no systematic reviews and meta-analyses have evaluated the risk of cancer in people with anorexia nervosa...
July 11, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28692553/simultaneous-presentation-of-wilms-tumor-and-immature-ovarian-teratoma-in-beckwith-wiedemann-syndrome
#15
Jason C White, Jinglan Liu, Akash Nahar
The Beckwith-Wiedemann syndrome is a cancer predisposition syndrome characterized by a predilection to embryonal tumor growth, especially Wilms tumor, adrenocortical carcinomas, and hepatoblastomas. Genetic analysis of patients has revealed a link to the imprinted domain of the 11p15.5 chromosome and methylation status of the H19 locus and Igf-2. These genes have also been studied in other cancers, including ovarian teratomas. Our case is a patient with a simultaneous presentation of a Wilms tumor and immature ovarian teratoma and subsequently diagnosed with Beckwith-Wiedemann syndrome, which has not been previously described...
July 7, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28691344/combined-tumor-genomic-profiling-and-exome-sequencing-in-a-breast-cancer-family-implicates-atm-in-tumorigenesis-a-proof-of-principle-study
#16
Virginie Bubien, Françoise Bonnet, Jennifer Dupiot-Chiron, Emmanuelle Barouk-Simonet, Natalie Jones, Aurélien de Reynies, Gaëtan MacGrogan, Nicolas Sevenet, Eric Letouzé, Michel Longy
Familial breast cancers (BCs) account for 10-20% of all diagnosed BCs, yet only 20% of such tumors arise in the context of a germline mutation in known tumor suppressor genes such as BRCA1 or BRCA2. The vast genetic heterogeneity which characterizes non BRCA1 and non BRCA2 (or BRCAx) families makes grouped studies impossible to perform. Next generation sequencing techniques, however, allow individual families to be studied in order to identify rare and or private mutations but the high number of genetic variants identified need to be sorted using pathogenicity or recurrence criteria...
July 10, 2017: Genes, Chromosomes & Cancer
https://www.readbyqxmd.com/read/28687971/the-spectrum-of-genetic-variants-in-hereditary-pancreatic-cancer-includes-fanconi-anemia-genes
#17
Thomas P Slavin, Susan L Neuhausen, Bita Nehoray, Mariana Niell-Swiller, Ilana Solomon, Christina Rybak, Kathleen Blazer, Aaron Adamson, Kai Yang, Sharon Sand, Nancy Guerrero-Llamas, Danielle Castillo, Josef Herzog, Xiwei Wu, Shu Tao, Shivali Raja, Vincent Chung, Gagandeep Singh, Sue Nadesan, Sandra Brown, Marcia Cruz-Correa, Gloria M Petersen, Jeffrey Weitzel
Approximately 5-10% of all pancreatic cancer patients carry a predisposing mutation in a known susceptibility gene. Since >90% of patients present with late stage disease, it is crucial to identify high risk individuals who may be amenable to early detection or other prevention. To explore the spectrum of hereditary pancreatic cancer susceptibility, we evaluated germline DNA from pancreatic cancer participants (n = 53) from a large hereditary cancer registry. For those without a known predisposition mutation gene (n = 49), germline next generation sequencing was completed using targeted capture for 706 candidate genes...
July 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28687188/-oral-and-dental-expression-of-thyroid-diseases
#18
Jean-Louis Wémeau, Christine Do Cao, Miriam Ladsous
Oral disorders were observed in children with congenital hypothyroidism, lately apparent because of difficulties of feeding, swallowing disorders, and macroglossia. Macroglossia was also a component of the severe acquired myxedema, particularly observed in hypothyroidism related to autoimmune atrophic thyroiditis beyond menopause. Lingual ectopy in children and adults could determine respiratory gene or swallowing difficulties, and were detectable by visual examination and the endobuccal touch. Expression of these events was completely minimized since the neonatal screening of congenital hypothyroidism, also by the common practice in adults of serum TSH determinations...
July 4, 2017: La Presse Médicale
https://www.readbyqxmd.com/read/28674121/multiple-endocrine-neoplasia-and-hyperparathyroid-jaw-tumor-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#19
REVIEW
Jonathan D Wasserman, Gail E Tomlinson, Harriet Druker, Junne Kamihara, Wendy K Kohlmann, Christian P Kratz, Katherine L Nathanson, Kristian W Pajtler, Andreu Parareda, Surya P Rednam, Lisa J States, Anita Villani, Michael F Walsh, Kristin Zelley, Joshua D Schiffman
Children and adolescents who present with neuroendocrine tumors are at extremely high likelihood of having an underlying germline predisposition for the multiple endocrine neoplasia (MEN) syndromes, including MEN1, MEN2A and MEN2B, MEN4, and hyperparathyroid-jaw tumor (HPT-JT) syndromes. Each of these autosomal dominant syndromes results from a specific germline mutation in unique genes: MEN1 is due to pathogenic MEN1 variants (11q13), MEN2A and MEN2B are due to pathogenic RET variants (10q11.21), MEN4 is due to pathogenic CDKN1B variants (12p13...
July 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28674120/surveillance-recommendations-for-children-with-overgrowth-syndromes-and-predisposition-to-wilms-tumors-and-hepatoblastoma
#20
REVIEW
Jennifer M Kalish, Leslie Doros, Lee J Helman, Raoul C Hennekam, Roland P Kuiper, Saskia M Maas, Eamonn R Maher, Kim E Nichols, Sharon E Plon, Christopher C Porter, Surya Rednam, Kris Ann P Schultz, Lisa J States, Gail E Tomlinson, Kristin Zelley, Todd E Druley
A number of genetic syndromes have been linked to increased risk for Wilms tumor (WT), hepatoblastoma (HB), and other embryonal tumors. Here, we outline these rare syndromes with at least a 1% risk to develop these tumors and recommend uniform tumor screening recommendations for North America. Specifically, for syndromes with increased risk for WT, we recommend renal ultrasounds every 3 months from birth (or the time of diagnosis) through the seventh birthday. For HB, we recommend screening with full abdominal ultrasound and alpha-fetoprotein serum measurements every 3 months from birth (or the time of diagnosis) through the fourth birthday...
July 1, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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