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Familial Cancer

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https://www.readbyqxmd.com/read/30238178/genetic-counselling-of-young-women-with-breast-cancer-for-li-fraumeni-syndrome-a-nationwide-survey-on-the-experiences-and-attitudes-of-genetics-professionals
#1
J J Bakhuizen, M E Velthuizen, S Stehouwer, E M Bleiker, M G Ausems
Germline TP53 mutations are associated with an increased risk of early-onset breast cancer. Traditionally, it was not standard practice to offer TP53 genetic testing due to the low mutation detection rate and limited options regarding preventive screening. Recent guidelines recommend that all women diagnosed with breast cancer before the age of 31, irrespective of family history, should be offered TP53 genetic testing. This study aims to gain more knowledge on the attitudes and experiences among genetics professionals regarding the timing and content of genetic counselling of young breast cancer patients for Li-Fraumeni syndrome (LFS)...
September 20, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30229510/interest-in-willingness-to-pay-for-and-willingness-to-recommend-genetic-testing-for-prostate-cancer-among-affected-men-after-radical-prostatectomy
#2
Marcel Mayer, Katharina Selig, Frank Tüttelmann, Andreas Dinkel, Jürgen E Gschwend, Kathleen Herkommer
Knowledge about interest in genetic testing and willingness-to-pay for a genetic test among men affected from prostate cancer (PCa) is limited. This study aimed to gain insight into men's attitudes in genetic testing for PCa. 4699 men with PCa from the German multicenter prospective database "Familial Prostate Cancer" were included. Interest in, Willingness-to-pay for and Willingness-to-recommend a genetic test for PCa were quantified. Associations with several sociodemographic and psychosocial variables were evaluated by logistic regression...
September 18, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30196345/massive-juvenile-polyposis-of-the-stomach-in-a-family-with-smad4-gene-mutation
#3
Maurizio Ponz de Leon, Monica Pedroni, Alessandra Viel, Claudio Luppi, Rita Conigliaro, Federica Domati, Giuseppina Rossi, Luca Reggiani Bonetti
Relatively little is known on the genotype-phenotype correlations between SMAD4 gene mutations, juvenile polyposis of the intestine and Hereditary Hemorrhagic Teleangectasia. We describe a family in which the proband (a 46-year old woman) had massive polyposis of the stomach-leading to surgery-with high-grade dysplasia at histology. Molecular analysis was carried out using Next Generation sequencing techniques with Miseq Illumina Platforms and a minimal coverage of 40 reads. In the proband, the analysis showed the presence of a truncating mutation in the SMAD4 gene (c...
September 8, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30136106/the-brca1-exon-13-duplication-clinical-characteristics-of-22-families-in-northern-sweden
#4
Christina Edwinsdotter Ardnor, Anna Rosén, Ingrid Ljuslinder, Beatrice Melin
The clinical management of BRCA1/2 mutation carriers requires accurate cancer risk estimates. Cancer risks vary according to type and location of the mutation and since there is limited information about mutation-specific cancer risks, genotype-phenotype correlation studies are needed. This is a report of 22 families with the same mutation, BRCA1 duplication exon 13, a mutation that is found world-wide, with the objective to describe the cancer history found in these families. We studied 69 confirmed carriers, 53 women and 16 men, and additionally 29 women who were clinically expected carriers...
August 22, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30097855/candidate-susceptibility-variants-in-angioimmunoblastic-t-cell-lymphoma
#5
Iikki Donner, Riku Katainen, Eevi Kaasinen, Mervi Aavikko, Lauri J Sipilä, Eero Pukkala, Lauri A Aaltonen
Angioimmunoblastic T-cell lymphoma (AITL) is a subtype of peripheral T-cell lymphoma with a poor prognosis: the 5-year survival rate is approximately 30%. Somatic driver mutations have been found in TET2, IDH2, DNMT3A, RHOA, FYN, PLCG1, and CD28, whereas germline susceptibility to AITL has to our knowledge not been studied. The homogenous Finnish population is well suited for studies on genetic predisposition. Here, we performed an exome-wide rare variant analysis in 23 AITL patients. No germline mutations were found in the driver genes, implying that they are not frequently involved in genetic AITL predisposition...
August 10, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30019097/modified-capture-recapture-estimates-of-the-number-of-families-with-lynch-syndrome-in-central-ohio
#6
John Michael O Ranola, Rachel Pearlman, Heather Hampel, Brian H Shirts
Past methods for estimating the population frequency of familial cancer syndromes have used cases and controls ignoring the familial nature of genetic disease. In this study we modified the capture-recapture method from ecology to estimate the number of families in central Ohio with Lynch syndrome (LS). We screened 1566 colorectal cancer cases and 545 endometrial cancer cases in central Ohio from 1999 to 2005 and identified 58 with LS. We screened an additional 3346 colorectal and 342 endometrial cancer cases from 2013 to 2016 and identified 149 with LS...
July 17, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30003385/outcome-of-thyroid-ultrasound-screening-in-fap-patients-with-a-normal-baseline-exam
#7
Marc Monachese, Gautam Mankaney, Rocio Lopez, Margaret O'Malley, Lisa Laguardia, Matthew F Kalady, James Church, Joyce Shin, Carol A Burke
Familial adenomatous polyposis (FAP) is a hereditary cancer syndrome associated with a substantial lifetime risk for colorectal cancer. The leading extra-colonic causes of cancer in FAP include duodenal and thyroid cancer (TC). Recent guidelines recommend annual thyroid ultrasound (TUS) screening beginning in the teenage years but the evidence to support the interval particularly in FAP patients with a normal baseline ultrasound is lacking. TUS results from FAP patients enrolled in a thyroid screening program from 2006 to 2016 and who had at least 2 TUS were reviewed...
July 12, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29961174/molecular-analysis-of-an-asbestos-exposed-belgian-family-with-a-high-prevalence-of-mesothelioma
#8
Marieke Hylebos, Ken Op de Beeck, Jenneke van den Ende, Patrick Pauwels, Martin Lammens, Jan P van Meerbeeck, Guy Van Camp
Familial clustering of malignant mesothelioma (MM) has been linked to the presence of germline mutations in BAP1. However, families with multiple MM patients, without segregating BAP1 mutation were described, suggesting the existence of other predisposing genetic factors. In this study, we report a previously undescribed Belgian family, in which BAP1 was found to be absent in the epithelial malignant mesothelial cells of the index patient. Whole exome analysis did not reveal a germline or somatic BAP1 variant...
June 30, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29134539/germline-variant-in-msx1-identified-in-a-dutch-family-with-clustering-of-barrett-s-esophagus-and-esophageal-adenocarcinoma
#9
A M J van Nistelrooij, R van Marion, W F J van Ijcken, A de Klein, A Wagner, K Biermann, M C W Spaander, J J B van Lanschot, W N M Dinjens, B P L Wijnhoven
The vast majority of esophageal adenocarcinoma cases are sporadic and caused by somatic mutations. However, over the last decades several families have been identified with clustering of Barrett's esophagus and esophageal adenocarcinoma. This observation suggests that one or more hereditary factors may play a role in the initiation of Barrett's esophagus and esophageal adenocarcinoma in these families. A Dutch family with clustering of Barrett's esophagus and esophageal adenocarcinoma was identified. Normal DNA obtained from the proband diagnosed with Barrett's esophagus was analyzed with SNP array and exome sequencing...
July 2018: Familial Cancer
https://www.readbyqxmd.com/read/29128931/universal-determination-of-microsatellite-instability-using-bat26-as-a-single-marker-in-an-argentine-colorectal-cancer-cohort
#10
María Laura González, Natalia Causada-Calo, Juan Pablo Santino, Mev Dominguez-Valentin, Fabiana Alejandra Ferro, Inés Sammartino, Pablo Germán Kalfayan, Maria Alicia Verzura, Tamara Alejandra Piñero, Andrea Romina Cajal, Walter Pavicic, Carlos Vaccaro
Microsatellite instability (MSI) is a hallmark tool for Lynch syndrome (LS) screening and a prognostic marker for sporadic colorectal cancer (CRC). In regions with limited resources and scarce CRC molecular characterization as South America, the implementation of universal MSI screening is under debate for both its purposes. We sought to estimate the frequency of BAT26 in colorectal adenocarcinomas and to determine associated clinical and histological features. Consecutive patients from a CRC registry were included...
July 2018: Familial Cancer
https://www.readbyqxmd.com/read/29127520/association-between-mir-146a-rs2910164-polymorphism-and-specific-cancer-susceptibility-an-updated-meta-analysis
#11
REVIEW
Xia Hao, Lingzi Xia, Ruoyi Qu, Xianglin Yang, Min Jiang, Baosen Zhou
The rapidly increasing of cancer risk nationwide and worldwide has threatened human health and caused the changes of disease and death spectrum. MicroRNA (MiRNA) as cancer biomarker on susceptibility has enjoyed a high level of concern. This article will discuss the association between miR-146 rs2910164 polymorphism and cancer susceptibility in 38 independent case-control studies from 34905 individuals. The 38 case-control studies which were searched from PubMed were used for conducting a meta-analysis. There were 14670 cases and 20235 controls...
July 2018: Familial Cancer
https://www.readbyqxmd.com/read/29124495/excluding-lynch-syndrome-in-a-female-patient-with-metachronous-dna-mismatch-repair-deficient-colon-and-ovarian-cancer
#12
Stijn Crobach, Anne M L Jansen, Marjolein J L Ligtenberg, Marije Koopmans, Maartje Nielsen, Frederik J Hes, Juul T Wijnen, Winand N M Dinjens, Tom van Wezel, Hans Morreau
Patients synchronously or metachronously presenting with ovarian and colon cancer can pose diagnostic challenges. A primary colon carcinoma can metastasize to one or both ovaries, two independent primary tumors can arise or an ovarian carcinoma can metastasize to the colon. Clinical and immunohistochemical characterization can aid the diagnosis. Recently, we reported that in difficult cases finding pathogenic APC variants supports a colonic origin.In this case report we describe the clinical history of a female patient suspected for Lynch syndrome...
July 2018: Familial Cancer
https://www.readbyqxmd.com/read/29124494/information-and-support-needs-of-young-women-regarding-breast-cancer-risk-and-genetic-testing-adapting-effective-interventions-for-a-novel-population
#13
Suzanne C O'Neill, Chalanda Evans, Rebekah J Hamilton, Beth N Peshkin, Claudine Isaacs, Sue Friedman, Kenneth P Tercyak
Young women from hereditary breast and ovarian cancer (HBOC) families face a unique set of challenges in managing their HBOC risk, where obtaining essential information to inform decision making is key. Previous work suggests that this need for specific health information also comes at a time of heightened distress and greater individuation from family. In this report, we describe our adaptation of a previously-studied behavioral intervention for this population, utilizing a systematic approach outlined by the Centers for Disease Control and Prevention...
July 2018: Familial Cancer
https://www.readbyqxmd.com/read/29124493/genotype-phenotype-correlation-in-asian-indian-von-hippel-lindau-vhl-syndrome-patients-with-pheochromocytoma-paraganglioma
#14
Nilesh Lomte, Sanjeet Kumar, Vijaya Sarathi, Reshma Pandit, Manjunath Goroshi, Swati Jadhav, Anurag R Lila, Tushar Bandgar, Nalini S Shah
The data in genotype-phenotype correlation in Indian von Hippel-Lindau (VHL) patients is limited. We have retrospectively studied 31 genetically proven VHL patients with pheochromocytoma/paraganglioma (PCC/PGL) from families and have reviewed the World literature on PCC/PGL in patients with large VHL deletions. Three patients had large deletions and 28 patients had other mutations [missense mutations in 25, 3 bp deletion in 2 and single bp duplication in one]. Unilateral PCC were significantly more common in patients with large VHL deletions whereas multiple PCC (bilateral PCC or PCC + sympathetic PGL) were significantly more common in those with other mutations...
July 2018: Familial Cancer
https://www.readbyqxmd.com/read/29080081/cost-effectiveness-evaluation-of-pre-counseling-telephone-interviews-before-face-to-face-genetic-counseling-in-cancer-genetics
#15
Gaëlle Collet, Nathalie Parodi, Kevin Cassinari, Zoe Neviere, Fanny Cohen, Céline Gasnier, Afane Brahimi, François Lecoquierre, Jean-Christophe Thery, Isabelle Tennevet, Elodie Lacaze, Pascaline Berthet, Thierry Frebourg
One of the main challenges in cancer genetics is responding to the exponential demand for genetic counseling, especially in patients with breast and/or ovarian cancer. To address this demand, we have set up a new procedure, based on pre-genetic counseling telephone interviews (PTI) followed by routing of patients: D1, a PTI is scheduled within 14 days; D7-D14, genetic counselors perform a 20 min PTI in order to establish a pre-genetic counseling file, by collecting personal and family medical history via a structured questionnaire and; D10-17, routing: pre-genetic counseling appointment files are analyzed by a cancer geneticist with 3 possible conclusions: (a) priority face-to-face genetic counseling (FTFGC) appointment with a cancer geneticist, if the genetic test results have an immediate therapeutic impact; (b) non-priority FTFGC with a genetic counselor, or (c) no FTFGC required or substitution by a more appropriate index case...
July 2018: Familial Cancer
https://www.readbyqxmd.com/read/29071503/corrections-to-use-of-the-boadicea-web-application-in-clinical-practice-appraisals-by-clinicians-from-various-countries
#16
Anne Brédart, Jean-Luc Kop, Antonis C Antoniou, Alex P Cunningham, Antoine De Pauw, Marc Tischkowitz, Hans Ehrencrona, Sylvie Dolbeault, Léonore Robieux, Kerstin Rhiem, Douglas F Easton, Peter Devilee, Dominique Stoppa-Lyonnet, Rita Schmutlzer
The article "Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries" written by Anne Brédart · Jean‑Luc Kop · Antonis C. Antoniou · Alex P. Cunningham · Antoine De Pauw ·Marc Tischkowitz · Hans Ehrencrona · Sylvie Dolbeault · Léonore Robieux · Kerstin Rhiem ·Douglas F. Easton · Peter Devilee · Dominique Stoppa‑Lyonnet· Rita Schmutlzer, was originally published electronically on the publisher's internet portal (currently SpringerLink) on 16th June 2017 without open access...
July 2018: Familial Cancer
https://www.readbyqxmd.com/read/29071502/phenotypic-and-genotypic-heterogeneity-of-lynch-syndrome-a-complex-diagnostic-challenge
#17
REVIEW
Henry T Lynch, Stephen Lanspa, Trudy Shaw, Murray Joseph Casey, Marc Rendell, Mark Stacey, Theresa Townley, Carrie Snyder, Megan Hitchins, Joan Bailey-Wilson
Lynch syndrome is the hereditary disorder that most frequently predisposes to colorectal cancer as well as predisposing to a number of extracolonic cancers, most prominently endometrial cancer. It is caused by germline mutations in the mismatch repair genes. Both its phenotype and genotype show marked heterogeneity. This review gives a historical overview of the syndrome, its heterogeneity, its genomic landscape, and its implications for complex diagnosis, genetic counseling and putative implications for immunotherapy...
July 2018: Familial Cancer
https://www.readbyqxmd.com/read/29052111/targeted-massively-parallel-sequencing-characterises-the-mutation-spectrum-of-palb2-in-breast-and-ovarian-cancer-cases-from-poland-and-ukraine
#18
Aleksander Myszka, Tu Nguyen-Dumont, Pawel Karpinski, Maria M Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J Park, Bernard J Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska, Melissa C Southey
Loss-of-function germline mutations in the PALB2 gene are associated with an increase of breast cancer risk. The purpose of this study was to characterise the spectrum of PALB2 mutations in women affected with breast or ovarian cancer from South-West Poland and West Ukraine. We applied Hi-Plex, an amplicon-based enrichment method for targeted massively parallel sequencing, to screen the coding exons and proximal intron-exon junctions of PALB2 in germline DNA from unrelated women affected with breast cancer (n = 338) and ovarian cancer (n = 89) from Poland (n = 304) and Ukraine (n = 123)...
July 2018: Familial Cancer
https://www.readbyqxmd.com/read/29039136/cancer-risk-management-in-tasmanian-women-with-brca1-and-brca2-mutations
#19
Stephanie Kearton, Karen Wills, Michael Bunting, Penny Blomfield, Paul A James, Jo Burke
Women carrying germline mutations in BRCA1 or BRCA2 have significantly increased lifetime risks of breast and tubo-ovarian cancer. To manage the breast cancer risk women may elect to have breast screening by MRI/mammogram from age 30, to take risk-reducing medication, or to have a prophylactic bilateral mastectomy. To manage the tubo-ovarian cancer risk, the only effective strategy is to have a bilateral salpingo-oophorectomy, recommended by age 40 (BRCA1) or 'around' age 40 (BRCA2). Early studies suggested that uptake of these cancer risk-reducing strategies was low...
July 2018: Familial Cancer
https://www.readbyqxmd.com/read/29027612/penetrance-of-a-rare-familial-mutation-predisposing-to-papillary-thyroid-cancer
#20
Donika Saporito, Pamela Brock, Heather Hampel, Jennifer Sipos, Soledad Fernandez, Sandya Liyanarachchi, Albert de la Chapelle, Rebecca Nagy
Familial non-medullary thyroid cancer (FNMTC) is clinically defined as two or more first-degree relatives with NMTC and appears to follow an autosomal dominant inheritance pattern. Approximately 5-7% of NMTC is hereditary and affects multiple generations with a young age of onset. The primary aim of this study was to determine the age-specific penetrance of NMTC in individuals from a large family with FNMTC with a previously identified private mutation at 4q32, with a secondary aim to determine the penetrance for benign thyroid disease in this family...
July 2018: Familial Cancer
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