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Familial Cancer

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https://www.readbyqxmd.com/read/29209897/adaptation-of-couples-living-with-a-high-risk-of-breast-ovarian-cancer-and-the-association-with-risk-reducing-surgery
#1
Rachel Shapira, Erin Turbitt, Lori H Erby, Barbara B Biesecker, William M P Klein, Gillian W Hooker
Women who carry BRCA1/2 mutations have a significantly elevated risk for breast and ovarian cancer. The positive test result and subsequent decisions about risk reducing behaviors can evoke distress, anxiety and worry. Psychological adaptation, or the process of coming to terms with the implications of a health threat, is an understudied construct in BRCA1/2 carriers. Little is known about adaptation and how it relates to other aspects of living at high risk for cancer. Even less is understood about adaptation among partners of BRCA1/2 carriers, and its relationship to adaptation in high risk individuals...
December 5, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29204967/the-importance-of-a-well-structured-pancreatic-screening-program-for-familial-and-hereditary-pancreatic-cancer
#2
EDITORIAL
Hans F A Vasen
No abstract text is available yet for this article.
December 4, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29189962/metachronous-colorectal-cancer-following-segmental-or-extended-colectomy-in-lynch-syndrome-a-systematic-review-and-meta-analysis
#3
Salim S Malik, Mark P Lythgoe, Mark McPhail, Kevin J Monahan
Around 5% of colorectal cancers are due to mutations within DNA mismatch repair genes, resulting in Lynch syndrome (LS). These mutations have a high penetrance with early onset of colorectal cancer at a mean age of 45 years. The mainstay of surgical management is either a segmental or extensive colectomy. Currently there is no unified agreement as to which management strategy is superior due to limited conclusive empirical evidence available. A systematic review and meta- analysis to evaluate the risk of metachronous colorectal cancer (MCC) and mortality in LS following segmental and extensive colectomy...
November 30, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29189961/feasibility-of-endoscopic-resection-using-bipolar-snare-for-nonampullary-duodenal-tumours-in-familial-adenomatous-polyposis-patients
#4
Kazuya Inoki, Takeshi Nakajima, Satoru Nonaka, Seiichiro Abe, Haruhisa Suzuki, Shigetaka Yoshinaga, Ichiro Oda, Masayoshi Yamada, Mizuki Takatsu, Hiroshi Yoshida, Hirokazu Taniguchi, Shigeki Sekine, Yuichiro Ohe, Yutaka Saito
The management of duodenal and colorectal tumours is important in patients with familial adenomatous polyposis (FAP). Endoscopic resection (ER) should be carefully performed because the risk of complications during or after (ER) of nonampullary duodenal tumours is higher than that of stomach or colorectal lesions in general. Thus, we evaluated the feasibility of endoscopic resection using bipolar snare (ERB) for nonampullary duodenal tumours in FAP patients. Eleven FAP patients who underwent ERB for nonampullary duodenal tumours at our hospital between October 2013 and December 2016 were retrospectively analysed based on clinicopathological features...
November 30, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29147930/snp-association-study-in-pms2-associated-lynch-syndrome
#5
Sanne W Ten Broeke, Fadwa A Elsayed, Lisa Pagan, Maran J W Olderode-Berends, Encarna Gomez Garcia, Hans J P Gille, Liselot P van Hest, Tom G W Letteboer, Lizet E van der Kolk, Arjen R Mensenkamp, Theo A van Os, Liesbeth Spruijt, Bert J W Redeker, Manon Suerink, Yvonne J Vos, Anja Wagner, Juul T Wijnen, E W Steyerberg, Carli M J Tops, Tom van Wezel, Maartje Nielsen
Lynch syndrome (LS) patients are at high risk of developing colorectal cancer (CRC). Phenotypic variability might in part be explained by common susceptibility loci identified in Genome Wide Association Studies (GWAS). Previous studies focused mostly on MLH1, MSH2 and MSH6 carriers, with conflicting results. We aimed to determine the role of GWAS SNPs in PMS2 mutation carriers. A cohort study was performed in 507 PMS2 carriers (124 CRC cases), genotyped for 24 GWAS SNPs, including SNPs at 11q23.1 and 8q23.3...
November 17, 2017: 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
#6
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...
November 13, 2017: 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
#7
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...
November 11, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29127520/association-between-mir-146a-rs2910164-polymorphism-and-specific-cancer-susceptibility-an-updated-meta-analysis
#8
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...
November 10, 2017: 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
#9
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...
November 9, 2017: 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
#10
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...
November 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29124493/genotype-phenotype-correlation-in-asian-indian-von-hippel-lindau-vhl-syndrome-patients-with-pheochromocytoma-paraganglioma
#11
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...
November 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29116431/correlation-of-il-31-gene-polymorphisms-with-susceptibility-and-clinical-recurrence-of-bladder-cancer
#12
Qin Li, Tielong Tang, Peng Zhang, Chenlu Liu, Yan Pu, Yan Zhang, Huizi Song, Yanyun Wang, Yaping Song, Min Su, Bin Zhou, Lin Zhang
Interleukin-31 is a crucial cytokine triggering inflammation which could be one of the risk factors of tumors. However, data for correlation between IL-31 and tumors are limited. The purpose of our study was to discuss whether genetic polymorphisms of IL-31 were associated with the susceptibility and clinical outcomes of bladder cancer. Our study enrolled 478 controls, 156 non-muscle-invasive bladder cancer (NMIBC) and 138 muscle-invasive bladder cancer (MIBC) patients. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping two single nucleotide polymorphisms (SNPs) of IL-31 gene including rs7977932 and rs4758680...
November 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29101607/development-of-a-high-risk-pancreatic-screening-clinic-using-3-0%C3%A2-t-mri
#13
Chad A Barnes, Elizabeth Krzywda, Shannon Lahiff, Dena McDowell, Kathleen K Christians, Paul Knechtges, Parag Tolat, Mark Hohenwalter, Kulwinder Dua, Abdul H Khan, Douglas B Evans, Jennifer Geurts, Susan Tsai
Selective screening for pancreatic cancer (PC) has been proposed. We describe the establishment of a comprehensive multidisciplinary screening program using 3.0 T MRI. Criteria for screening included the presence of PC in: ≥ 2 first degree relatives (FDR), 1 FDR and 1 s degree relative (SDR), ≥ 3 any degree relatives (ADR), or any known hereditary cancer syndrome with increased PC risk. Imaging with 3.0 T MRI was performed routinely and endoscopic ultrasound was used selectively. Screening was completed in 75 patients (pts)...
November 3, 2017: 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
#14
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...
October 27, 2017: 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
#15
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...
October 25, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29071502/phenotypic-and-genotypic-heterogeneity-of-lynch-syndrome-a-complex-diagnostic-challenge
#16
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...
October 25, 2017: 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
#17
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)...
October 19, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29039136/cancer-risk-management-in-tasmanian-women-with-brca1-and-brca2-mutations
#18
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...
October 16, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29027612/penetrance-of-a-rare-familial-mutation-predisposing-to-papillary-thyroid-cancer
#19
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...
October 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29019086/family-history-influences-the-tumor-characteristics-and-prognosis-of-breast-cancers-developing-during-postmenopausal-hormone-therapy
#20
Rainer Fagerholm, Maria Faltinova, Kirsi Aaltonen, Kristiina Aittomäki, Päivi Heikkilä, Mervi Halttunen-Nieminen, Heli Nevanlinna, Carl Blomqvist
Long term use of postmenopausal hormone therapy (HT) has been reported to increase breast cancer risk. On the other hand, observational studies suggest that breast cancers diagnosed during HT may have a more favorable prognosis. While family history is a risk factor for breast cancer, and genetic factors also influence prognosis, the role of family history in combination with HT use has been little studied. We investigated the relationship between HT, family history, and prognosis in 584 (267 exposed) familial and 952 (460 exposed) non-familial breast cancer cases, using three survival end points: death from breast cancer (BCS), distant disease free survival (DDFS), and local recurrence free survival (LRFS)...
October 10, 2017: Familial Cancer
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