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Familial Cancer

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https://www.readbyqxmd.com/read/29464398/discussions-about-predictive-genetic-testing-for-lynch-syndrome-the-role-of-health-professionals-and-families-in-decisions-to-decline
#1
Anaita Kanga-Parabia, Clara Gaff, Louisa Flander, Mark Jenkins, Louise A Keogh
Unaffected relatives of individuals with Lynch syndrome can be offered predictive genetic testing to guide surveillance recommendations. The decision-making process of those who decline testing, particularly those who do not attend a clinical genetics service, is poorly understood. We have addressed this gap by interviewing 33 individuals from Lynch syndrome mutation-carrying families, unaffected by cancer, who declined predictive genetic testing. Here, we analyse the data provided by 20 participants who unequivocally declined testing...
February 20, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29450672/response-to-letter-to-editor-regarding-published-article-metachronous-colorectal-cancer-following-segmental-or-extended-colectomy-in-lynch-syndrome-a-systematic-review-and-meta-analysis
#2
LETTER
Mark P Lythgoe, Salim S Malik, Mark McPhail, Kevin J Monahan
No abstract text is available yet for this article.
February 15, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29445900/clinical-interpretation-of-pathogenic-atm-and-chek2-variants-on-multigene-panel-tests-navigating-moderate-risk
#3
Allison H West, Kathleen R Blazer, Jessica Stoll, Matthew Jones, Caroline M Weipert, Sarah M Nielsen, Sonia S Kupfer, Jeffrey N Weitzel, Olufunmilayo I Olopade
Comprehensive genomic cancer risk assessment (GCRA) helps patients, family members, and providers make informed choices about cancer screening, surgical and chemotherapeutic risk reduction, and genetically targeted cancer therapies. The increasing availability of multigene panel tests for clinical applications allows testing of well-defined high-risk genes, as well as moderate-risk genes, for which the penetrance and spectrum of cancer risk are less well characterized. Moderate-risk genes are defined as genes that, when altered by a pathogenic variant, confer a 2 to fivefold relative risk of cancer...
February 14, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29423582/a-retrospective-review-of-48-individuals-including-12-families-molecularly-diagnosed-with-hereditary-leiomyomatosis-and-renal-cell-cancer-hlrcc
#4
Priya T Bhola, Cathy Gilpin, Amanda Smith, Gail E Graham
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is caused by autosomal dominant germline mutations in the fumarate hydratase (FH) gene and is characterized by cutaneous leiomyomas, uterine leiomyomas and aggressive renal malignancies. We conducted a retrospective chart review to characterize the patients referred to our Regional Genetics Program for assessment of HLRCC from 2004 to mid-2016. Forty-eight of 69 (69.5%) referred individuals were positive for a pathogenic or likely pathogenic variant in FH; they had an average age of 39...
February 8, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29392648/the-first-two-confirmed-sub-saharan-african-families-with-germline-tp53-mutations-causing-li-fraumeni-syndrome
#5
Shelley Macaulay, Quintin Clive Goodyear, Mia Kruger, Wenlong Chen, Fahmida Essop, Amanda Krause
Li-Fraumeni syndrome is a rare inherited cancer syndrome characterised by the early onset of specific cancers. Li-Fraumeni syndrome (LFS) is associated with germline mutations in the tumour suppressor gene, TP53. This study reports the first cases of molecularly confirmed LFS germline mutations in sub-Saharan Africa. Three black African patients, all with LFS-associated cancers, were seen through the Clinical and Counselling Section of the Division of Human Genetics at the National Health Laboratory Service and University of the Witwatersrand in Johannesburg, South Africa, during 2011-2012...
February 1, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29380099/commentary-%C3%A2-premm5-threshold-of-2-5-is-recommended-to-improve-identification-of-pms2-carriers
#6
LETTER
Fay Kastrinos, Hajime Uno, Sapna Syngal
No abstract text is available yet for this article.
January 29, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29368261/apc-mosaicism-in-a-young-woman-with-desmoid-type-fibromatosis-and-familial-adenomatous-polyposis
#7
Astrid Tenden Stormorken, Thomas Berg, Ole-Jacob Norum, Toto Hølmebakk, Kristin Aaberg, Sonja E Steigen, Eli Marie Grindedal
Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas and desmoids. Most desmoid tumours in FAP patients occur intra-abdominally. Approximately 15-20% of the APC mutations are de novo mutations...
January 24, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29368260/risk-management-adherence-following-genetic-testing-for-hereditary-cancer-syndromes-a-singaporean-experience
#8
Eliza Courtney, Xin Wei Chin, Jeanette Yuen, Shao-Tzu Li, Yanni Chen, John Carson Allen, Veronique Tan, Geok Hoon Lim, Joanne Ngeow
Assessing adherence behavior among mutation carriers to cancer risk management guidelines is important for both service improvement and cost-effectiveness analyses, but such real-world data is often lacking. The present study aims to report adherence rates among mutation carriers in a recently established cancer genetics program in Singapore. We conducted a medical chart review of mutation carriers who had attended for genetic counseling and gathered data regarding risk management behavior, including cancer surveillance and/or risk-reducing surgery, and cancers subsequently detected...
January 24, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29356994/mutations-in-sufu-and-ptch1-genes-may-cause-different-cutaneous-cancer-predisposition-syndromes-similar-but-not-the-same
#9
A J Huq, M Walsh, B Rajagopalan, M Finlay, A H Trainer, F Bonnet, N Sevenet, I M Winship
Many cancer predisposition syndromes are preceded or accompanied by a range of typical skin signs. Gorlin syndrome is a rare multisystem inherited disorder which can predispose to basal cell carcinomas (BCCs), childhood medulloblastomas in addition to various developmental abnormalities; the majority of cases are due to mutations in the PTCH1 gene. Approximately 5% of cases have been attributed to a mutation in the SUFU gene. Certain phenotypic features have been identified as being more prevalent in individuals with a SUFU mutation such as childhood medulloblastoma, infundibulocystic BCCs and trichoepitheliomas...
January 22, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29330737/letter-to-the-editor
#10
LETTER
C C Anele, A Latchford, O Faiz, S K Clark
No abstract text is available yet for this article.
January 12, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29302811/gene-expression-analysis-in-peripheral-blood-cells-of-patients-with-hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome-hlrcc-identification-of-nrf2-pathway-activation
#11
Carolina Arenas Valencia, Liliana Lopez Kleine, Andres M Pinzon Velasco, Andrea Y Cardona Barreto, Clara E Arteaga Diaz
Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is a very rare disease that is inherited in an autosomal dominant manner. Affected patients may develop from cutaneous and uterine leiomyomas to type 2 papillary renal cell carcinoma (Schmidt and Linehan, Int J Nephrol Renovasc Dis 7:253-260, 2014). HLRCC is caused by germline mutations in the FH gene, which produces the fumarate hydratase protein that participates in the tricarboxylic acid cycle during the conversion of fumarate to malate. In FH-deficient cells, high concentrations of fumarate lead to a series of intricate events, which seem to be responsible for the malignant transformation (Yang et al...
January 4, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29288294/haplotype-analysis-suggest-that-the-mlh1-c-2059c%C3%A2-%C3%A2-t-mutation-is-a-swedish-founder-mutation
#12
Jenny von Salomé, Tao Liu, Markku Keihäs, Moni Morak, Elke Holinski-Feder, Ian R Berry, Jukka S Moilanen, Stéphanie Baert-Desurmont, Annika Lindblom, Kristina Lagerstedt-Robinson
Lynch syndrome (LS) predisposes to a spectrum of cancers and increases the lifetime risk of developing colorectal- or endometrial cancer to over 50%. Lynch syndrome is dominantly inherited and is caused by defects in DNA mismatch-repair genes MLH1, MSH2, MSH6 or PMS2, with the vast majority detected in MLH1 and MSH2. Recurrent LS-associated variants observed in apparently unrelated individuals, have either arisen de novo in different families due to mutation hotspots, or are inherited from a founder (a common ancestor) that lived several generations back...
December 29, 2017: Familial Cancer
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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