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Familial Cancer

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https://www.readbyqxmd.com/read/30368636/germline-mutation-p-n363k-in-pole-is-associated-with-an-increased-risk-of-colorectal-cancer-and-giant-cell-glioblastoma
#1
P Vande Perre, A Siegfried, C Corsini, D Bonnet, C Toulas, N Hamzaoui, J Selves, E Chipoulet, J S Hoffmann, E Uro-Coste, R Guimbaud
Germline mutations of the POLE gene are responsible for polymerase proofreading-associated polyposis syndrome (PPAP). These mutations were hypothesised to predispose to extra-gastrointestinal tumours (ovary, endometrium, brain), but this association has not been confirmed so far. We report a family with an autosomal dominant inheritance of PPAP due to a c.1089C>A; p.Asn363Lys mutation in the proofreading exonuclease domain of POLE. Ten patients presenting a history of colorectal tumours and three patients with polyposis are indexed in this family...
October 27, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30306390/cleft-lip-palate-and-hereditary-diffuse-gastric-cancer-report-of-a-family-harboring-a-cdh1-c-687-1g-a-germline-mutation-and-review-of-the-literature
#2
Florian Obermair, Melanie Rammer, Jonathan Burghofer, Theodora Malli, Anna Schossig, Katharina Wimmer, Wolfgang Kranewitter, Beate Mayrbaeurl, Hans-Christoph Duba, Gerald Webersinke
Hereditary diffuse gastric cancer (HDGC) is an autosomal-dominantly inherited cancer syndrome associated with a high risk for diffuse gastric and lobular breast cancer, caused by heterozygous CDH1 germline mutations. Of note, also cleft lip/palate (CLP) has been described in few HDGC families. Here we report on an extensive pedigree presenting with HDGC, CLP and a CDH1 splice site mutation (c.687 + 1G > A) and review the literature for families with CDH1 mutations, HDGC and CLP. Transcript analysis showed that the c...
October 10, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30302652/boosting-care-and-knowledge-about-hereditary-cancer-european-reference-network-on-genetic-tumour-risk-syndromes
#3
Janet R Vos, Lisette Giepmans, Claas Röhl, Nicoline Geverink, Nicoline Hoogerbrugge
Approximately 27-36 million patients in Europe have one of the ~ 5.000-8.000 known rare diseases. These patients often do not receive the care they need or they have a substantial delay from diagnosis to treatment. In March 2017, twenty-four European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross border healthcare, in a way that the medical knowledge and expertise travels across the borders, rather than the patients. It is expected that through the ERNs, European patients with a rare disease get access to expert care more often and more quickly, and that research and guideline development will be accelerated resulting in improved diagnostics and therapies...
October 9, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30302651/risk-of-multiple-colorectal-cancer-development-depends-on-age-and-subgroup-in-individuals-with-hereditary-predisposition
#4
Lars J Lindberg, Wia Wegen-Haitsma, Steen Ladelund, Lars Smith-Hansen, Christina Therkildsen, Inge Bernstein, Mef Nilbert
Development of multiple colorectal cancers (CRCs), synchronously or metachronously, is associated with hereditary predisposition for cancer and accurate risk estimates of multiple tumour development are relevant to recommend rational surveillance programs. A cross-sectional study design was used to estimate the risks of synchronous CRC (SCRC) and metachronous CRC (MCRC) based on data from the National Danish Hereditary Nonpolyposis Register. In total, 7100 individuals from families within the subgroups Lynch syndrome, familial CRC (FCC) and moderate risk were used with estimates relative to a non-hereditary population control cohort...
October 9, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30284660/ovarian-small-cell-carcinoma-in-one-of-a-pair-of-monozygous-twins
#5
LETTER
Somayyeh Fahiminiya, Nelly Sabbaghian, Steffen Albrecht, Javad Nadaf, Donato Callegaro-Filho, William D Foulkes
One of a pair of monozygous twins was diagnosed and died of small cell carcinoma of the ovary of hypercalcemic type (SCCOHT) at the age of 30 years. Her sister remained unaffected and was very concerned about her risk for developing SCCOHT. By performing comprehensive molecular analysis using whole exome sequencing (WES) approach, we showed that the deceased twin's tumour has bi-allelic somatic genetic defects (a pathogenic frameshift deletion in SMARCA4 and LOH on chr19p). Results of WES of constitutional DNA from her unaffected sister were confirmatory...
October 4, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30267352/referral-frequency-attrition-rate-and-outcomes-of-germline-testing-in-patients-with-pancreatic-adenocarcinoma
#6
Evan J Walker, Julia Carnevale, Christina Pedley, Amie Blanco, Salina Chan, Eric A Collisson, Margaret A Tempero, Andrew H Ko
Hereditary predisposition is estimated to account for 10% of all pancreatic cancer cases. However, referral patterns and clinical workflow for germline testing in this disease differ significantly by institution, and many at-risk patients may not undergo appropriate counseling and testing. We undertook an analysis of patients diagnosed with pancreatic cancer (PDAC) who were referred to the Clinical Genetics program of a high-volume academic center over a 3-year period to assess referral frequency, evaluate the yield of germline testing in this selected patient cohort, and elucidate the reasons individuals did not undergo recommended germline testing...
September 28, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30251170/development-and-pilot-testing-of-a-leaflet-informing-women-with-breast-cancer-about-genomic-testing-for-polygenic-risk
#7
Rajneesh Kaur, Bettina Meiser, Tatiane Yanes, Mary-Anne Young, Kristine Barlow-Stewart, Tony Roscioli, Sian Smith, Paul A James
The inclusion of polygenic risk scores in breast cancer risk prediction models provides a more personalised and accurate prediction of breast cancer risk for women with and without breast cancer, who would otherwise receive negative results from traditional testing of moderate- and high-risk genes. This study aimed to develop, and pilot test a leaflet with a sample of women participating in a large prospective cohort study. The leaflet aimed to provide information about polygenic risk to assist women to decide whether or not to learn results from genomic testing for common risk variants associated with breast cancer risk...
September 24, 2018: Familial Cancer
https://www.readbyqxmd.com/read/30251169/electronically-ascertained-extended-pedigrees-in-breast-cancer-genetic-counseling
#8
V Stefansdottir, H Skirton, O Th Johannsson, H Olafsdottir, G H Olafsdottir, L Tryggvadottir, J J Jonsson
A comprehensive pedigree, usually provided by the counselee and verified by medical records, is essential for risk assessment in cancer genetic counseling. Collecting the relevant information is time-consuming and sometimes impossible. We studied the use of electronically ascertained pedigrees (EGP). The study group comprised women (n = 1352) receiving HBOC genetic counseling between December 2006 and December 2016 at Landspitali in Iceland. EGP's were ascertained using information from the population-based Genealogy Database and Icelandic Cancer Registry...
September 24, 2018: Familial Cancer
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
#9
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
#10
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
#11
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/29961174/molecular-analysis-of-an-asbestos-exposed-belgian-family-with-a-high-prevalence-of-mesothelioma
#12
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...
October 2018: Familial Cancer
https://www.readbyqxmd.com/read/29488047/urological-sequelae-of-desmoids-associated-with-familial-adenomatous-polyposis
#13
S J Walton, G Malietzis, S K Clark, E Havranek
The aim of this retrospective cohort study was to review urological complication rates arising from familial adenomatous polyposis associated desmoid tumours and their management. All patients over a 35-year period were identified from a prospectively maintained polyposis registry database and had an intra-abdominal desmoid tumour. Those without ureteric complications (n = 118, group A) were compared to those that developed ureteric obstruction (n = 40, group B) for demographics, treatment interventions and survival outcomes...
October 2018: Familial Cancer
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
#14
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...
October 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
#15
LETTER
Mark P Lythgoe, Salim S Malik, Mark McPhail, Kevin J Monahan
No abstract text is available yet for this article.
October 2018: Familial Cancer
https://www.readbyqxmd.com/read/29445900/clinical-interpretation-of-pathogenic-atm-and-chek2-variants-on-multigene-panel-tests-navigating-moderate-risk
#16
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...
October 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
#17
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...
October 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
#18
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...
October 2018: Familial Cancer
https://www.readbyqxmd.com/read/29380099/commentary-premm5-threshold-of-2-5-is-recommended-to-improve-identification-of-pms2-carriers
#19
LETTER
Fay Kastrinos, Hajime Uno, Sapna Syngal
No abstract text is available yet for this article.
October 2018: Familial Cancer
https://www.readbyqxmd.com/read/29368261/apc-mosaicism-in-a-young-woman-with-desmoid-type-fibromatosis-and-familial-adenomatous-polyposis
#20
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...
October 2018: Familial Cancer
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