journal
MENU ▼
Read by QxMD icon Read
search

Hereditary Cancer in Clinical Practice

journal
https://www.readbyqxmd.com/read/27777639/differences-in-neuropsychological-and-behavioral-parameters-and-brain-structure-in-patients-with-familial-adenomatous-polyposis-a-sibling-paired-study
#1
Ana Sánchez Azofra, Trilokesh D Kidambi, Rita J Jeremy, Peggy Conrad, Amie Blanco, Megan Myers, James Barkovich, Jonathan P Terdiman
BACKGROUND: Familial adenomatous polyposis (FAP) is an autosomal dominant hereditary colon cancer syndrome caused by mutations in adenomatous polyposis coli (APC) with both colonic and extra-colonic manifestations. Case reports have noted an association with FAP and intellectual disability and animal studies have shown that APC is implicated in neural development and function, but no studies have investigated neuropsychological, behavioral, or structural brain characteristics of patients with FAP...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27708748/prevalence-of-the-chek2-r95-germline-mutation
#2
Stian Knappskog, Beryl Leirvaag, Liv B Gansmo, Pål Romundstad, Kristian Hveem, Lars Vatten, Per E Lønning
BACKGROUND: While germline CHEK2 mutations have been linked to a moderately elevated cancer risk, to date, a limited number of such mutations have been identified. Recently, we reported a germline nonsense mutation (C283T; R95*), introducing an early stop-codon, in two Norwegian patients diagnosed with locally advanced breast cancer. Both patients were resistant to anthracycline therapy, resembling what has been observed for TP53 mutations. METHODS: In the present study, we screened a large population based sample, including 3748 non-cancer individuals and 7081 incident cancer cases (breast cancer, n = 1717; prostate cancer n = 2501, lung cancer n = 1331 and colorectal cancer n = 1532), for the distribution of CHEK2 R95*...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27602174/two-novel-sequence-variants-in-msh2-gene-in-a-patient-who-underwent-cancer-genetic-counseling-for-a-very-early-onset-epithelial-ovarian-cancer
#3
Matilde Pensabene, Caterina Condello, Chiara Carlomagno, Sabino De Placido, Raffaella Liccardo, Francesca Duraturo
BACKGROUND: Early-onset or hereditary ovarian cancer is mostly associated with BRCA1 or BRCA2 mutations. Mismatch repair genes sequence alteration frequently cause colorectal cancer, and, in less extent, other tumors, such as ovarian cancer. Subjects with personal and/or family history suggestive for hereditary cancer should be addressed to cancer genetic counseling, aimed to the identification, definition and management of hereditary cancer syndrome, by a multidisciplinary approach. CASE PRESENTATION: A woman with a very early onset epithelial ovarian cancer underwent to cancer genetic counseling and genetic testing...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27555886/cytotoxic-and-targeted-therapy-for-hereditary-cancers
#4
REVIEW
Aglaya G Iyevleva, Evgeny N Imyanitov
There is a number of drugs demonstrating specific activity towards hereditary cancers. For example, tumors in BRCA1/2 mutation carriers usually arise via somatic inactivation of the remaining BRCA allele, which makes them particularly sensitive to platinum-based drugs, PARP inhibitors (PARPi), mitomycin C, liposomal doxorubicin, etc. There are several molecular assays for BRCA-ness, which permit to reveal BRCA-like phenocopies among sporadic tumors and thus extend clinical indications for the use of BRCA-specific therapies...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27508007/pedigree-based-dna-sequencing-pipeline-for-germline-genomes-of-cancer-families
#5
Asta Försti, Abhishek Kumar, Nagarajan Paramasivam, Matthias Schlesner, Calogerina Catalano, Dagmara Dymerska, Jan Lubinski, Roland Eils, Kari Hemminki
BACKGROUND: In the course of our whole-genome sequencing efforts, we have developed a pipeline for analyzing germline genomes from Mendelian types of cancer pedigrees (familial cancer variant prioritization pipeline, FCVPP). RESULTS: The variant calling step distinguishes two types of genomic variants: single nucleotide variants (SNVs) and indels, which undergo technical quality control. Mendelian types of variants are assumed to be rare and variants with frequencies higher that 0...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27437068/syndromic-gastrointestinal-stromal-tumors
#6
REVIEW
Riccardo Ricci
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of gastrointestinal tract. They feature heterogeneous triggering mechanisms, implying relevant clinical differences. The vast majority of GISTs are sporadic tumors. Rarely, however, GIST-prone syndromes occur, mostly depending on heritable GIST predisposing molecular defects involving the entire organism. These conditions need to be properly identified in order to plan appropriate diagnostic, prognostic and therapeutic procedures...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27413415/a-novel-deleterious-c-2656g-t-msh2-germline-mutation-in-a-pakistani-family-with-a-phenotypic-overlap-of-hereditary-breast-and-ovarian-cancer-and-lynch-syndrome
#7
Muhammad U Rashid, Humaira Naeemi, Noor Muhammad, Asif Loya, Muhammed A Yusuf, Jan Lubiński, Anna Jakubowska, Ute Hamann
BACKGROUND: Hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS) account for a significant proportion of inherited gynecologic malignancies, mainly caused by pathogenic germline mutations in the BRCA1 and BRCA2 genes or in mismatch repair (MMR) genes, such as MLH1 and MSH2. Women harboring deleterious mutations in these genes have increased life-time risks of developing a number of malignancies including ovarian cancer. Since there is a phenotypic overlap of HBOC and LS, timely identification of individuals at-risk of a particular syndrome is crucial in order to optimize cancer risk management...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27279923/identification-of-eight-novel-sdhb-sdhc-sdhd-germline-variants-in-danish-pheochromocytoma-paraganglioma-patients
#8
Marc Bennedbæk, Maria Rossing, Åse K Rasmussen, Anne-Marie Gerdes, Anne-Bine Skytte, Uffe B Jensen, Finn C Nielsen, Thomas V O Hansen
BACKGROUND: Germline mutations in the succinate dehydrogenase complex genes SDHB, SDHC, and SDHD predispose to pheochromocytomas and paragangliomas. Here, we examine the SDHB, SDHC, and SDHD mutation spectrum in the Danish population by screening of 143 Danish pheochromocytoma and paraganglioma patients. METHODS: Mutational screening was performed by Sanger sequencing or next-generation sequencing. The frequencies of variants of unknown clinical significance, e...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27252788/implications-of-using-whole-genome-sequencing-to-test-unselected-populations-for-high-risk-breast-cancer-genes-a-modelling-study
#9
Charlotte Warren-Gash, Mark Kroese, Hilary Burton, Paul Pharoah
BACKGROUND: The decision to test for high risk breast cancer gene mutations is traditionally based on risk scores derived from age, family and personal cancer history. Next generation sequencing technologies such as whole genome sequencing (WGS) make wider population testing more feasible. In the UK's 100,000 Genomes Project, mutations in 16 genes including BRCA1 and BRCA2 are to be actively sought regardless of clinical presentation. The implications of deploying this approach at scale for patients and clinical services are unclear...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27168869/an-unusual-case-of-cowden-syndrome-associated-with-ganglioneuromatous-polyposis
#10
Steffen Pistorius, Barbara Klink, Jessica Pablik, Andreas Rump, Daniela Aust, Marlene Garzarolli, Evelin Schröck, Hans K Schackert
BACKGROUND: Ganglioneuromatous polyposis (GP) is a very rare disorder which may be associated with other clinical manifestations and syndromes, such as Cowden syndrome, multiple endocrine neoplasia (MEN) type II and neurofibromatosis (NF) 1. The risk for malignant transformation of ganglioneuromas is unknown, and the combination of GP with colon cancer has been only very seldom reported. METHODS AND RESULTS: We report the case of a 60-year old male patient with adenocarcinoma, adenomas and lipomas of the colon and multiple gastroduodenal lesions combined with generalised lipomatosis and macrocephaly...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27134689/assessing-biases-of-information-contained-in-pedigrees-for-the-classification-of-brca-genetic-variants-a-study-arising-from-the-enigma-analytical-working-group
#11
C H H Kerkhofs, A B Spurdle, P J Lindsey, D E Goldgar, E B Gómez-García
PURPOSE: One way of evaluating family history (FH) for classifying BRCA1/2 variants of uncertain clinical significance (VUS) is to assess the "BRCA-ness" of a pedigree by comparing it to reference populations. The aim of this study was to assess if prediction of BRCA pathogenic variant (mutation) status based on pedigree information differed due to changes in FH since intake, both in families with a pathogenic variant (BRCAm) and in families with wild-type (BRCAwt). PATIENTS AND METHODS: We compared the BRCA1/2 pathogenic variant detection probabilities between intake and most recent pedigree for BRCAm families (n = 64) and BRCAwt (n = 118) using the BRCAPRO software program...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27099641/palb2-research-reaching-to-clinical-outcomes-for-women-with-breast-cancer
#12
REVIEW
Melissa C Southey, Ingrid Winship, Tú Nguyen-Dumont
PALB2 has taken its place with bona fide breast cancer susceptibility genes. It is now well established that women who carry loss-of-function mutations in the PALB2 gene are at similarly elevated breast cancer risks to those who carry mutations in BRCA2. Information about PALB2 is now being used in breast cancer clinical genetics practice and is routinely included in breast cancer predisposition gene panel tests. Tens of thousands of women worldwide have now had genetic tests for PALB2 mutations in the context of breast cancer susceptibility...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27087880/intensive-breast-screening-in-brca2-mutation-carriers-is-associated-with-reduced-breast-cancer-specific-and-all-cause-mortality
#13
D G Evans, E F Harkness, A Howell, M Wilson, E Hurley, M M Holmen, K U Tharmaratnam, A I Hagen, Y Lim, A J Maxwell, P Moller
BACKGROUND: The addition of annual MRI screening to mammography has heightened optimism that intensive screening along with improved treatments may substantially improve life expectancy of women at high risk of breast cancer. However, survival data from BRCA2 mutation carriers undergoing intensive combined breast screening are scarce. METHODS: We have collated the results of screening with either annual mammography or mammography with MRI in female BRCA2 mutation carriers in Manchester and Oslo and use a Manchester control group of BRCA2 mutation carriers who had their first breast cancer diagnosed without intensive screening...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/26933466/thank-you-to-all-our-manuscript-reviewers-in-2015
#14
Jan Lubinski, Rodney J Scott, Rolf Sijmons, Sarah M Theissen
The editors of Hereditary Cancer in Clinical Practice would like to thank all our reviewers who have contributed to the journal in 2015. Without the participation of skilful reviewers, no academic journal could succeed, and we are grateful to the committed individuals who have given their time and expertise to the peer review of manuscripts for Hereditary Cancer in Clinical Practice. We look forward to your continued support in 2016.
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/26884819/when-is-a-mutation-not-a-mutation-the-case-of-the-c-594-2a-c-splice-variant-in-a-woman-harbouring-another-brca1-mutation-in-trans
#15
Michelle Wong-Brown, Mary McPhillips, Margaret Gleeson, Allan D Spigelman, Cliff J Meldrum, Susan Dooley, Rodney J Scott
Since the identification of BRCA1 there has only ever been described two bi-allelic mutation carriers, one of whom was subsequently shown to be a mono-allelic carrier. The second patient diagnosed with two BRCA1 mutations appears to be accurate but there remain some questions about the missense variant identified in that patient. In this report we have identified a woman who is a bi-allelic mutation carrier of BRCA1 and provide an explanation as to why this patient has a phenotype very similar to that of any mono-allelic mutation carrier...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/26843898/recurrent-mutations-of-brca1-brca2-and-palb2-in-the-population-of-breast-and-ovarian-cancer-patients-in-southern-poland
#16
P Wojcik, M Jasiowka, E Strycharz, M Sobol, D Hodorowicz-Zaniewska, P Skotnicki, T Byrski, P Blecharz, E Marczyk, I Cedrych, J Jakubowicz, J Lubiński, V Sopik, S Narod, P Pierzchalski
BACKGROUND: Mutations in the BRCA1, BRCA2 and PALB2 genes are well-established risk factors for the development of breast and/or ovarian cancer. The frequency and spectrum of mutations in these genes has not yet been examined in the population of Southern Poland. METHODS: We examined the entire coding sequences of the BRCA1 and BRCA2 genes and genotyped a recurrent mutation of the PALB2 gene (c.509_510delGA) in 121 women with familial and/or early-onset breast or ovarian cancer from Southern Poland...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/26807161/prognostic-factors-in-polish-patients-with-brca1-dependent-ovarian-cancer
#17
Wiktor Szatkowski, Paweł Blecharz, Jerzy W Mituś, Marek Jasiówka, Elżbieta Łuczyńska, Jerzy Jakubowicz, Tomasz Byrski
BACKGROUND: Treatment outcomes appear to be better for ovarian cancer (OC) patients carrying the BRCA1/2 germline mutation than for patients with sporadic OC. However, most published data are for North American, British and Jewish populations. There have been very few studies on treatment outcomes in Central and Eastern European patients with OC. The aim of this study was to analyse prognostic factors in Polish patients with BRCA1-dependent OC (BRCA1-OC). METHODS: The records of patients with OC treated with surgery and chemotherapy at the Centre of Oncology in Kraków, Poland, between 2004 and 2009 were reviewed...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/26779294/brca1-founder-mutations-do-not-contribute-to-increased-risk-of-gastric-cancer-in-the-polish-population
#18
Małgorzata Ławniczak, Anna Jakubowska, Andrzej Białek, Jan Lubiński, Katarzyna Jaworska-Bieniek, Katarzyna Kaczmarek, Teresa Starzyńska
BACKGROUND: Gastric cancer (GC) is part of the spectrum of diseases linked to BRCA1 and BRCA2 mutations that increase the risk of breast and ovarian cancer. Data suggesting an increased risk of developing GC among BRCA1 and BRCA2 mutation carriers are based almost exclusively on indirect studies. The objective was to assess in a direct study whether there is a relationship between GC and selected recurrent BRCA1 and BRCA2 mutations in the Polish population. METHODS: Three hundred seventeen GC patients (193 males and 124 females; mean age 59...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/26770289/association-of-polymorphisms-with-a-family-history-of-cancer-and-the-presence-of-germline-mutations-in-the-brca1-brca2-genes
#19
Gabriela C Fernandes, Rodrigo A D Michelli, Cristovam Scapulatempo-Neto, Edenir I Palmero
INTRODUCTION: Breast cancer (BC) is an important public health problem worldwide. In Brazil, breast cancer is the most frequently diagnosed tumor and the leading cause of cancer death in women. Hereditary cancer represents approximately 5 to 10 % of BC cases. Even outside the hereditary cancer context, the presence of polymorphisms acting as genetic modifiers may contribute to a better or worse prognosis. Not much is known about the hereditary BC epidemiology in Brazil or about the influence of polymorphisms on hereditary predisposition...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/26753012/clinical-features-and-outcomes-of-germline-mutation-brca1-linked-versus-sporadic-ovarian-cancer-patients
#20
Agnieszka Synowiec, Gabriel Wcisło, Lubomir Bodnar, Bohdan Górski, Jolanta Szenajch, Katarzyna Szarlej-Wcisło, Cezary Szczylik
BACKGROUND: The role of germline mutations in BRCA1 and BRCA2 genes in the risk of the development of ovarian cancer is clinically well established. BRCA1/2 testing seems to have increasing role in clinical management in patients with advanced ovarian cancer who require treatment with poly(ADP-ribose) polymerase inhibitors. METHODS: Between 2002 - 2008, 125 consecutive patients with ovarian cancer were categorized as having three founder mutations in the BRCA1 gene in Poland as: 5382insC [exon 20], 4153delA [exon 11...
2016: Hereditary Cancer in Clinical Practice
journal
journal
40820
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"