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Hereditary genetic susceptibility to cancer

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https://www.readbyqxmd.com/read/29868112/complex-landscape-of-germline-variants-in-brazilian-patients-with-hereditary-and-early-onset-breast-cancer
#1
Giovana T Torrezan, Fernanda G Dos Santos R de Almeida, Márcia C P Figueiredo, Bruna D de Figueiredo Barros, Cláudia A A de Paula, Renan Valieris, Jorge E S de Souza, Rodrigo F Ramalho, Felipe C C da Silva, Elisa N Ferreira, Amanda F de Nóbrega, Paula S Felicio, Maria I Achatz, Sandro J de Souza, Edenir I Palmero, Dirce M Carraro
Pathogenic variants in known breast cancer (BC) predisposing genes explain only about 30% of Hereditary Breast Cancer (HBC) cases, whereas the underlying genetic factors for most families remain unknown. Here, we used whole-exome sequencing (WES) to identify genetic variants associated to HBC in 17 patients of Brazil with familial BC and negative for causal variants in major BC risk genes ( BRCA1/2, TP53 , and CHEK2 c.1100delC). First, we searched for rare variants in 27 known HBC genes and identified two patients harboring truncating pathogenic variants in ATM and BARD1 ...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29859499/prevalence-of-hereditary-cancer-susceptibility-syndromes-in-children-with-cancer-in-a-highly-consanguineous-population
#2
Wasil Jastaniah, Abdullah Aljefri, Mouhab Ayas, Musa Alharbi, Nawaf Alkhayat, Faisal Al-Anzi, Fawwaz Yassin, Fawaz Alkasim, Qasim Alharbi, Shaker Abdullah, Mohammed Burhan Abrar, Abdulrahman Alsultan
BACKGROUND & AIM: Hereditary cancer susceptibility syndromes (HCSS) are reported in up to one-third of children with cancer. Diagnosis of HCSS is crucial for implementation of surveillance protocols. We identified children who fulfilled criteria for HCSS in Saudi Arabia using the American College of Medical Genetics and Genomics (ACMG) guidelines, addressing the utility of these guidelines in a highly consanguineous population. METHODS: This multi-center cross-sectional study recruited 1858 children with cancer between January 2011 and December 2014...
May 30, 2018: Cancer Epidemiology
https://www.readbyqxmd.com/read/29752319/misdiagnosis-of-li-fraumeni-syndrome-in-a-patient-with-clonal-hematopoiesis-and-a-somatic-tp53-mutation
#3
Rachel L Mitchell, Cory Kosche, Kelly Burgess, Shreya Wadhwa, Lela Buckingham, Ritu Ghai, Jacob Rotmensch, Oleksandra Klapko, Lydia Usha
Li-Fraumeni syndrome (LFS) is a rare genetic disorder that confers a high risk of developing certain malignancies at a young age. It is caused by germline mutations in the TP53 gene and is typically diagnosed by sequencing this gene in blood cells. The presence of a mutation in approximately half of the DNA reads (allelic fraction of 50%) is an indicator of a germline mutation, such as that in LFS. Clonal hematopoiesis (CH) is an expansion of a hematopoietic clone containing a somatic driver mutation with a low allelic fraction, usually not more than 10% to 20%...
May 2018: Journal of the National Comprehensive Cancer Network: JNCCN
https://www.readbyqxmd.com/read/29740169/gain-of-function-mutations-in-dnmt3a-in-patients-with-paraganglioma
#4
Laura Remacha, Maria Currás-Freixes, Raúl Torres-Ruiz, Francesca Schiavi, Rafael Torres-Pérez, Bruna Calsina, Rocío Letón, Iñaki Comino-Méndez, Juan M Roldán-Romero, Cristina Montero-Conde, María Santos, Lucía Inglada Pérez, Guillermo Pita, María R Alonso, Emiliano Honrado, Susana Pedrinaci, Benedicto Crespo-Facorro, Antonio Percesepe, Maurizio Falcioni, Sandra Rodríguez-Perales, Esther Korpershoek, Santiago Ramón-Maiques, Giuseppe Opocher, Cristina Rodríguez-Antona, Mercedes Robledo, Alberto Cascón
PURPOSE: The high percentage of patients carrying germline mutations makes pheochromocytomas/paragangliomas the most heritable of all tumors. However, there are still cases unexplained by mutations in the known genes. We aimed to identify the genetic cause of disease in patients strongly suspected of having hereditary tumors. METHODS: Whole-exome sequencing was applied to the germlines of a parent-proband trio. Genome-wide methylome analysis, RNA-seq, CRISPR/Cas9 gene editing, and targeted sequencing were also performed...
May 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29698419/genetic-susceptibility-markers-for-a-breast-colorectal-cancer-phenotype-exploratory-results-from-genome-wide-association-studies
#5
Mala Pande, Aron Joon, Abenaa M Brewster, Wei V Chen, John L Hopper, Cathy Eng, Sanjay Shete, Graham Casey, Fredrick Schumacher, Yi Lin, Tabitha A Harrison, Emily White, Habibul Ahsan, Irene L Andrulis, Alice S Whittemore, Esther M John, Aung Ko Win, Enes Makalic, Daniel F Schmidt, Miroslaw K Kapuscinski, Heather M Ochs-Balcom, Steven Gallinger, Mark A Jenkins, Polly A Newcomb, Noralane M Lindor, Ulrike Peters, Christopher I Amos, Patrick M Lynch
BACKGROUND: Clustering of breast and colorectal cancer has been observed within some families and cannot be explained by chance or known high-risk mutations in major susceptibility genes. Potential shared genetic susceptibility between breast and colorectal cancer, not explained by high-penetrance genes, has been postulated. We hypothesized that yet undiscovered genetic variants predispose to a breast-colorectal cancer phenotype. METHODS: To identify variants associated with a breast-colorectal cancer phenotype, we analyzed genome-wide association study (GWAS) data from cases and controls that met the following criteria: cases (n = 985) were women with breast cancer who had one or more first- or second-degree relatives with colorectal cancer, men/women with colorectal cancer who had one or more first- or second-degree relatives with breast cancer, and women diagnosed with both breast and colorectal cancer...
2018: PloS One
https://www.readbyqxmd.com/read/29684080/unexpected-cancer-predisposition-gene-variants-in-cowden-syndrome-and-bannayan-riley-ruvalcaba-syndrome-patients-without-underlying-germline-pten-mutations
#6
Lamis Yehia, Ying Ni, Kaitlin Sesock, Farshad Niazi, Benjamin Fletcher, Hannah Jin Lian Chen, Thomas LaFramboise, Charis Eng
Patients with heritable cancer syndromes characterized by germline PTEN mutations (termed PTEN hamartoma tumor syndrome, PHTS) benefit from PTEN-enabled cancer risk assessment and clinical management. PTEN-wildtype patients (~50%) remain at increased risk of developing certain cancers. Existence of germline mutations in other known cancer susceptibility genes has not been explored in these patients, with implications for different medical management. We conducted a 4-year multicenter prospective study of incident patients with features of Cowden/Cowden-like (CS/CS-like) and Bannayan-Riley-Ruvalcaba syndromes (BRRS) without PTEN mutations...
April 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29665859/morphology-and-genomic-hallmarks-of-breast-tumours-developed-by-atm-deleterious-variant-carriers
#7
Anne-Laure Renault, Noura Mebirouk, Laetitia Fuhrmann, Guillaume Bataillon, Eve Cavaciuti, Dorothée Le Gal, Elodie Girard, Tatiana Popova, Philippe La Rosa, Juana Beauvallet, Séverine Eon-Marchais, Marie-Gabrielle Dondon, Catherine Dubois d'Enghien, Anthony Laugé, Walid Chemlali, Virginie Raynal, Martine Labbé, Ivan Bièche, Sylvain Baulande, Jacques-Olivier Bay, Pascaline Berthet, Olivier Caron, Bruno Buecher, Laurence Faivre, Marc Fresnay, Marion Gauthier-Villars, Paul Gesta, Nicolas Janin, Sophie Lejeune, Christine Maugard, Sébastien Moutton, Laurence Venat-Bouvet, Hélène Zattara, Jean-Pierre Fricker, Laurence Gladieff, Isabelle Coupier, Georgia Chenevix-Trench, Janet Hall, Anne Vincent-Salomon, Dominique Stoppa-Lyonnet, Nadine Andrieu, Fabienne Lesueur
BACKGROUND: The ataxia telangiectasia mutated (ATM) gene is a moderate-risk breast cancer susceptibility gene; germline loss-of-function variants are found in up to 3% of hereditary breast and ovarian cancer (HBOC) families who undergo genetic testing. So far, no clear histopathological and molecular features of breast tumours occurring in ATM deleterious variant carriers have been described, but identification of an ATM-associated tumour signature may help in patient management. METHODS: To characterise hallmarks of ATM-associated tumours, we performed systematic pathology review of tumours from 21 participants from ataxia-telangiectasia families and 18 participants from HBOC families, as well as copy number profiling on a subset of 23 tumours...
April 17, 2018: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/29545726/germline-mutations-in-hereditary-diffuse-gastric-cancer
#8
Hao Zhang, Mengmeng Feng, Yi Feng, Zhaode Bu, Ziyu Li, Shuqin Jia, Jiafu Ji
Gastric cancer is one of the leading causes of cancer-related deaths worldwide. Among which, about 1%-3% of gastric cancer patients were characterized by inherited gastric cancer predisposition syndromes, knowing as hereditary diffuse gastric cancer (HDGC). Studies reported that CDH1 germline mutations are the main cause of HDGC. With the help of rapid development of genetic testing technologies and data analysis tools, more and more researchers focus on seeking candidate susceptibility genes for hereditary cancer syndromes...
February 2018: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
https://www.readbyqxmd.com/read/29541281/cdkn2a-founder-mutation-in-pancreatic-ductal-adenocarcinoma-patients-without-cutaneous-features-of-familial-atypical-multiple-mole-melanoma-fammm-syndrome
#9
Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F Schaeffer, Daniel Renouf, Kasmintan A Schrader
Background: Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria for publicly funded genetic testing typically require the presence of a set combination of the predominant syndrome-associated cancer types in the family history.We report the identification of a CDKN2A pathogenic variant in a PDAC-prone family without the cutaneous features of multiple moles or melanoma that are characteristic of the Familial Atypical Multiple Mole Melanoma (FAMMM) Syndrome identified in a universal testing algorithm for inherited mutations in pancreatic cancer patients...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29507792/the-genetic-susceptibility-in-the-development-of-malignant-pleural-mesothelioma
#10
REVIEW
Ombretta Melaiu, Federica Gemignani, Stefano Landi
Malignant pleural mesothelioma (MPM) is a cancer of the pleural cavity whose main risk factor is exposure to asbestos. However, it has been shown that only a minority of exposed people develops MPM. In fact, the incidence among professionally exposed workers was shown to vary between 0.5% and 18.0%. Various hints suggested that other important cofactors could play a role, in particular the genetic susceptibility. Impressive is the case of Cappadocians families exposed to erionite and affected by an "epidemic" of MPM with about half of the inhabitants dying for the disease...
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29505604/hereditary-cancer-genes-are-highly-susceptible-to-splicing-mutations
#11
Christy L Rhine, Kamil J Cygan, Rachel Soemedi, Samantha Maguire, Michael F Murray, Sean F Monaghan, William G Fairbrother
Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations mapping to the canonical 5' and 3' splice sites. However, splicing mutations present in exons and deeper intronic positions are vastly underreported. A recent re-analysis of coding mutations in exon 10 of the Lynch Syndrome gene, MLH1, revealed an extremely high rate (77%) of mutations that lead to defective splicing. This finding is confirmed by extending the sampling to five other exons in the MLH1 gene...
March 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29500626/a-clinical-decision-support-tool-to-predict-cancer-risk-for-commonly-tested-cancer-related-germline-mutations
#12
Danielle Braun, Jiabei Yang, Molly Griffin, Giovanni Parmigiani, Kevin S Hughes
The rapid drop in the cost of DNA sequencing led to the availability of multi-gene panels, which test 25 or more cancer susceptibility genes for a low cost. Clinicians and genetic counselors need a tool to interpret results, understand risk of various cancers, and advise on a management strategy. This is challenging as there are multiple studies regarding each gene, and it is not possible for clinicians and genetic counselors to be aware of all publications, nor to appreciate the relative accuracy and importance of each...
March 2, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29458332/identification-of-genetic-variants-for-clinical-management-of-familial-colorectal-tumors
#13
Mev Dominguez-Valentin, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
BACKGROUND: The genetic mechanisms for families who meet the clinical criteria for Lynch syndrome (LS) but do not carry pathogenic variants in the mismatch repair (MMR) genes are still undetermined. We aimed to study the potential contribution of genes other than MMR genes to the biological and clinical characteristics of Norwegian families fulfilling Amsterdam (AMS) criteria or revised Bethesda guidelines. METHODS: The Hereditary Cancer Biobank of the Norwegian Radium Hospital was interrogated to identify individuals with a high risk of developing colorectal cancer (CRC) for whom no pathogenic variants in MMR genes had been found in routine diagnostic DNA sequencing...
February 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29454559/update-on-hereditary-colorectal-cancer-improving-the-clinical-utility-of-multigene-panel-testing
#14
REVIEW
Marie Lorans, Eryn Dow, Finlay A Macrae, Ingrid M Winship, Daniel D Buchanan
Colorectal cancer (CRC), one of the most common cancers, is a major public health issue globally, especially in Westernized countries. Up to 35% of CRCs are thought to be due to heritable factors, but currently only 5% to 10% of CRCs are attributable to high-risk mutations in known CRC susceptibility genes, predominantly the mismatch repair genes (Lynch syndrome) and adenomatous polyposis coli gene (APC; familial adenomatous polyposis). In this era of precision medicine, high-risk mutation carriers, when identified, can be offered various risk management options that prevent cancers and improve survival, including risk-reducing medication, screening for early detection, and surgery...
January 11, 2018: Clinical Colorectal Cancer
https://www.readbyqxmd.com/read/29360161/germline-mutation-prevalence-in-individuals-with-pancreatic-cancer-and-a-history-of-previous-malignancy
#15
Beth Dudley, Eve Karloski, Federico A Monzon, Aatur D Singhi, Stephen E Lincoln, Nathan Bahary, Randall E Brand
BACKGROUND: Approximately 10% of pancreatic adenocarcinoma (PC) cases are attributed to hereditary causes. Individuals with PC and a personal history of another cancer associated with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) may be more likely to carry germline mutations. METHODS: Participants with PC and a history of cancer were selected from a pancreatic disease registry. Of 1296 individuals with PC, 149 had a relevant history of cancer...
April 15, 2018: Cancer
https://www.readbyqxmd.com/read/29356578/no-evidence-for-the-pathogenicity-of-the-brca2-c-6937-594t-g-deep-intronic-variant-a-case-control-analysis
#16
Julie Dutil, Lenin Godoy, Rafael Rivera-Lugo, Nelly Arroyo, Elinette Albino, Luis Negrón, Alvaro N Monteiro, Jaime L Matta, Miguel Echenique
BACKGROUND: The role of deep intronic variants in hereditary cancer susceptibility has been largely understudied. Previously, the BRCA2 c.6937 + 594T>G variant has been shown to preferentially promote the inclusion of a 95 nucleotide cryptic exon and to introduce a premature termination codon. Our objective was to further assess the pathogenicity of the BRCA2 c.6937 + 594T>G deep intronic variant. PATIENTS AND METHODS: We examined the association between BRCA2 c...
February 2018: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/29341116/rare-missense-mutations-in-recql-and-polg-associate-with-inherited-predisposition-to-breast-cancer
#17
Anna Tervasmäki, Tuomo Mantere, Jaana M Hartikainen, Saila Kauppila, Hang-Mao Lee, Susanna Koivuluoma, Mervi Grip, Peeter Karihtala, Arja Jukkola-Vuorinen, Arto Mannermaa, Robert Winqvist, Katri Pylkäs
Several known breast cancer susceptibility genes with moderate-to-high risk alleles encode proteins involved in DNA damage response (DDR). As these explain less than half of the hereditary breast cancer cases, additional predisposing alleles are likely to be discovered. Many of the previous studies utilizing massive parallel sequencing have focused on the protein-truncating variants, and the role of rare missense mutations has remained poorly addressed. In order to identify novel susceptibility factors, we have systematically analyzed the data from our parallel sequencing of 796 DDR genes in 189 Northern Finnish hereditary breast cancer patients for rare missense variants, predicted as deleterious...
January 17, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29204810/high-risk-palliative-care-patients-knowledge-and-attitudes-about-hereditary-cancer-testing-and-dna-banking
#18
John M Quillin, Oluwabunmi Emidio, Brittany Ma, Lauryn Bailey, Thomas J Smith, In Guk Kang, Brandon J Yu, Oluwafemi Patrick Owodunni, Mohammed Abusamaan, Rab Razzak, Joann N Bodurtha
Even at the end of life, testing cancer patients for inherited susceptibility may provide life-saving information to their relatives. Prior research suggests palliative care inpatients have suboptimal understanding of genetic importance, and testing may be underutilized in this clinical setting. These conclusions are based on limited research. This study aimed to estimate genetic testing prevalence among high-risk palliative care patients in a National Cancer Institute-designated comprehensive cancer center...
December 4, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29179257/is-the-fshr-2039a-g-variant-associated-with-susceptibility-to-testicular-germ-cell-cancer
#19
A K Bang, A S Busch, K Almstrup, J Gromoll, S Kliesch, E Rajpert-De Meyts, N E Skakkebaek, A Juul, F Tüttelmann, N Jørgensen
Testicular germ cell cancer (TGCC) is derived from germ cell neoplasia in situ (GCNIS), which arises due to niche disturbances affecting the Sertoli cells. It is believed that exogenous endocrine factors have a crucial role in governing neoplastic transformation but on a strong hereditary background. Follicle-stimulating hormone (FSH) is the major regulatory hormone of the Sertoli cells. FSH signalling-related single-nucleotide polymorphisms (SNPs) have previously been shown to affect FSH action in men at different levels...
January 2018: Andrology
https://www.readbyqxmd.com/read/29166932/bap1-case-report-and-insight-into-a-novel-tumor-suppressor
#20
Kanad Ghosh, Badri Modi, William D James, Brian C Capell
BACKGROUND: BRCA1-Associated-Protein 1 (BAP1) is a dynamic tumor suppressor which, when mutated, has been associated with an increased risk of uveal melanoma, cutaneous melanoma, mesothelioma, and several other cancers. Germline BAP1 mutations have been extensively studied, where they have been found to cause hereditary cancer susceptibility. However, their sporadic counterparts, tumors that display a loss of BAP1 expression due to somatically arising mutations in the BAP1 gene, remain a poorly described entity...
November 22, 2017: BMC Dermatology
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