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Hereditary genetic susceptibility to cancer

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https://www.readbyqxmd.com/read/27899188/familial-prostate-cancer
#1
Veda N Giri, Jennifer L Beebe-Dimmer
Prostate cancer is the most commonly diagnosed cancer among men in the United States as well as most Western countries. A significant proportion of men report having a positive family history of prostate cancer in a first-degree relative (father, brother, son), which is important in that family history is one of the only established risk factors for the disease and plays a role in decision-making for prostate cancer screening. Familial aggregation of prostate cancer is considered a surrogate marker of genetic susceptibility to developing the disease, but shared environment cannot be excluded as an explanation for clustering of cases among family members...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899187/genetic-predisposition-to-gastric-cancer
#2
REVIEW
Iva Petrovchich, James M Ford
Gastric cancer ranks as the third leading cause of cancer mortality worldwide and confers a 5-year survival of 20%. While most gastric cancers are sporadic, ~1%-3% can be attributed to inherited cancer predisposition syndromes. Germline E-cadherin/CDH1 mutations have been identified in families with an autosomal dominant inherited predisposition to diffuse gastric cancer. The cumulative risk of gastric cancer for CDH1 mutation carriers by age 80 years is reportedly 70% for men and 56% for women. Female mutation carriers also have an estimated 42% risk for developing lobular breast cancer by age 80 years...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899183/updates-on-breast-cancer-genetics-clinical-implications-of-detecting-syndromes-of-inherited-increased-susceptibility-to-breast-cancer
#3
REVIEW
Erin F Cobain, Kara J Milliron, Sofia D Merajver
Since the initial discovery that pathogenic germline alterations in BRCA 1/2 increase susceptibility to breast and ovarian cancer, many additional genes have now been discovered that also increase breast cancer risk. Given that several more genes have now been implicated in hereditary breast cancer syndromes, there is increased clinical use of multigene panel testing to evaluate patients with a suspected genetic predisposition to breast cancer. While this is most certainly a cost-effective approach, broader testing strategies have resulted in a higher likelihood of identifying moderate-penetrance genes, for which management guidelines regarding breast cancer risk reduction have not been firmly established...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27888432/candidate-predisposing-germline-copy-number-variants-in-early-onset-colorectal-cancer-patients
#4
A J Brea-Fernandez, C Fernandez-Rozadilla, M Alvarez-Barona, D Azuara, M M Ginesta, J Clofent, L de Castro, D Gonzalez, M Andreu, X Bessa, X Llor, R Xicola, R Jover, A Castells, S Castellvi-Bel, G Capella, A Carracedo, C Ruiz-Ponte
PURPOSE: A great proportion of the heritability of colorectal cancer (CRC) still remains unexplained, and rare variants, as well as copy number changes, have been proposed as potential candidates to explain the so-called 'missing heritability'. We aimed to identify rare high-to-moderately penetrant copy number variants (CNVs) in patients suspected of having hereditary CRC due to an early onset. METHODS/PATIENTS: We have selected for genome-wide copy number analysis, 27 MMR-proficient early onset CRC patients (<50 years) without identifiable germline mutations in Mendelian genes related to this phenotype...
November 25, 2016: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/27819754/urological-cancer-related-to-familial-syndromes
#5
Walter Henriques da Costa, George Jabboure, Isabela Werneck da Cunha
Cancer related to hereditary syndromes corresponds to approximately 5-10% of all tumors. Among those from the genitourinary system, many tumors had been identified to be related to genetic syndromes in the last years with the advent of new molecular genetic tests. New entities were described or better characterized, especially in kidney cancer such as hereditary leiomyomatosis renal cell carcinoma (HLRCC), succinate de¬hydrogenase kidney cancer (SDH-RCC), and more recently BAP1 germline mutation re¬lated RCC...
November 2, 2016: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/27798748/revisiting-breast-cancer-patients-who-previously-tested-negative-for-brca-mutations-using-a-12-gene-panel
#6
Olivia Moran, Dina Nikitina, Robert Royer, Aletta Poll, Kelly Metcalfe, Steven A Narod, Mohammad R Akbari, Joanne Kotsopoulos
PURPOSE: BRCA mutations contribute to about 20% of all hereditary breast cancers. With full-genome sequencing as the emerging standard for genetic testing, other breast cancer susceptibility genes have been identified and may collectively contribute to up to 30% of all hereditary breast cancers. We re-assessed women who had previously tested negative for a BRCA mutation when outdated techniques were used, and discuss the implications of identifying a mutation several years after initial genetic testing...
October 31, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27782108/whole-exome-sequencing-of-finnish-hereditary-breast-cancer-families
#7
Kirsi Määttä, Tommi Rantapero, Anna Lindström, Matti Nykter, Minna Kankuri-Tammilehto, Satu-Leena Laasanen, Johanna Schleutker
A remarkable proportion of factors causing genetic predisposition to breast cancer (BC) are unknown in non-BRCA1/2 families. Exome sequencing was performed for 13 high-risk Finnish hereditary breast and/or ovarian cancer (HBOC) families to detect variants contributing to BC susceptibility. After filtering, 18 candidate variants in DNA damage response (DDR) pathway genes were screened in 129 female HBOC patients, up to 989 female controls, and 31 breast tumours by Sanger sequencing/TaqMan assays. In addition, two variants were further studied in 49 male BC patients and 909 male controls...
October 26, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27613130/defining-the-influence-of-germline-variation-on-metastasis-using-systems-genetics-approaches
#8
M Lee, N P S Crawford
Cancer is estimated to be responsible for 8 million deaths worldwide and over half a million deaths every year in the United States. The majority of cancer-related deaths in solid tumors is directly associated with the effects of metastasis. While the influence of germline factors on cancer risk and development has long been recognized, the contribution of hereditary variation to tumor progression and metastasis has only gained acceptance more recently. A variety of approaches have been used to define how hereditary variation influences tumor progression and metastasis...
2016: Advances in Cancer Research
https://www.readbyqxmd.com/read/27516001/multiple-primary-tumors-in-a-family-with-li-fraumeni-syndrome-with-a-tp53-germline-mutation-identified-by-next-generation-sequencing
#9
Valentina Zampiga, Rita Danesi, Gianluca Tedaldi, Michela Tebaldi, Ilaria Cangini, Francesca Pirini, Cristina Pittureri, Elena Amaducci, Luciano Guidi, Marina Faedi, Dino Amadori, Fabio Falcini, Daniele Calistri
Li-Fraumeni syndrome (LFS) is an autosomal dominant disorder occurring at a young age that predisposes individuals to multiple forms of cancer and to a heterogeneous spectrum of malignancies. We describe the clinical history of a patient who had 5 primary malignant cancers and a familiar history consistent with LFS. We analyzed the genomic DNA of the proband and her relatives by next-generation sequencing (NGS) technology using an enrichment protocol for the simultaneous sequencing of 94 genes involved in hereditary cancers...
August 5, 2016: International Journal of Biological Markers
https://www.readbyqxmd.com/read/27401692/multi-gene-panel-testing-for-hereditary-cancer-susceptibility-in-a-rural-familial-cancer-program
#10
David J Hermel, Wendy C McKinnon, Marie E Wood, Marc S Greenblatt
This study explores our Familial Cancer Program's experience implementing multi-gene panel testing in a largely rural patient population. We conducted a retrospective review of patients undergoing panel testing between May 2011 and August 2015. Our goal was to evaluate factors that might be predictors of identifying variants (pathogenic or uncertain significance) and to assess clinical management changes due to testing. We utilized a structured family history tool to determine the significance of patient's family histories with respect to identification of genetic variants...
July 11, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27325824/factors-forming-the-brca1-a-complex-orchestrate-brca1-recruitment-to-the-sites-of-dna-damage
#11
REVIEW
Joonyoung Her, Nam Soo Lee, Yonghwan Kim, Hongtae Kim
Sustaining genomic integrity is essential for preventing onset of cancers. Therefore, human cells evolve to have refined biological pathways to defend genetic materials from various genomic insults. DNA damage response and DNA repair pathways essential for genome maintenance are accomplished by cooperative executions of multiple factors including breast cancer type 1 susceptibility protein (BRCA1). BRCA1 is initially identified as an altered gene in the hereditary breast cancer patients. Since then, tremendous efforts to understand the functions of BRAC1 reveal that BRCA1 is found in distinct complexes, including BRCA1-A, BRCA1-B, BRCA1-C, and the BRCA1/PALB2/BRCA2 complex, and plays diverse roles in a context-dependent manner...
July 2016: Acta Biochimica et Biophysica Sinica
https://www.readbyqxmd.com/read/27315065/health-care-disparities-in-hereditary-ovarian-cancer-are-we-reaching-the-underserved-population
#12
REVIEW
Thomas C Randall, Katrina Armstrong
Ovarian cancer is an uncommon but deadly disease. There is no effective screening for the disease, and the majority of women with ovarian cancer present in advanced stage and eventually die from their disease. The majority of families with multiple cases of breast and ovarian cancer are found to carry germline mutations in BRCA1/2. Recent, more sensitive sequencing techniques have shown that nearly 20 % of ovarian cancer is associated with germline mutations in cancer susceptibility genes, with approximately 15 % accounted for by deleterious mutations in BRCA1/2...
August 2016: Current Treatment Options in Oncology
https://www.readbyqxmd.com/read/27275666/self-reported-cancer-family-history-is-a-useful-tool-for-identification-of-individuals-at-risk-of-hereditary-cancer-predisposition-syndrome-at-primary-care-centers-in-middle-income-settings-a-longitudinal-study
#13
Milena Flória-Santos, Luís Carlos Lopes-Júnior, Larissa de Melo Alvarenga, Mayara Segundo Ribeiro, Victor Evangelista de Faria Ferraz, Lucila Castanheira Nascimento, Gabriela Pereira-da-Silva
Analysis of cancer family history (CFH) offers a low-cost genetic tool to identify familial cancer predisposition. In middle-income settings, the scarcity of individual records and database-linked records hinders the assessment of self-reported CFH consistency as an indicator of familial cancer predisposition. We used self-reported CFH to identify those families at risk for hereditary cancer syndromes in community-based primary care centers of a low-income Brazilian area. We also evaluated the consistency of the information collected by reassessing CFH five years later...
June 3, 2016: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/27265304/genetic-testing-for-hereditary-breast-cancer-in-asia-moving-forward
#14
Ava Kwong
Genetic screening for hereditary breast and ovarian cancer (HBOC) has gained much attention for the past decades. With the development of advanced sequencing technology, other novel breast cancer associated susceptibility genes, other than BRCA genes, have been identified recently. The prevalence of BRCA mutation is known to be different in the West and in the East, therefore it is important to understand the mutation spectrum locally and in Asia to improve early diagnosis and clinical management of hereditary breast cancer in the region...
June 2016: Chinese Clinical Oncology
https://www.readbyqxmd.com/read/27249773/how-far-do-we-go-with-genetic-evaluation-gene-panel-and-tumor-testing
#15
Filipa Lynce, Claudine Isaacs
The traditional model by which an individual was identified as harboring a hereditary susceptibility to cancer was to test for a mutation in a single gene or a finite number of genes associated with a particular syndrome (e.g., BRCA1 and BRCA2 for hereditary breast and ovarian cancer or mismatch repair genes for Lynch syndrome). The decision regarding which gene or genes to test for was based on a review of the patient's personal medical history and their family history. With advances in next-generation DNA sequencing technology, offering simultaneous testing for multiple genes associated with a hereditary susceptibility to cancer is now possible...
2016: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/27229687/importance-of-hereditary-and-selected-environmental-risk-factors-in-the-etiology-of-inflammatory-breast-cancer-a-case-comparison-study
#16
Roxana Moslehi, Elizabeth Freedman, Nur Zeinomar, Carmela Veneroso, Paul H Levine
BACKGROUND: To assess the importance of heredity in the etiology of inflammatory breast cancer (IBC), we compared IBC patients to several carefully chosen comparison groups with respect to the prevalence of first-degree family history of breast cancer. METHODS: IBC cases (n = 141) were compared to non-inflammatory breast cancer cases (n = 178) ascertained through George Washington University (GWU) with respect to the prevalence of first-degree family history of breast cancer and selected environmental/lifestyle risk factors for breast cancer...
2016: BMC Cancer
https://www.readbyqxmd.com/read/27226120/a-review-of-whole-exome-sequencing-efforts-toward-hereditary-breast-cancer-susceptibility-gene-discovery
#17
REVIEW
Madison R Chandler, Erin P Bilgili, Nancy D Merner
Inherited genetic risk factors contribute toward breast cancer (BC) onset. BC risk variants can be divided into three categories of penetrance (high, moderate, and low) that reflect the probability of developing the disease. Traditional BC susceptibility gene discovery approaches that searched for high- and moderate-risk variants in familial BC cases have had limited success; to date, these risk variants explain only ∼30% of familial BC cases. Next-generation sequencing technologies can be used to search for novel high and moderate BC risk variants, and this manuscript reviews 12 familial BC whole-exome sequencing efforts...
September 2016: Human Mutation
https://www.readbyqxmd.com/read/27217714/association-of-primary-open-angle-glaucoma-with-mitochondrial-variants-and-haplogroups-common-in-african-americans
#18
David W Collins, Harini V Gudiseva, Benjamin Trachtman, Anita S Bowman, Anna Sagaser, Prithvi Sankar, Eydie Miller-Ellis, Amanda Lehman, Victoria Addis, Joan M O'Brien
PURPOSE: To estimate the population frequencies of all common mitochondrial variants and ancestral haplogroups among 1,999 subjects recruited for the Primary Open-Angle African American Glaucoma Genetics (POAAGG) Study, including 1,217 primary open-angle glaucoma (POAG) cases and 782 controls, and to identify ancestral subpopulations and mitochondrial mutations as potential risk factors for POAG susceptibility. METHODS: Subject classification by characteristic glaucomatous optic nerve findings and corresponding visual field defects, as defined by enrolling glaucoma specialists, stereo disc photography, phlebotomy, extraction of total DNA from peripheral blood or saliva, DNA quantification and normalization, PCR amplification of whole mitochondrial genomes, Ion Torrent deep semiconductor DNA sequencing on DNA pools ("Pool-seq"), Sanger sequencing of 3,479 individual mitochondrial DNAs, and bioinformatic analysis...
2016: Molecular Vision
https://www.readbyqxmd.com/read/27192130/hereditary-cancer-risk-assessment-insights-and-perspectives-for-the-next-generation-sequencing-era
#19
Israel Gomy, Maria Del Pilar Estevez Diz
Hereditary cancer risk assessment is a multidisciplinary and dynamic process, with the purpose of estimating probabilities of germline mutations in cancer susceptibility genes and assessing empiric risks of cancer based on personal and family histories, in order to offer clinical and molecular diagnoses and clinical management based on these risks. Genetic tests are available and most of them are reimbursed by insurance companies, although they are generally not covered by the public health systems of developing countries...
May 13, 2016: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/27183258/the-2015-nobel-prize-in-chemistry-the-discovery-of-essential-mechanisms-that-repair-dna-damage
#20
Tomas Lindahl, Paul Modrich, Aziz Sancar
The Royal Swedish Academy awarded the Nobel Prize in Chemistry for 2015 to Tomas Lindahl, Paul Modrich and Aziz Sancar for their discoveries in fundamental mechanisms of DNA repair. This pioneering research described three different essential pathways that correct DNA damage, safeguard the integrity of the genetic code to ensure its accurate replication through generations, and allow proper cell division. Working independently of each other, Tomas Lindahl, Paul Modrich and Aziz Sancar delineated the mechanisms of base excision repair, mismatch repair and nucleotide excision repair, respectively...
2016: Journal of the Association of Genetic Technologists
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