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Hereditary cancer

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https://www.readbyqxmd.com/read/27914873/determinants-and-prognostic-implications-of-malignant-ascites-in-metastatic-papillary-renal-cancer
#1
Abhinav Sidana, Meet Kadakia, Julia C Friend, Louis S Krane, Daniel Su, Maria J Merino, Ramaprasad Srinivasan
OBJECTIVE: To describe the incidence of ascites in metastatic papillary renal cell cancer (pRCC), identify the factors associated with its development and evaluate its prognostic effect on the survival of these patients. METHODS: A retrospective evaluation of the medical records of patients with metastatic pRCC seen at National Cancer Institute (2000-2014) was undertaken. Logistic regression to identify predictors of the development of malignant ascites and Kaplan-Meier analysis to estimate survival was done...
November 30, 2016: Urologic Oncology
https://www.readbyqxmd.com/read/27913932/almost-2-of-spanish-breast-cancer-families-are-associated-to-germline-pathogenic-mutations-in-the-atm-gene
#2
A Tavera-Tapia, L Pérez-Cabornero, J A Macías, M I Ceballos, G Roncador, M de la Hoya, A Barroso, V Felipe-Ponce, R Serrano-Blanch, C Hinojo, M D Miramar-Gallart, M Urioste, T Caldés, S Santillan-Garzón, J Benitez, A Osorio
PURPOSE: There is still a considerable percentage of hereditary breast and ovarian cancer (HBOC) cases not explained by BRCA1 and BRCA2 genes. In this report, next-generation sequencing (NGS) techniques were applied to identify novel variants and/or genes involved in HBOC susceptibility. METHODS: Using whole exome sequencing, we identified a novel germline mutation in the moderate-risk gene ATM (c.5441delT; p.Leu1814Trpfs*14) in a family negative for mutations in BRCA1/2 (BRCAX)...
December 2, 2016: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/27913496/discussing-and-managing-hematologic-germ-line-variants
#3
Wendy Kohlmann, Joshua D Schiffman
With the introduction of genomic technologies, more hereditary cancer syndromes with hematologic malignancies are being described. Up to 10% of hematologic malignancies in children and adults may be the result of an underlying inherited genetic risk. Managing these patients with hereditary hematologic malignancies, including familial leukemia, remains a clinical challenge because there is little information about these relatively rare disorders. This article covers some of the issues related to the diagnosis and interpretation of variants associated with hereditary hematologic malignancies, including the importance of an accurate family history in interpreting genetic variants associated with disease...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#4
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
December 2, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27910069/lkb1-as-a-tumor-suppressor-in-uterine-cancer-mouse-models-and-translational-studies
#5
Christopher G Peña, Diego H Castrillón
The LKB1 tumor suppressor was identified in 1998 as the gene mutated in the Peutz-Jeghers Syndrome (PJS), a hereditary cancer predisposition characterized by gastrointestinal polyposis and a high incidence of cancers, particularly carcinomas, at a variety of anatomic sites including the gastrointestinal tract, lung, and female reproductive tract. Women with PJS have a high incidence of carcinomas of the uterine corpus (endometrium) and cervix. The LKB1 gene is also somatically mutated in human cancers arising at these sites...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/27907203/tp53-polymorphisms-and-colorectal-cancer-risk-in-patients-with-lynch-syndrome-in-taiwan-a-retrospective-cohort-study
#6
Abram Bunya Kamiza, Ling-Ling Hsieh, Reiping Tang, Huei-Tzu Chien, Chih-Hsiung Lai, Li-Ling Chiu, Tsai-Ping Lo, Kuan-Yi Hung, Jeng-Fu You, Wen-Chang Wang, Chao A Hsiung, Chih-Ching Yeh
BACKGROUND AND AIM: TP53 encodes p53, which has a crucial role in modulating genes that regulate defense against cancer development. This study investigated whether TP53 polymorphisms are associated with colorectal cancer (CRC) in patients with Lynch syndrome and whether TP53 interacts with lifestyle factors to modify CRC risk. METHODS: We identified 260 MLH1 and MSH2 germline mutation carriers from the Taiwan Hereditary Nonpolyposis Colorectal Cancer Consortium...
2016: PloS One
https://www.readbyqxmd.com/read/27904849/medullary-thyroid-carcinoma-a-30-year-experience-at-one-institution-in-korea
#7
Cho Rok Lee, Sohee Lee, Haiyoung Son, Eunjeong Ban, Sang-Wook Kang, Jandee Lee, Jong Ju Jeong, Kee-Hyun Nam, Woong Youn Chung, Cheong Soo Park
PURPOSE: The objective of this study was to review the clinical outcome and prognosis of patients with sporadic and hereditary medullary thyroid cancer (MTC) who were treated at a single tertiary hospital in Korea. METHODS: We retrospectively reviewed the case files of 85 patients treated from August 1982 to February 2012. RESULTS: In all, 65 patients (76.5%) had sporadic MTC and 20 patients (23.5%) had hereditary MTC. Patients in the sporadic group were older than in the hereditary group (P < 0...
December 2016: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/27902461/whole-exome-sequencing-in-75-high-risk-families-with-validation-and-replication-in-independent-case-control-studies-identifies-tango2-or5h14-and-chad-as-new-prostate-cancer-susceptibility-genes
#8
Danielle M Karyadi, Milan S Geybels, Eric Karlins, Brennan Decker, Laura McIntosh, Amy Hutchinson, Suzanne Kolb, Shannon K McDonnell, Belynda Hicks, Sumit Middha, Liesel M FitzGerald, Melissa S DeRycke, Meredith Yeager, Daniel J Schaid, Stephen J Chanock, Stephen N Thibodeau, Sonja I Berndt, Janet L Stanford, Elaine A Ostrander
Prostate cancer (PCa) susceptibility is defined by a continuum from rare, high-penetrance to common, low-penetrance alleles. Research to date has concentrated on identification of variants at the ends of that continuum. Taking an alternate approach, we focused on the important but elusive class of low-frequency, moderately penetrant variants by performing disease model-based variant filtering of whole exome sequence data from 75 hereditary PCa families. Analysis of 341 candidate risk variants identified nine variants significantly associated with increased PCa risk in a population-based, case-control study of 2,495 men...
November 26, 2016: Oncotarget
https://www.readbyqxmd.com/read/27899619/the-nextprot-knowledgebase-on-human-proteins-2017-update
#9
Pascale Gaudet, Pierre-André Michel, Monique Zahn-Zabal, Aurore Britan, Isabelle Cusin, Marcin Domagalski, Paula D Duek, Alain Gateau, Anne Gleizes, Valérie Hinard, Valentine Rech de Laval, JinJin Lin, Frederic Nikitin, Mathieu Schaeffer, Daniel Teixeira, Lydie Lane, Amos Bairoch
The neXtProt human protein knowledgebase (https://www.nextprot.org) continues to add new content and tools, with a focus on proteomics and genetic variation data. neXtProt now has proteomics data for over 85% of the human proteins, as well as new tools tailored to the proteomics community.Moreover, the neXtProt release 2016-08-25 includes over 8000 phenotypic observations for over 4000 variations in a number of genes involved in hereditary cancers and channelopathies. These changes are presented in the current neXtProt update...
November 29, 2016: Nucleic Acids Research
https://www.readbyqxmd.com/read/27899194/strategies-for-clinical-implementation-of-screening-for-hereditary-cancer-syndromes
#10
REVIEW
Brandie Heald, Jessica Marquard, Pauline Funchain
Hereditary cancer syndromes generally account for 5%-10% of malignancies. While these syndromes are rare, affected patients carry significantly elevated risks of developing cancer, as do their at-risk relatives. Identification of these patients is critical to ensure timely and appropriate genetic testing relevant to cancer patients and their relatives. Several guidelines and tools are available to assist clinicians. Patients suspected to have hereditary cancer syndromes should be offered genetic testing in the setting of genetic counseling by a qualified genetics professional...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899191/genetic-predisposition-to-endocrine-tumors-diagnosis-surveillance-and-challenges-in-care
#11
REVIEW
Elisabeth Joye Petr, Tobias Else
Endocrine tumor syndromes, eg, multiple endocrine neoplasia types 1 and 2, were among the first recognized hereditary predisposition syndromes to tumor development. Over time, the number of endocrine tumor syndromes has significantly expanded, eg, with the recent inclusion of hereditary paraganglioma syndromes. Associations of non-endocrine tumors with hereditary endocrine tumor syndromes and endocrine tumors with non-classical endocrine tumor syndromes have emerged. These findings have certainly expanded the scope of care, necessitating a multidisciplinary approach by a team of medical professionals and researchers, integrating shared patient decision-making at every step of surveillance, diagnosis, and treatment...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899189/genetic-predisposition-to-kidney-cancer
#12
REVIEW
Laura S Schmidt, W Marston Linehan
Kidney cancer is not a single disease but is made up of a number of different types of cancer classified by histology that are disparate in presentation, clinical course, and genetic basis. Studies of families with inherited renal cell carcinoma (RCC) have provided the basis for our understanding of the causative genes and altered metabolic pathways in renal cancer with different histologies. Von Hippel-Lindau disease was the first renal cancer disorder with a defined genetic basis. Over the next two decades, the genes responsible for a number of other inherited renal cancer syndromes including hereditary papillary renal carcinoma, Birt-Hogg-Dube´syndrome, hereditary leiomyomatosis and renal cell carcinoma, and succinate dehydrogenase-associated renal cancer were identified...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899188/familial-prostate-cancer
#13
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
#14
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/27899186/familial-pancreatic-cancer
#15
REVIEW
Gloria M Petersen
Familial pancreatic cancer (FPC) includes those kindreds that contain at least two first-degree relatives with pancreatic ductal adenocarcinoma. At least 12 known hereditary syndromes or genes are associated with increased risk of developing pancreatic cancer, the foremost being BRCA2 and CDKN2A. Research into the identification of mutations in known cancer predisposition genes and through next-generation sequencing has revealed extensive heterogeneity. The development of genetic panel testing has enabled genetic risk assessment and predisposition testing to be routinely offered...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899185/genetic-predisposition-in-gynecologic-cancers
#16
REVIEW
Molly S Daniels, Karen H Lu
This review article discusses the diagnosis and management of hereditary ovarian cancer and hereditary uterine cancer. The key recommendations highlighted are: All women with high grade non-mucinous epithelial ovarian cancer should be offered at least BRCA1 and BRCA2 genetic testing. The care of women with BRCA-associated ovarian cancer should be tailored to their mutation status. Risk-reducing bilateral salpingo-oophorectomy is recommended for women with BRCA1/2 mutations. Women with endometrial cancer should be assessed for the possibility of Lynch syndrome...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27899184/genetic-predisposition-to-colorectal-cancer-implications-for-treatment-and-prevention
#17
REVIEW
Elena M Stoffel, Matthew B Yurgelun
Colorectal cancer (CRC) is the third most common cancer diagnosed in men and women and approximately 5% of cases are associated with identifiable germline mutations associated with hereditary cancer syndromes. Lifetime risks for CRC can approach 50%-80% for mutation carriers in the absence of endoscopic and/or surgical intervention, and early identification of at-risk individuals can guide clinical interventions for cancer prevention and treatment. Personal and family history and molecular phenotype of CRC tumors are used in determining which patients should be referred for clinical genetic evaluation...
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
#18
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/27899083/tumor-characteristics-and-prognosis-in-familial-breast-cancer
#19
G Arpino, M Pensabene, C Condello, R Ruocco, I Cerillo, R Lauria, V Forestieri, M Giuliano, C De Angelis, M Montella, A Crispo, S De Placido
BACKGROUND: Approximately 5-10% of breast cancers are hereditary and their biology and prognosis appear to differ from those of sporadic breast cancers. In this study we compared the biological features and clinical characteristics of non metastatic breast cancer in patients with BRCA mutations versus patients with a family history suggesting hereditary breast cancer but without BRCA mutations (BRCA wild type) versus patients with sporadic disease, and correlated these findings with clinical outcome...
November 29, 2016: BMC Cancer
https://www.readbyqxmd.com/read/27896456/dna-copy-number-profiling-in-microsatellite-stable-and-microsatellite-unstable-hereditary-non-polyposis-colorectal-cancers-by-targeted-cnv-array
#20
Weixiang Chen, Jun Ding, Long Jiang, Zebing Liu, Xiaoyan Zhou, Daren Shi
About half of hereditary non-polyposis colorectal cancers (HNPCCs) fulfilling the Amsterdam criteria (AC) do not display evidence of mismatch repair defects, and the difference between microsatellite-stable (MSS) and microsatellite-unstable HNPCC remains poorly understood. The study was to compare overall copy number variation (CNV) and loss of heterozygosity (LOH) of the entire genome in HNPCCs with MSS and microsatellite-instability (MSI) using the Cytoscan HD Array. This was a study carried out in samples from 20 patients with MSS HNPCC and four patients with MSI HNPCC from the Fudan University Shanghai Cancer Center (China)...
November 28, 2016: Functional & Integrative Genomics
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