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Cancer genes

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28 papers 100 to 500 followers
By Faye Kehler Family Physician and GP Anesthetist since 1987 interested in all aspects of Medicine
Haim Werner, Ilan Bruchim
The insulin-like growth factor (IGF) system has a direct effect on cellular proliferation and survival, and interacts with genetic and environmental factors implicated in causing cancer. Experimental, clinical, and epidemiological evidence show that the IGF signalling pathways are important mediators in the biochemical and molecular chain of events that lead from a phenotypically normal cell to one harbouring neoplastic traits. BRCA1 and BRCA2 have an important role in the development of hereditary and sporadic breast and ovarian cancer...
December 2012: Lancet Oncology
Ingrid M Winship, Tracy E Dudding
As the molecular basis of disease continues to be elucidated, familial cancer syndromes, which consist of a range of neoplastic and non-neoplastic features, are emerging. The usual pathway of referral to a genetics clinic or familial cancer centre is via an oncologist, when high-risk features that suggest a possible hereditary basis for the presenting cancer are recognised. Traditionally, these high-risk features include more than two family members with similar cancers over two or more generations, a young age of onset, and more than one synchronous or metachronous tumour...
May 2008: Lancet Oncology
Hui Xiao, Ke Jian Zhang, Bing Xia
The aim was to find the possible relationship between defects in the FA/BRCA pathway of genomic maintenance and potential pathogenesis of T and B cell lymphoma. We screened 29 cell lines derived from diverse subtypes of lymphoma for possible FA pathway defects. The results indicated: no defect in FANCD2 ubiquitination, BRCA2 and FANCJ expression; absence of FANCN protein in three cell lines: HT, Sudhl4 and JEKO-1. This absence was correlated with enhanced MMC-induced G2 arrest, growth inhibition and high chromosomal breakage rate in the three cell lines...
December 2008: International Journal of Hematology
Yakir Segev, Barry Rosen, Jan Lubinski, Jacek Gronwald, Henry T Lynch, Pal Moller, Charmaine Kim-Sing, Parviz Ghadirian, Beth Karlan, Charis Eng, Dawna Gilchrist, Susan L Neuhausen, Andrea Eisen, Eitan Friedman, David Euhus, Sun Ping, Steven A Narod
BRCA mutation carriers may use tamoxifen for breast cancer prevention or treatment. Hormone replacement therapy is often prescribed after surgical menopause and oral contraceptives are recommended for ovarian cancer prevention. The objective of this study was to assess the impact of these medications and other risk factors on endometrial cancer risk in BRCA carriers. Women with a BRCA1 or BRCA2 mutation were identified from a registry of mutation carriers. Cases were 83 women who had a diagnosis of endometrial cancer...
September 2015: Familial Cancer
C M Phelan, J Iqbal, H T Lynch, J Lubinski, J Gronwald, P Moller, P Ghadirian, W D Foulkes, S Armel, A Eisen, S L Neuhausen, L Senter, C F Singer, P Ainsworth, C Kim-Sing, N Tung, M Llacuachaqui, G Chornokur, S Ping, S A Narod
BACKGROUND: The BRCA1 and BRCA2 genes confer increased susceptibility to breast and ovarian cancer and to a spectrum of other cancers. There is controversy regarding the risk of colorectal cancer conferred by germline mutations in these two genes. METHODS: We followed 7015 women with a BRCA mutation for new cases of colorectal cancer. Incidence rates in carriers were compared with population-specific incidence rates, and standardised incidence ratios (SIRs) were estimated...
January 21, 2014: British Journal of Cancer
P V Gumaste, L A Penn, R M Cymerman, T Kirchhoff, D Polsky, B McLellan
Women with BRCA1/2 mutations have an elevated risk of breast and ovarian cancer. These patients and their clinicians are often concerned about their risk for other cancers, including skin cancer. Research evaluating the association between BRCA1/2 mutations and skin cancer is limited and has produced inconsistent results. Herein, we review the current literature on the risk of melanoma and nonmelanoma skin cancers in BRCA1/2 mutation carriers. No studies have shown a statistically significant risk of melanoma in BRCA1 families...
June 2015: British Journal of Dermatology
Ophira M Ginsburg, Charmaine Kim-Sing, William D Foulkes, Parviz Ghadirian, Henry T Lynch, Ping Sun, Steven A Narod
BRCA1 and BRCA2 mutation carriers have elevated risks of breast and ovarian cancers. The risks for cancers at other sites remain unclear. Melanoma has been associated with BRCA2 mutations in some studies, however, few surveys have included non-melanoma skin cancer. We followed 2729 women with a BRCA1 or BRCA2 mutation for an average of 5.0 years. These women were asked to report new cases of cancer diagnosed in themselves or in their family. The risks of skin cancer were compared for probands with BRCA1 and BRCA2 mutations...
December 2010: Familial Cancer
Mark H Greene, Christian P Kratz, Phuong L Mai, Christine Mueller, June A Peters, Gennady Bratslavsky, Alex Ling, Peter M Choyke, Ahalya Premkumar, Janet Bracci, Rissah J Watkins, Mary Lou McMaster, Larissa A Korde
Familial aggregations of testicular germ cell tumor (FTGCT) have been well described, suggesting the existence of a hereditary TGCT subset. Approximately 1.4% of newly diagnosed TGCT patients report a positive family history of TGCT. Sons and siblings of TGCT patients have four- to sixfold and eight- to tenfold increases in TGCT risk respectively. Segregation analyses suggest an autosomal recessive mode of inheritance. Linkage analyses have identified several genomic regions of modest interest, although no high-penetrance cancer susceptibility gene has been mapped yet...
June 2010: Endocrine-related Cancer
Elise Ruark, Sheila Seal, Heather McDonald, Feng Zhang, Anna Elliot, Kingwai Lau, Elizabeth Perdeaux, Elizabeth Rapley, Rosalind Eeles, Julian Peto, Zsofia Kote-Jarai, Kenneth Muir, Jeremie Nsengimana, Janet Shipley, D Timothy Bishop, Michael R Stratton, Douglas F Easton, Robert A Huddart, Nazneen Rahman, Clare Turnbull
Testicular germ cell tumor (TGCT) is the most common cancer in young men and is notable for its high familial risks. So far, six loci associated with TGCT have been reported. From genome-wide association study (GWAS) analysis of 307,291 SNPs in 986 TGCT cases and 4,946 controls, we selected for follow-up 694 SNPs, which we genotyped in a further 1,064 TGCT cases and 10,082 controls from the UK. We identified SNPs at nine new loci (1q22, 1q24.1, 3p24.3, 4q24, 5q31.1, 8q13.3, 16q12.1, 17q22 and 21q22.3) showing association with TGCT (P < 5 × 10(-8)), which together account for an additional 4-6% of the familial risk of TGCT...
June 2013: Nature Genetics
Timothy R Rebbeck, Nandita Mitra, Fei Wan, Olga M Sinilnikova, Sue Healey, Lesley McGuffog, Sylvie Mazoyer, Georgia Chenevix-Trench, Douglas F Easton, Antonis C Antoniou, Katherine L Nathanson, Yael Laitman, Anya Kushnir, Shani Paluch-Shimon, Raanan Berger, Jamal Zidan, Eitan Friedman, Hans Ehrencrona, Marie Stenmark-Askmalm, Zakaria Einbeigi, Niklas Loman, Katja Harbst, Johanna Rantala, Beatrice Melin, Dezheng Huo, Olufunmilayo I Olopade, Joyce Seldon, Patricia A Ganz, Robert L Nussbaum, Salina B Chan, Kunle Odunsi, Simon A Gayther, Susan M Domchek, Banu K Arun, Karen H Lu, Gillian Mitchell, Beth Y Karlan, Christine Walsh, Jenny Lester, Andrew K Godwin, Harsh Pathak, Eric Ross, Mary B Daly, Alice S Whittemore, Esther M John, Alexander Miron, Mary Beth Terry, Wendy K Chung, David E Goldgar, Saundra S Buys, Ramunas Janavicius, Laima Tihomirova, Nadine Tung, Cecilia M Dorfling, Elizabeth J van Rensburg, Linda Steele, Susan L Neuhausen, Yuan Chun Ding, Bent Ejlertsen, Anne-Marie Gerdes, Thomas v O Hansen, Teresa Ramón y Cajal, Ana Osorio, Javier Benitez, Javier Godino, Maria-Isabel Tejada, Mercedes Duran, Jeffrey N Weitzel, Kristie A Bobolis, Sharon R Sand, Annette Fontaine, Antonella Savarese, Barbara Pasini, Bernard Peissel, Bernardo Bonanni, Daniela Zaffaroni, Francesca Vignolo-Lutati, Giulietta Scuvera, Giuseppe Giannini, Loris Bernard, Maurizio Genuardi, Paolo Radice, Riccardo Dolcetti, Siranoush Manoukian, Valeria Pensotti, Viviana Gismondi, Drakoulis Yannoukakos, Florentia Fostira, Judy Garber, Diana Torres, Muhammad Usman Rashid, Ute Hamann, Susan Peock, Debra Frost, Radka Platte, D Gareth Evans, Rosalind Eeles, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Carole Brewer, Shirley Hodgson, Patrick J Morrison, Lisa Walker, Mary E Porteous, M John Kennedy, Louise Izatt, Julian Adlard, Alan Donaldson, Steve Ellis, Priyanka Sharma, Rita Katharina Schmutzler, Barbara Wappenschmidt, Alexandra Becker, Kerstin Rhiem, Eric Hahnen, Christoph Engel, Alfons Meindl, Stefanie Engert, Nina Ditsch, Norbert Arnold, Hans Jörg Plendl, Christoph Mundhenke, Dieter Niederacher, Markus Fleisch, Christian Sutter, C R Bartram, Nicola Dikow, Shan Wang-Gohrke, Dorothea Gadzicki, Doris Steinemann, Karin Kast, Marit Beer, Raymonda Varon-Mateeva, Andrea Gehrig, Bernhard H Weber, Dominique Stoppa-Lyonnet, Olga M Sinilnikova, Sylvie Mazoyer, Claude Houdayer, Muriel Belotti, Marion Gauthier-Villars, Francesca Damiola, Nadia Boutry-Kryza, Christine Lasset, Hagay Sobol, Jean-Philippe Peyrat, Danièle Muller, Jean-Pierre Fricker, Marie-Agnès Collonge-Rame, Isabelle Mortemousque, Catherine Nogues, Etienne Rouleau, Claudine Isaacs, Anne De Paepe, Bruce Poppe, Kathleen Claes, Kim De Leeneer, Marion Piedmonte, Gustavo Rodriguez, Katie Wakely, John Boggess, Stephanie V Blank, Jack Basil, Masoud Azodi, Kelly-Anne Phillips, Trinidad Caldes, Miguel de la Hoya, Atocha Romero, Heli Nevanlinna, Kristiina Aittomäki, Annemarie H van der Hout, Frans B L Hogervorst, Senno Verhoef, J Margriet Collée, Caroline Seynaeve, Jan C Oosterwijk, Johannes J P Gille, Juul T Wijnen, Encarna B Gómez Garcia, Carolien M Kets, Margreet G E M Ausems, Cora M Aalfs, Peter Devilee, Arjen R Mensenkamp, Ava Kwong, Edith Olah, Janos Papp, Orland Diez, Conxi Lazaro, Esther Darder, Ignacio Blanco, Mónica Salinas, Anna Jakubowska, Jan Lubinski, Jacek Gronwald, Katarzyna Jaworska-Bieniek, Katarzyna Durda, Grzegorz Sukiennicki, Tomasz Huzarski, Tomasz Byrski, Cezary Cybulski, Aleksandra Toloczko-Grabarek, Elżbieta Złowocka-Perłowska, Janusz Menkiszak, Adalgeir Arason, Rosa B Barkardottir, Jacques Simard, Rachel Laframboise, Marco Montagna, Simona Agata, Elisa Alducci, Ana Peixoto, Manuel R Teixeira, Amanda B Spurdle, Min Hyuk Lee, Sue K Park, Sung-Won Kim, Tara M Friebel, Fergus J Couch, Noralane M Lindor, Vernon S Pankratz, Lucia Guidugli, Xianshu Wang, Marc Tischkowitz, Lenka Foretova, Joseph Vijai, Kenneth Offit, Mark Robson, Rohini Rau-Murthy, Noah Kauff, Anneliese Fink-Retter, Christian F Singer, Christine Rappaport, Daphne Gschwantler-Kaulich, Georg Pfeiler, Muy-Kheng Tea, Andreas Berger, Mark H Greene, Phuong L Mai, Evgeny N Imyanitov, Amanda Ewart Toland, Leigha Senter, Anders Bojesen, Inge Sokilde Pedersen, Anne-Bine Skytte, Lone Sunde, Mads Thomassen, Sanne Traasdahl Moeller, Torben A Kruse, Uffe Birk Jensen, Maria Adelaide Caligo, Paolo Aretini, Soo-Hwang Teo, Christina G Selkirk, Peter J Hulick, Irene Andrulis
IMPORTANCE: Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. OBJECTIVE: To identify mutation-specific cancer risks for carriers of BRCA1/2. DESIGN, SETTING, AND PARTICIPANTS: Observational study of women who were ascertained between 1937 and 2011 (median, 1999) and found to carry disease-associated BRCA1 or BRCA2 mutations. The international sample comprised 19,581 carriers of BRCA1 mutations and 11,900 carriers of BRCA2 mutations from 55 centers in 33 countries on 6 continents...
April 7, 2015: JAMA: the Journal of the American Medical Association
John A G Moir, Steven A White, Jelena Mann
The outcomes of pancreatic cancer remain dismal due to late clinical presentation and the aggressive nature of the disease. A heterogeneous combination of genetic mutations, including KRAS, INK4a/CDKN2A and p53, underpin the propensity of pancreatic cancer to rapidly invade and disseminate. These oncogenes and tumour suppressors are strongly associated with cellular senescence, therefore suggesting this process as having a key role in malignant transformation. In the context of cancer, oncogenic stimuli trigger the senescent phenotype resulting in cell cycle growth arrest and prevention of progression of premalignant lesions such as PanINs...
December 2014: International Journal of Biochemistry & Cell Biology
P Economopoulou, G Dimitriadis, A Psyrri
Approximately 5-10% of breast cancer cases might be inheritable, up to 30% of which are due to BRCA1/2 mutations. During the past few years and thanks to technology evolution, we have been witnesses of an intensive search of additional genes with similar characteristics, under the premise that successful gene discovery will provide substantial opportunities for primary and secondary prevention of breast cancer. Consequently, new genes have emerged as breast cancer susceptibility genes, including rare germline mutations in high penetrant genes, such as TP53 and PTEN, and more frequent mutations in moderate penetrant genes, such as CHEK2, ATM and PALB2...
January 2015: Cancer Treatment Reviews
Patrick R Benusiglio, Sophie Gad, Christophe Massard, Edith Carton, Elisabeth Longchampt, Tiffany Faudot, Jérôme Lamoril, Sophie Ferlicot
Patients with the Birt-Hogg-Dubé cancer susceptibility syndrome are at high risk of developing renal cell carcinoma, pulmonary cysts and pneumothorax, and skin lesions called fibrofolliculomas. Here we report the case of a Birt-Hogg-Dubé patient with a primary clear cell carcinoma of the thyroid (a very rare type of thyroid cancer), and FLCN loss of heterozygosity within the tumour, providing molecular evidence for this association. Our findings expand the tumour spectrum associated with this syndrome. It is paramount to identify individuals with Birt-Hogg-Dubé so that they, and subsequently their affected relatives, can benefit from tailored cancer screening and prevention...
2014: F1000Research
Richard E Frieder, Shari Goldman Snow, Marra S Francis, Burton S Brodsky
A thorough family history evaluation remains a critical tool that helps identify those patients who are at risk for hereditary cancer. The American College of Obstetricians and Gynecologists (ACOG) recommends that all women receive a family history evaluation to screen for inherited risk, and that this information be regularly updated. Patients with an abnormal cancer family history need additional follow-up that may include hereditary cancer testing. Multigene panel testing provides comprehensive profiling for hereditary cancer patients by identifying more health risks than single genome testing...
January 2015: American Journal of Obstetrics and Gynecology
Mark E Sherman, Marion Piedmonte, Phuong L Mai, Olga B Ioffe, Brigitte M Ronnett, Linda Van Le, Iouri Ivanov, Maria C Bell, Stephanie V Blank, Paul DiSilvestro, Chad A Hamilton, Krishnansu S Tewari, Katie Wakeley, Noah D Kauff, S Diane Yamada, Gustavo Rodriguez, Steven J Skates, David S Alberts, Joan L Walker, Lori Minasian, Karen Lu, Mark H Greene
PURPOSE: Risk-reducing salpingo-oophorectomy (RRSO) lowers mortality from ovarian/tubal and breast cancers among BRCA1/2 mutation carriers. Uncertainties persist regarding potential benefits of RRSO among high-risk noncarriers, optimal surgical age, and anatomic origin of clinically occult cancers detected at surgery. To address these topics, we analyzed surgical treatment arm results from Gynecologic Oncology Group Protocol-0199 (GOG-0199), the National Ovarian Cancer Prevention and Early Detection Study...
October 10, 2014: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
S Maslyankov, G Trifonov, D Kyoseva, I Fidoshev, D Tzoneva, G Velev, I Dimova, M Sokolov, Q Koleva, G Todorov
The Peutz-Jeghers syndrome is inherited condition, characterized by hamartomatous gastrointestinal polyposis and with mucocutaneous pigmentation. We have experienced a case with typical clinical features, diagnosed before complication's development. In order to prevent cancer setting it is recommended to perform aggressive screening and high-technological procedures.
2014: Khirurgiia
Jiří Svec, Lucie Schwarzová, Bohumila Janošíková, Jitka Stekrová, Václav Mandys, Milan Kment, Pavel Vodička
Muir-Torre syndrome (MTS), a rare variant of the hereditary non polyposis colorectal cancer syndrome, is an autosomal dominant genodermatosis characterised by coincidence of sebaceous gland neoplasms (sebaceous adenoma, epithelioma, or carcinoma) and at least one internal malignancy. The underlying cause of MTS is a germline mutation in DNA mismatch repair genes MSH2, MLH1 and MSH6. We report the case of a 52-year-old caucasian woman with the development of metachronous colon cancer at the age of 38 years, uterine cancer at the age of 43 years, and unique occurrence of synchronous gastric and sebaceous carcinomas related to germline point mutation c...
2014: International Journal of Clinical and Experimental Pathology
V Sopik, C Phelan, C Cybulski, S A Narod
Women who carry a BRCA1 or BRCA2 mutation are at high risk of breast and ovarian cancer, and may be at moderately increased risk of other cancer types. This review examines studies to date that have evaluated the risk of BRCA1 and BRCA2 mutations for colorectal cancer. Accurate knowledge of colorectal cancer risk in BRCA1/2 carriers is important, because colonoscopy screening can prevent colorectal cancer through the removal of adenomatous polyps. Most studies that have identified an increased risk for colorectal cancer in BRCA1/2 mutation carriers were in high-risk cancer families, while studies that found no association were conducted in specific populations and involved the analysis of founder mutations...
May 2015: Clinical Genetics
Zhibo Liu, Xinxin Chen, Ying Wang, Haiyong Peng, Yanan Wang, Yanling Jing, Hongbing Zhang
Mechanistic target of rapamycin (mTOR) integrates multiple extracellular and intracellular signals to regulate cell growth and survival. Hyperactivation of mTOR has been observed in various cancers. Regulation of mTOR activity is thus of importance in physiological processes and tumor development. Here, we present pyruvate dehydrogenase kinase 4 (PDK4) as a novel regulator of mTORC1 signaling. mTORC1 activity was augmented with PDK4 overexpression and reduced by PDK4 suppression in various cell lines. Furthermore, PDK4 bound to cAMP-response element-binding protein (CREB) and prevented its degradation...
October 24, 2014: Journal of Biological Chemistry
Sohei Nakayama, Natasha Sng, Julian Carretero, Robert Welner, Yuichiro Hayashi, Mihoko Yamamoto, Alistair J Tan, Norihiro Yamaguchi, Hiroyuki Yasuda, Danan Li, Kenzo Soejima, Ross A Soo, Daniel B Costa, Kwok-Kin Wong, Susumu S Kobayashi
The discovery of somatic mutations in EGFR and development of EGFR tyrosine kinase inhibitors (TKI) have revolutionized treatment for lung cancer. However, resistance to TKIs emerges in almost all patients and currently no effective treatment is available. Here, we show that β-catenin is essential for development of EGFR-mutated lung cancers. β-Catenin was upregulated and activated in EGFR-mutated cells. Mutant EGFR preferentially bound to and tyrosine phosphorylated β-catenin, leading to an increase in β-catenin-mediated transactivation, particularly in cells harboring the gefitinib/erlotinib-resistant gatekeeper EGFR-T790M mutation...
October 15, 2014: Cancer Research
2014-10-04 19:05:25
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