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https://www.readbyqxmd.com/read/29774471/age-at-first-full-term-birth-and-breast-cancer-risk-in-brca1-and-brca2-mutation-carriers
#1
Joanne Kotsopoulos, Jacek Gronwald, Henry T Lynch, Andrea Eisen, Susan L Neuhausen, Nadine Tung, Peter Ainsworth, Jeffrey N Weitzel, Tuya Pal, William D Foulkes, Charis Eng, Christian F Singer, Leigha Senter, Ping Sun, Jan Lubinski, Steven A Narod
PURPOSE: In the general population, an early age at first full-term birth confers protection against the risk of developing breast cancer. The relationship between age at first birth and breast cancer risk is not clear for women with a mutation in the BRCA1 or BRCA2 gene. Thus, we undertook a case-control study of women with a BRCA1 or BRCA2 mutation to study the effects of age at first full-term birth matched for other reproductive factors. METHODS: Information about reproductive factors, including age at first birth as well as medical history, was collected from a routinely administered research questionnaire...
May 17, 2018: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29771800/left-sided-dominance-of-early-onset-colorectal-cancers-a-rationale-for-screening-flexible-sigmoidoscopy-in-the-young
#2
Lior Segev, Matthew F Kalady, James M Church
BACKGROUND: National databases show a recent significant increase in the incidence of colorectal cancer in people younger than 50. With current recommendations to begin average-risk screening at age 50, these patients do not have the opportunity to be screened. We hypothesized that most of the cancers among the young would be left sided, which would create an opportunity for screening the young by flexible sigmoidoscopy. OBJECTIVE: This study aims to analyze the anatomic distribution of sporadic colorectal cancers in patients under the age of 50...
May 15, 2018: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/29769629/risk-of-multiple-pancreatic-cancers-in-cdkn2a-p16-leiden-mutation-carriers
#3
Isaura Ibrahim, Babs G Sibinga Mulder, Bert Bonsing, Hans Morreau, Arantza Farina Sarasqueta, Akin Inderson, Saskia Luelmo, Shirin Feshtali, Thomas P Potjer, Wouter de Vos Tot Nederveen Cappel, Martin Wasser, Hans F A Vasen
CDKN2A-p16-Leiden mutation carriers have a substantial risk of developing pancreatic ductal adenocarcinoma (PDAC). One of the main clinical features of hereditary cancer is the development of multiple cancers. Since 2000, we have run a surveillance program for CDKN2A-p16-Leiden mutation carriers. The patients are offered a yearly MRI with optionally endoscopic ultrasound. In patients with a confirmed lesion, usually, a partial resection of the pancreas is recommended. A total of 18 PDAC (8.3%) were detected in 218 mutation carriers...
May 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29769627/clinical-and-functional-characterization-of-the-cdh1-germline-variant-c-1679c-g-in-three-unrelated-families-with-hereditary-diffuse-gastric-cancer
#4
Laura Pena-Couso, José Perea, Soraia Melo, Fátima Mercadillo, Joana Figueiredo, João Miguel Sanches, Antonio Sánchez-Ruiz, Luis Robles, Raquel Seruca, Miguel Urioste
Germline changes in the CDH1 tumor suppressor gene predispose to diffuse gastric cancer and lobular breast cancer. In carriers of deleterious germline CDH1 variants, prophylactic gastrectomy is recommended. In case of germline missense variants, it is mandatory to assess the functional impact on E-cadherin, the protein encoded by CDH1, and to predict their clinical significance. Herein, we have identified a recurrent germline missense variant, c.1679C>G, segregating with gastric cancer in three unrelated Spanish families...
May 16, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29767749/association-of-brca2-k3326-with-small-cell-lung-cancer-and-squamous-cell-cancer-of-the-skin
#5
Thorunn Rafnar, Gudbjorg R Sigurjonsdottir, Simon N Stacey, Gisli Halldorsson, Patrick Sulem, Luba M Pardo, Hannes Helgason, Stefan T Sigurdsson, Thorkell Gudjonsson, Laufey Tryggvadottir, Gudridur H Olafsdottir, Jon G Jonasson, Kristin Alexiusdottir, Asgeir Sigurdsson, Julius Gudmundsson, Jona Saemundsdottir, Jon K Sigurdsson, Hrefna Johannsdottir, Andre Uitterlinden, Sita H Vermeulen, Tessel E Galesloot, Dawn C Allain, Martin Lacko, Bardur Sigurgeirsson, Kristin Thorisdottir, Oskar T Johannsson, Fridbjorn Sigurdsson, Gunnar B Ragnarsson, Helgi Isaksson, Hronn Hardardottir, Tomas Gudbjartsson, Daniel F Gudbjartsson, Gisli Masson, Lambertus A M L Kiemeney, Amanda Ewart Toland, Tamar Nijsten, Wilbert H M Peters, Jon H Olafsson, Steinn Jonsson, Unnur Thorsteinsdottir, Gudmar Thorleifsson, Kari Stefansson
Background: Most pathogenic mutations in the BRCA2 gene carry a high risk of hereditary breast and ovarian cancer (HBOC). However, a stop-gain mutation, K3326* (rs11571833), confers risk of lung cancer and cancers of the upper-aero-digestive tract but only a modest risk of breast or ovarian cancer. The Icelandic population provides an opportunity for comprehensive characterization of the cancer risk profiles of K3326* and HBOC mutations because a single mutation, BRCA2 999del5, is responsible for almost all BRCA2-related HBOC in the population...
May 14, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29767721/bhd-associated-kidney-cancer-exhibits-unique-molecular-characteristics-and-a-wide-variety-of-variants-in-chromatin-remodeling-genes
#6
Hisashi Hasumi, Mitsuko Furuya, Kenji Tatsuno, Shogo Yamamoto, Masaya Baba, Yukiko Hasumi, Yasuhiro Isono, Kae Suzuki, Ryosuke Jikuya, Shinji Otake, Kentaro Muraoka, Kimito Osaka, Narihiko Hayashi, Kazuhide Makiyama, Yasuhide Miyoshi, Keiichi Kondo, Noboru Nakaigawa, Takashi Kawahara, Koji Izumi, Junichi Teranishi, Yasushi Yumura, Hiroji Uemura, Yoji Nagashima, Adam R Metwalli, Laura S Schmidt, Hiroyuki Aburatani, W Marston Linehan, Masahiro Yao
Birt-Hogg-Dubé (BHD) syndrome is a hereditary kidney cancer syndrome, which predisposes patients to develop kidney cancer, cutaneous fibrofolliculomas and pulmonary cysts. The responsible gene FLCN is a tumor suppressor for kidney cancer which plays an important role in energy homeostasis through the regulation of mitochondrial oxidative metabolism. However, the process by which FLCN-deficiency leads to renal tumorigenesis is unclear. In order to clarify molecular pathogenesis of BHD-associated kidney cancer, we conducted whole-exome sequencing analysis using next-generation sequencing technology as well as metabolite analysis using LC/MS and GC/MS...
May 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29766397/novel-variant-of-unknown-significance-in-mutyh-in-a-patient-with-mutyh-associated-polyposis-a-case-to-reclassify
#7
Trilokesh D Kidambi, Dena Goldberg, Robert Nussbaum, Amie Blanco, Sarah E Umetsu, Jonathan P Terdiman, Jeffrey K Lee
MUTYH-associated polyposis (MAP) is a hereditary cancer syndrome that is caused by biallelic pathogenic variants in the MUTYH gene and should be evaluated for in patients with an attenuated colonic polyposis phenotype. Monoallelic pathogenic variants in MUTYH are associated with a moderate increased risk of colorectal cancer but not with the polyposis phenotype. We present a case of a patient presenting with multiple colonic adenomatous polyps, whose germline testing revealed a heterozygous pathogenic variant in MUTYH in exon 13, c...
May 15, 2018: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/29764331/psychological-impact-of-von-hippel-lindau-genetic-screening-in-patients-with-a-previous-history-of-hemangioblastoma-of-the-central-nervous-system
#8
Claire Rochette, Karine Baumstarck, Hélène Canoni-Zattara, Ahmad Esmaeel Abdullah, Dominique Figarella-Branger, Morgane Pertuit, Anne Barlier, Frédéric Castinetti, Karel Pacak, Philippe Metellus, David Taïeb
Von Hippel-Lindau (VHL) syndrome is a hereditary cancer syndrome characterized by a high risk of developing benign and malignant tumors, including central nervous system hemangioblastomas (CNS HBs). For an early diagnosis of VHL, before the occurrence of cancers (especially renal cell carcinoma), it is of huge importance to initiate VHL genetic testing in at-risk patients. The aim of the study was to assess the psychological impact of VHL genetic testing in patients previously diagnosed with a CNS HB. From 1999 until 2015, 55 patients underwent surgery for CNS HBs...
May 15, 2018: Journal of Psychosocial Oncology
https://www.readbyqxmd.com/read/29763621/it-s-all-in-the-family-ikzf1-and-hereditary-leukemia
#9
Junne Kamihara, Akiko Shimamura
IKZF1 plays an essential role in lymphopoiesis, and somatic IKZF1 variants in acute lymphoblastic leukemia (ALL) are associated with poor prognosis. In this issue of Cancer Cell, Churchman et al. add to the list of leukemia predisposition genes with the identification and characterization of germline IKZF1 variants in childhood ALL.
May 14, 2018: Cancer Cell
https://www.readbyqxmd.com/read/29760936/preliminary-molecular-evidence-associating-a-novel-brca1-synonymous-variant-with-hereditary-ovarian-cancer-syndrome
#10
Angelo Minucci, Paola Concolino, Maria De Bonis, Alessandra Costella, Ida Paris, Giovanni Scambia, Ettore Capoluongo
Extensive molecular screening of the BRCA1/2 ( BRCA) genes by massively parallel sequencing (MPS) identified variants of uncertain (or unknown) significance (VUS) and novel variants. We performed a molecular characterization of a novel BRCA1 synonymous variant discovered in a family with hereditary ovarian cancer (HOC) syndrome. We showed that the BRCA1 c.5073   A  > T variant might play a pathogenic role in HOC syndrome in this family.
2018: Human Genome Variation
https://www.readbyqxmd.com/read/29753700/spectrum-and-prevalence-of-genetic-predisposition-in-medulloblastoma-a-retrospective-genetic-study-and-prospective-validation-in-a-clinical-trial-cohort
#11
Sebastian M Waszak, Paul A Northcott, Ivo Buchhalter, Giles W Robinson, Christian Sutter, Susanne Groebner, Kerstin B Grund, Laurence Brugières, David T W Jones, Kristian W Pajtler, A Sorana Morrissy, Marcel Kool, Dominik Sturm, Lukas Chavez, Aurelie Ernst, Sebastian Brabetz, Michael Hain, Thomas Zichner, Maia Segura-Wang, Joachim Weischenfeldt, Tobias Rausch, Balca R Mardin, Xin Zhou, Cristina Baciu, Christian Lawerenz, Jennifer A Chan, Pascale Varlet, Lea Guerrini-Rousseau, Daniel W Fults, Wiesława Grajkowska, Peter Hauser, Nada Jabado, Young-Shin Ra, Karel Zitterbart, Suyash S Shringarpure, Francisco M De La Vega, Carlos D Bustamante, Ho-Keung Ng, Arie Perry, Tobey J MacDonald, Pablo Hernáiz Driever, Anne E Bendel, Daniel C Bowers, Geoffrey McCowage, Murali M Chintagumpala, Richard Cohn, Timothy Hassall, Gudrun Fleischhack, Tone Eggen, Finn Wesenberg, Maria Feychting, Birgitta Lannering, Joachim Schüz, Christoffer Johansen, Tina V Andersen, Martin Röösli, Claudia E Kuehni, Michael Grotzer, Kristina Kjaerheim, Camelia M Monoranu, Tenley C Archer, Elizabeth Duke, Scott L Pomeroy, Redmond Shelagh, Stephan Frank, David Sumerauer, Wolfram Scheurlen, Marina V Ryzhova, Till Milde, Christian P Kratz, David Samuel, Jinghui Zhang, David A Solomon, Marco Marra, Roland Eils, Claus R Bartram, Katja von Hoff, Stefan Rutkowski, Vijay Ramaswamy, Richard J Gilbertson, Andrey Korshunov, Michael D Taylor, Peter Lichter, David Malkin, Amar Gajjar, Jan O Korbel, Stefan M Pfister
BACKGROUND: Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. METHODS: In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED)...
May 9, 2018: Lancet Oncology
https://www.readbyqxmd.com/read/29752822/germline-mutations-in-40-cancer-susceptibility-genes-among-chinese-patients-with-high-hereditary-risk-breast-cancer
#12
Junyan Li, Ruilin Jing, Hongyi Wei, Minghao Wang, Xiaowei Qi, Haoxi Liu, Jian Liu, Jianghua Ou, Weihua Jiang, Fuguo Tian, Yuan Sheng, Hengyu Li, Hong Xu, Ruishan Zhang, Aihua Guan, Ke Liu, Hongchuan Jiang, Yu Ren, Jianjun He, Weiwei Huang, Ning Liao, Xiangjun Cai, Jia Ming, Rui Ling, Yan Xu, Chunyan Hu, Jianguo Zhang, Baoliang Guo, Lizhi Ouyang, Ping Shuai, Zhenzhen Liu, Ling Zhong, Zhen Zeng, Ting Zhang, Zhaoling Xuan, Xuanni Tan, Junbin Liang, Qinwen Pan, Li Chen, Fan Zhang, Linjun Fan, Yi Zhang, Xinhua Yang, Jingbo Li, Chongjian Chen, Jun Jiang
Multigene panel testing of breast cancer predisposition genes have been extensively conducted in Europe and America, which is relatively rare in Asia however. In this study, we assessed the frequency of germline mutations in 40 cancer predisposition genes, including BRCA1 and BRCA2, among a large cohort of Chinese patients with high hereditary risk of BC. From 2015 to 2016, consecutive BC patients from 26 centers of China with high hereditary risk were recruited (n=937). Clinical information was collected and next-generation sequencing (NGS) was performed using blood samples of participants to identify germline mutations...
May 12, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29752319/misdiagnosis-of-li-fraumeni-syndrome-in-a-patient-with-clonal-hematopoiesis-and-a-somatic-tp53-mutation
#13
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/29750819/correction-brca1-and-brca2-mutational-profile-and-prevalence-in-hereditary-breast-and-ovarian-cancer-hboc-probands-from-southern-brazil-are-international-testing-criteria-appropriate-for-this-specific-population
#14
Bárbara Alemar, Cleandra Gregório, Josef Herzog, Camila Matzenbacher Bittar, Cristina Brinckmann Oliveira Netto, Osvaldo Artigalas, Ida Vanessa D Schwartz, Jordy Coffa, Suzi Alves Camey, Jeffrey Weitzel, Patricia Ashton-Prolla
[This corrects the article DOI: 10.1371/journal.pone.0187630.].
2018: PloS One
https://www.readbyqxmd.com/read/29750335/universal-screening-of-both-endometrial-and-colon-cancers-increases-the-detection-of-lynch-syndrome
#15
Tomer Adar, Linda H Rodgers, Kristen M Shannon, Makoto Yoshida, Tianle Ma, Anthony Mattia, Gregory Y Lauwers, Anthony J Iafrate, Nicole M Hartford, Esther Oliva, Daniel C Chung
BACKGROUND: Lynch syndrome (LS) is the most common hereditary cause of colorectal cancer (CRC) and endometrial cancer (EC). Screening of all CRCs for LS is currently recommended, but screening of ECs is inconsistent. The objective of this study was to determine the added value of screening both CRC and EC tumors in the same population. METHODS: A prospective, immunohistochemistry (IHC)-based screening program for all patients with newly diagnosed CRCs and ECs was initiated in 2011 and 2013, respectively, at 2 centers (primary and tertiary)...
May 11, 2018: Cancer
https://www.readbyqxmd.com/read/29750288/recognizing-and-managing-children-with-a-pediatric-cancer-predisposition-syndrome-a-guide-for-the-pediatrician
#16
Stephanie A Coury, Katherine A Schneider, Jaclyn Schienda, Wen-Hann Tan
It is estimated that at least 8% to 10% of children diagnosed with cancer have an inherited cancer predisposition syndrome. Pediatricians may be called upon to (1) identify children with symptoms suggestive of cancer that require further diagnostic testing, (2) identify children who should be referred to cancer genetics based on their personal and family histories, and (3) provide primary care to children who have an inherited cancer syndrome. This review article provides a list of clinical warning signs suggestive of childhood malignancy, discusses the personal and family history "red flags" suggestive of hereditary cancer, offers checklists to help identify patients who are candidates for cancer genetics evaluation, and describes features of the major pediatric cancer syndromes involving solid tumors and surveillance guidelines...
May 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29748137/the-hidden-potential-of-lysosomal-ion-channels-a-new-era-of-oncogenes
#17
REVIEW
Andra M Sterea, Shekoufeh Almasi, Yassine El Hiani
Lysosomes serve as the control centre for cellular clearance. These membrane-bound organelles receive biomolecules destined for degradation from intracellular and extracellular pathways; thus, facilitating the production of energy and shaping the fate of the cell. At the base of their functionality are the lysosomal ion channels which mediate the function of the lysosome through the modulation of ion influx and efflux. Ion channels form pores in the membrane of lysosomes and allow the passage of ions, a seemingly simple task which harbours the potential of overthrowing the cell's stability...
March 10, 2018: Cell Calcium
https://www.readbyqxmd.com/read/29746440/composite-adrenocortical-carcinoma-and-neuroblastoma-in-an-infant-with-a-tp53-germline-mutation-a-case-report-and-literature-review
#18
Yue-Jia Tang, Ting-Ting Yu, Jing Ma, Ying Zhou, Min Xu, Yi-Jin Gao
Li-Fraumeni syndrome is a kind of hereditary cancer predisposition syndromes, and is caused by TP53 gene mutation. Adrenocortical carcinoma (ACC) is commonly described as the most closely related tumor with this disease. Here, we present a case of a male infant with composite ACC and neuroblastoma who inherited a TP53 gene mutation from his mother, a 20-year-old carrier without any tumor to date. This TP53 gene mutation may be pathogenic and lead to composite malignancies of ACC and neuroblastoma.
May 9, 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29745790/clinical-criteria-revision-for-hereditary-lobular-breast-cancer-associated-with-e-cadherin-germline-mutations
#19
Giovanni Corso, Alessandra De Scalzi, Irene Feroce, Paolo Veronesi, Bernardo Bonanni, Viviana Galimberti
No abstract text is available yet for this article.
May 10, 2018: Personalized Medicine
https://www.readbyqxmd.com/read/29742654/effects-of-cancer-genetic-panel-testing-on-at-risk-individuals
#20
Anja S Frost, Miriam Toaff, Tara Biagi, Elizabeth Stark, Allison McHenry, Rebecca Kaltman
OBJECTIVE: To evaluate the role of screening patients at increased risk for hereditary cancer syndromes with an extended panel of cancer predisposition genes to identify actionable genetic mutations. METHODS: A retrospective chart review was conducted of all patients presenting to a multidisciplinary cancer program for genetic counseling and testing from January 2015 to December 2016. Individuals presenting to the program were identified as at-risk by a personal or family history of cancer, by their health care provider, or by self-referral...
May 7, 2018: Obstetrics and Gynecology
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