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Hereditary cancer

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https://www.readbyqxmd.com/read/29345684/msh6-and-pms2-germ-line-pathogenic-variants-implicated-in-lynch-syndrome-are-associated-with-breast-cancer
#1
Maegan E Roberts, Sarah A Jackson, Lisa R Susswein, Nur Zeinomar, Xinran Ma, Megan L Marshall, Amy R Stettner, Becky Milewski, Zhixiong Xu, Benjamin D Solomon, Mary Beth Terry, Kathleen S Hruska, Rachel T Klein, Wendy K Chung
PurposeAn association of Lynch syndrome (LS) with breast cancer has been long suspected; however, there have been insufficient data to address this question for each of the LS genes individually.MethodsWe conducted a retrospective review of personal and family history in 423 women with pathogenic or likely pathogenic germ-line variants in MLH1 (N = 65), MSH2 (N = 94), MSH6 (N = 140), or PMS2 (N = 124) identified via clinical multigene hereditary cancer testing. Standard incidence ratios (SIRs) of breast cancer were calculated by comparing breast cancer frequencies in our study population with those in the general population (Surveillance, Epidemiology, and End Results 18 data)...
January 18, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29344385/improving-attendance-to-genetic-counselling-services-for-gynaecological-oncology-patients
#2
Hanoon P Pokharel, Neville F Hacker, Lesley Andrews
Background: Gynaecological cancers may be the sentinel malignancy in women who carry a mutation in BRCA1 or 2, a mis-match repair gene causing Lynch Syndrome or other genes. Despite published guidelines for referral to a genetics service, a substantial number of women do not attend for the recommended genetic assessment. The study aims to determine the outcomes of systematic follow-up of patients diagnosed with ovarian or endometrial cancer from Gynaecologic-oncology multidisciplinary meetings who were deemed appropriate for genetics assessment...
2018: Gynecologic Oncology Research and Practice
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#3
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/29341149/quality-of-life-implications-of-risk-reducing-cancer-surgery
#4
REVIEW
A M Altman, J Y C Hui, T M Tuttle
BACKGROUND: Modern advances in genetic sequencing techniques have allowed for increased availability of genetic testing for hereditary cancer syndromes. Consequently, more people are being identified as mutation carriers and becoming aware of their increased risk of malignancy. Testing is commonplace for many inheritable cancer syndromes, and with that comes the knowledge of being a gene carrier for some patients. With increased risk of malignancy, many guidelines recommend that gene carriers partake in risk reduction strategies, including risk-reducing surgery for some syndromes...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29341148/outcomes-after-prophylactic-gastrectomy-for-hereditary-diffuse-gastric-cancer
#5
R T van der Kaaij, J P van Kessel, J M van Dieren, P Snaebjornsson, O Balagué, F van Coevorden, L E van der Kolk, K Sikorska, A Cats, J W van Sandick
BACKGROUND: Patients with hereditary diffuse gastric cancer and a CDH1 mutation have a 60-80 per cent lifetime risk of developing diffuse gastric cancer. Total prophylactic gastrectomy eliminates this risk, but is associated with considerable morbidity. The effectiveness (removal of all gastric mucosa) and outcomes of this procedure were evaluated retrospectively. METHODS: All consecutive individuals undergoing a prophylactic gastrectomy for a CDH1 mutation or gastric signet ring cell foci at the authors' institute between 2005 and 2017 were included...
January 2018: British Journal of Surgery
https://www.readbyqxmd.com/read/29341116/rare-missense-mutations-in-recql-and-polg-associate-with-inherited-predisposition-to-breast-cancer
#6
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/29341041/screening-interval-recommendations-following-a-normal%C3%A2-colonoscopy-in-individuals-with-a-familial-risk-of%C3%A2-colorectal-cancer
#7
Jasper Plath, Andrea Siebenhofer, Corina Guethlin, Irina Blumenstein
BACKGROUND:  In view of the increased risk of developing colorectal cancer (CRC) in individuals with affected first-degree relatives (FDRs), the German evidence-based S3 guideline recommends having the first screening colonoscopy early and then, following a normal examination, repeating it at least every 10 years. The aim of this analysis was to explore colonoscopy interval recommendations in clinical practice among individuals aged < 55 years with a familial risk of CRC. METHODS:  We analyzed data from the FRIDA...
January 16, 2018: Zeitschrift Für Gastroenterologie
https://www.readbyqxmd.com/read/29339979/brca1-and-brca2-mutation-spectrum-an-update-on-mutation-distribution-in-a-large-cancer-genetics-clinic-in-norway
#8
Cecilie Heramb, Teresia Wangensteen, Eli Marie Grindedal, Sarah Louise Ariansen, Sheba Lothe, Ketil Riddervold Heimdal, Lovise Mæhle
Background: Founder mutations in the two breast cancer genes, BRCA1 and BRCA2, have been described in many populations, among these are Ashkenazi-Jewish, Polish, Norwegian and Icelandic. Founder mutation testing in patients with relevant ancestry has been a cost-efficient approach in such populations. Four Norwegian BRCA1 founder mutations were defined by haplotyping in 2001, and accounted for 68% of BRCA1 mutation carriers at the time. After 15 more years of genetic testing, updated knowledge on the mutation spectrum of both BRCA1 and BRCA2 in Norway is needed...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29339836/the-role-of-metabolic-enzymes-in-mesenchymal-tumors-and-tumor-syndromes-genetics-pathology-and-molecular-mechanisms
#9
REVIEW
Inga-Marie Schaefer, Jason L Hornick, Judith V M G Bovée
The discovery of mutations in genes encoding the metabolic enzymes isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), and fumarate hydratase (FH) has expanded our understanding not only of altered metabolic pathways but also epigenetic dysregulation in cancer. IDH1/2 mutations occur in enchondromas and chondrosarcomas in patients with the non-hereditary enchondromatosis syndromes Ollier disease and Maffucci syndrome and in sporadic tumors. IDH1/2 mutations result in excess production of the oncometabolite (D)-2-hydroxyglutarate...
January 16, 2018: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29338689/variants-of-cancer-susceptibility-genes-in-korean-brca1-2-mutation-negative-patients-with-high-risk-for-hereditary-breast-cancer
#10
Ji Soo Park, Seung-Tae Lee, Eun Ji Nam, Jung Woo Han, Jung-Yun Lee, Jieun Kim, Tae Il Kim, Hyung Seok Park
BACKGROUND: We evaluated the incidence and spectrum of pathogenic and likely pathogenic variants of cancer susceptibility genes in BRCA1/2 mutation-negative Korean patients with a high risk for hereditary breast cancer using a comprehensive multigene panel that included 35 cancer susceptibility genes. METHODS: Samples from 120 patients who were negative for BRCA1/2 mutations, but had been diagnosed with breast cancer that was likely hereditary, were prospectively evaluated for the prevalence of high-penetrance and moderate-penetrance germline mutations...
January 16, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29333064/colorectal-polyposis-and-inherited-colorectal-cancer-syndromes
#11
REVIEW
Raphael M Byrne, Vassiliki Liana Tsikitis
The majority of colorectal cancer (CRC) cases are sporadic, with hereditary factors contributing to approximately 35% of CRC cases. Less than 5% of CRC is associated with a known genetic syndrome. Although adenomatous polyposis syndromes, hamartomatous polyposis syndromes, and those previously classified as non-polyposis CRC syndromes are quite rare, it is important for clinicians to know the characteristics of each syndrome and to understand the differences in cancer risks between the different conditions...
January 2018: Annals of Gastroenterology: Quarterly Publication of the Hellenic Society of Gastroenterology
https://www.readbyqxmd.com/read/29332326/carcinogenic-potential-of-antitumor-therapies-is-the-risk-predictable
#12
Ivanka Nenova, Janet Grudeva-Popova
The growing number of successfully cured cancer patients has created a new field in oncogenesis. The life expectancy of such patients has increased, however this favorable event may create enough time for epigenetic events to occur which can cause a new carcinognic event, i.e. a secondary malignancy. The terms in use are second primary malignancies as well as therapy-related neoplasms in case the treatment of the first neoplasm is a direct cause. Second primary malignancies can be hematological neoplasms or solid tumors, with solid tumors having higher frequency...
November 2017: Journal of B.U.ON.: Official Journal of the Balkan Union of Oncology
https://www.readbyqxmd.com/read/29332197/identification-as-a-mutation-carrier-and-effects-on-life-according-to-experiences-of-finnish-male-brca1-2-mutation-carriers
#13
Outi Kajula, Outi Kuismin, Helvi Kyngäs
Earlier studies have explored post-identification experiences of male BRCA1/2 mutation carriers, but more detailed knowledge of both their experiences and effects of identification as a carrier on their lives is required to improve genetic counseling. Thus, the aim of this study was to acquire deeper and broader insights into their experiences. Qualitative data were collected from theme-based interviews with 31 men carrying BRCA1/2 mutations in Finland, and analyzed using inductive content analysis. Three categories of the participants' responses to identification as BRCA1/2 mutation carriers were identified (personal, offspring-related and related to other relatives), mainly concerning issues associated with cancer, hereditary transmission of their mutations, and life decisions...
January 13, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29330845/the-association-between-smoking-and-cancer-incidence-in-brca1-and-brca2-mutation-carriers
#14
Kwang-Pil Ko, Shana J Kim, Tomasz Huzarski, Jacek Gronwald, Jan Lubinski, Henry T Lynch, Susan Armel, Sue K Park, Beth Karlan, Christian F Singer, Susan L Neuhausen, Steven A Narod, Joanne Kotsopoulos
Tobacco smoke is an established carcinogen, but the association between tobacco smoking and cancer risk in BRCA mutation carriers is not clear. The aim of this study was to evaluate prospectively the association between tobacco smoking and cancer incidence in a cohort of BRCA1 and BRCA2 mutation carriers. The study population consisted of unaffected BRCA mutation carriers. Information on lifestyle including smoking histories, reproductive factors, and past medical histories was obtained through questionnaires...
January 13, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29330641/characteristics-of-mutyh-variants-in-japanese-colorectal-polyposis-patients
#15
Misato Takao, Tatsuro Yamaguchi, Hidetaka Eguchi, Yuhki Tada, Masakazu Kohda, Koichi Koizumi, Shin-Ichiro Horiguchi, Yasushi Okazaki, Hideyuki Ishida
BACKGROUND: The base excision repair gene MUTYH is the causative gene of colorectal polyposis syndrome, which is an autosomal recessive disorder associated with a high risk of colorectal cancer. Since few studies have investigated the genotype-phenotype association in Japanese patients with MUTYH variants, the aim of this study was to clarify the clinicopathological findings in Japanese patients with MUTYH gene variants who were detected by screening causative genes associated with hereditary colorectal polyposis...
January 12, 2018: International Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29330297/characterization-and-evidence-of-the-mir-888-cluster-as-a-novel-cancer-network-in-prostate
#16
Tsuyoshi Hasegawa, Garrison Glavich, Mary Pahuski, Aleena M Short, Oliver John Semmes, Lifang Yang, Vitold Galkin, Richard R Drake, Aurora Esquela-Kerscher
Prostate cancer afflicts 1 in 7 men and is the second leading cause of male cancer-related deaths in the United States. MicroRNAs (miRNAs), an extensive class of ~22 nucleotide non-coding RNAs, are often aberrantly expressed in tissues and fluids from prostate cancer patients but the mechanism of how specific miRNAs regulate prostate tumorigenesis and metastasis are poorly understood. Here, miR-888 was identified as a novel prostate factor that promotes proliferation and migration. miR-888 resides within a genomic cluster of 7 miRNA genes (mir-892c, mir-890, mir-888, mir-892a, mir-892b, mir-891b, mir-891a) on human chromosome Xq27...
January 12, 2018: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29325452/inherited-cancer-in-the-age-of-next-generation-sequencing
#17
Kristin S Price, Ashley Svenson, Elisabeth King, Kaylene Ready, Gabriel A Lazarin
Next-generation sequencing (NGS) technology has led to the ability to test for multiple cancer susceptibility genes simultaneously without significantly increasing cost or turnaround time. With growing usage of multigene testing for inherited cancer, ongoing education for nurses and other health-care providers about hereditary cancer screening is imperative to ensure appropriate testing candidate identification, test selection, and posttest management. The purpose of this review article is to (1) provide an overview of how NGS works to detect germline mutations, (2) summarize the benefits and limitations of multigene panel testing, (3) describe risk categories of cancer susceptibility genes, and (4) highlight the counseling considerations for patients pursuing multigene testing...
January 1, 2018: Biological Research for Nursing
https://www.readbyqxmd.com/read/29325224/hereditary-kidney-cancer-syndromes-genetic-disorders-driven-by-alterations-in-metabolism-and-epigenome-regulation
#18
Hisashi Hasumi, Masahiro Yao
Although hereditary kidney cancer syndrome accounts for around five percent of all kidney cancers, the mechanistic insight into tumor development in these rare conditions has provided the foundation for the development of molecular targeting agents currently used for sporadic kidney cancer. In the late 1980s, the comprehensive study for hereditary kidney cancer syndrome was launched in the National Cancer Institute, U.S.A. and the first kidney cancer associated gene, VHL was identified through kindred analysis of von Hippel-Lindau syndrome in 1993...
January 11, 2018: Cancer Science
https://www.readbyqxmd.com/read/29324375/cancer-in-an-unexpected-site-post-pouch-surgery-for-familial-adenomatous-polyposis-fap
#19
Omar A Alwahbi, Alaa S Abduljabbar, Lucman A Anwer
INTRODUCTION: Familial Adenomatous Polyposis (FAP) is a hereditary condition characterized by multiple colorectal adenomatous polyps. FAP is the most common adenomatous polyposis syndrome. Restorative proctocolectomy is the most commonly performed surgical procedure performed for patients suffering from FAP with different options for anastomosis, namely ileorectal anastomosis (IRA) or ileal pouch anal anastomosis (IPAA). The occurrence of adenomas is a common finding during follow up and surveillance post surgery for these patients...
December 28, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29321196/birt-hogg-dub%C3%A3-syndrome-spontaneous-pneumothorax-as-a-first-symptom
#20
Kirse Bock, Zuzana Lohse, Poul Henning Madsen, Ole Hilberg
Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary autosomal dominant condition characterised by benign cutaneous lesions, lung cysts, increased risk of spontaneous pneumothorax and renal cancer. It shows great heterogenous presentation within and between affected families. We report a case of a Danish female patient with recurrent pneumothoraces as the first symptom of BHDS. Over the years, she developed skin changes, and a family history of skin changes, pneumothoraces and renal cancer was discovered. BHDS was suspected, a genetic analysis was performed and a pathogenic variation c...
January 9, 2018: BMJ Case Reports
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