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Familial Cancer

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https://www.readbyqxmd.com/read/28434157/general-practitioner-attitudes-towards-prescribing-aspirin-to-carriers-of-lynch-syndrome-findings-from-a-national-survey
#1
Samuel G Smith, Robbie Foy, Jennifer McGowan, Lindsay C Kobayashi, John Burn, Karen Brown, Lucy Side, Jack Cuzick
A dose non-inferiority study comparing 100 mg, 300 mg and 600 mg of aspirin for cancer prevention among Lynch Syndrome carriers is underway (Colorectal Adenoma/Carcinoma Prevention Programme trial 3, CaPP3). To guide implementation of the findings, we investigated general practitioner (GP) attitudes towards aspirin prescribing for Lynch Syndrome carriers. We surveyed 1007 UK GPs (9.6% response rate). Using a within-subjects design, GPs read a statement on harms and benefits of aspirin and indicated their willingness to prescribe aspirin at three doses (100 mg, 300 mg, 600 mg)...
April 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28405783/how-do-clinical-genetics-consent-forms-address-the-familial-approach-to-confidentiality-and-incidental-findings-a-mixed-methods-study
#2
Sandi Dheensa, Gillian Crawford, Claire Salter, Michael Parker, Angela Fenwick, Anneke Lucassen
Genetic test results can be relevant to patients and their relatives. Questions thus arise around whether clinicians regard genetic information as confidential to individuals or to families, and about how they broach this and other issues, including the potential for incidental findings, in consent (forms) for genetic testing. We conducted a content analysis of UK-wide genetic testing consent forms and interviewed 128 clinicians/laboratory scientists. We found that almost all genetic services offered patients multiple, sometimes unworkable, choices on forms, including an option to veto the use of familial genetic information to benefit relatives...
April 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28405782/importance-of-updating-family-cancer-history-in-childhood-cancer-survivors
#3
LETTER
Selena Russo, Meera Warby, Katherine M Tucker, Claire E Wakefield, Richard J Cohn
Estimates of the number of childhood cancers with a genetic basis range from 5-8.5% found in germline samples to 29% based on clinical criteria. Family history-taking practice is a fundamental first step in detecting at risk individuals and families. This study focused on Li-Fraumeni Syndrome (LFS), a highly penetrant cancer syndrome. Reported family history in a cohort of 648 of cancer survivor cohort (CCS) was examined. Eligible CCS were: (i) aged up to 14 years at diagnosis; (ii) more than 5 years postdiagnosis; (iii) treated for a childhood cancer at the study hospitals in NSW, Australia; (iv) in remission for more than 3 years...
April 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28405781/universal-screening-for-microsatellite-instability-in-colorectal-cancer-in-the-clinical-genomics-era-new-recommendations-methods-and-considerations
#4
LETTER
Jaclyn F Hechtman, Sumit Middha, Zsofia K Stadler, Ahmet Zehir, Michael F Berger, Efsevia Vakiani, Martin R Weiser, Marc Ladanyi, Leonard B Saltz, David S Klimstra, Jinru Shia
No abstract text is available yet for this article.
April 12, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28391433/a-peutz-jeghers-syndrome-family-associated-with-sinonasal-adenocarcinoma-28-years-follow-up-report
#5
Jy-Ming Chiang, Tse-Ching Chen
Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder characterized by hamartomatous polyps in both of the gastrointestinal tract and mucosal pigmentation. It could increase in risk of intestinal and extra-intestinal neoplasms. We here described three cases of sinonasal polyposis in a PJS family and two developed sinonasal type adenocarcinoma. Genetic study revealed a germline STK11/LKB1 mutation on codon 179 (c.C536G, p.P179R) of exon 4. LOH analysis of the LKB1 locus confirms this to be a deleterious mutation...
April 8, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28389768/genetic-polymorphisms-of-nf%C3%AE%C2%BAb1-94ins-delattg-and-nf%C3%AE%C2%BAbia-881a-g-genes-in-egyptian-patients-with-colorectal-cancer
#6
Mohamed Ragab Youssef, Zeinab Ibraheim Attia, Rizk Ahmed El-Baz, Sameh Roshdy, Ahmad Settin
To assess the association of genetic polymorphisms of NFκB1 and NFκBIA genes with the susceptibility to colorectal cancer (CRC). Subjects included 100 Egyptian patients with CRC (60 males and 40 females) in addition to 85 healthy controls (47 males and 38 females) from the same locality. For all participants, genetic polymorphisms of NFκB1-94ins/delATTG (rs28362491) and NFκBIA-881A/G (rs3138053) were detected by using restriction fragment length polymorphism polymerase chain reaction (RFLP-PCR). CRC patients showed a significantly higher frequency of the NFκB1-94ins/ins genotype than controls (30 vs...
April 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28389767/a-new-pot1-germline-mutation-expanding-the-spectrum-of-pot1-associated-cancers
#7
Tremika Le-Shan Wilson, Namita Hattangady, Antonio Marcondes Lerario, Carmen Williams, Erika Koeppe, Shane Quinonez, Jenae Osborne, Kelly B Cha, Tobias Else
Melanomas are associated with several hereditary conditions. We present a large family with several family members affected with primary melanomas and dysplastic nevi as well as thyroid cancer and other malignant tumors. Clinical work-up did not reveal a mutation in any of the genes usually considered with evaluation for predisposition to melanoma (BRCA1/2, CDKN2A, CDK4, PTEN, TP53). Whole exome sequencing of five affected family members showed a new variant in POT1. POT1 is associated with the telomere shelterin complex that regulates telomere protection and telomerase access...
April 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28386678/identification-of-novel-potential-genetic-predictors-of-urothelial-bladder-carcinoma-susceptibility-in-pakistani-population
#8
Syeda Hafiza Benish Ali, Kashif Sardar Bangash, Abdur Rauf, Muhammad Younis, Khursheed Anwar, Raja Khurram, Muhammad Athar Khawaja, Maleeha Azam, Abid Ali Qureshi, Saeed Akhter, Lambertus A Kiemeney, Raheel Qamar
Urothelial bladder carcinoma (UBC) is the most common among urinary bladder neoplasms. We carried out a preliminary study to determine the genetic etiology of UBC in Pakistani population, for this 25 sequence variants from 17 candidate genes were studied in 400 individuals by using polymerase chain reaction-based techniques. Multivariate logistic regression analysis was performed for association analysis of the overall data as well as the data stratified by smoking status, tumor grade and tumor stage. Variants of GSTM1, IGFBP3, LEPR and ACE were found to be associated with altered UBC risk in the overall comparison...
April 6, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28374161/all-in-the-family-communication-of-cancer-survivors-with-their-families
#9
Deborah J Bowen, Jennifer L Hay, Julie N Harris-Wai, Hendrika Meischke, Wylie Burke
Families often bear the burden of communication about cancer risk, as well as support during and after treatment for cancer in family members. These activities are left up to survivors and their families, with little support or knowledge of useful methods. We present data on aspects of family that are most relevant to risk of cancer-related communication and health promotion among family members. Families (a survivor, one first-degree relative and one parent; n = 313 families) were enrolled in the survey-based study...
April 3, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28374160/a-case-of-contralateral-breast-cancer-and-skin-cancer-associated-with-nbn-heterozygous-pathogenic-variant-c-698_701delaaca
#10
Jennifer Gass, Jessica Jackson, Sarah Macklin, Patrick Blackburn, Stephanie Hines, Paldeep S Atwal
Approximately 39.6% of people will be diagnosed with cancer during their lifetime. Several factors including, lifestyle, environment and genetics may play a role in its development. Understanding these causes will greatly improve treatment methods, prevention, and survival rates of these patients. Our patient, who has a positive family history of cancer, presented with contralateral breast cancer and multiple skin malignancies. Genetic testing revealed a frameshift variant in NBN. This gene encodes the protein, nibrin, which is involved in maintaining genomic stability...
April 3, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28365877/elucidating-the-clinical-significance-of-two-pms2-missense-variants-coexisting-in-a-family-fulfilling-hereditary-cancer-criteria
#11
Maribel González-Acosta, Jesús Del Valle, Matilde Navarro, Bryony A Thompson, Sílvia Iglesias, Xavier Sanjuan, María José Paúles, Natàlia Padilla, Anna Fernández, Raquel Cuesta, Àlex Teulé, Guido Plotz, Juan Cadiñanos, Xavier de la Cruz, Francesc Balaguer, Conxi Lázaro, Marta Pineda, Gabriel Capellá
The clinical spectrum of germline mismatch repair (MMR) gene variants continues increasing, encompassing Lynch syndrome, Constitutional MMR Deficiency (CMMRD), and the recently reported MSH3-associated polyposis. Genetic diagnosis of these hereditary cancer syndromes is often hampered by the presence of variants of unknown significance (VUS) and overlapping phenotypes. Two PMS2 VUS, c.2149G>A (p.V717M) and c.2444C>T (p.S815L), were identified in trans in one individual diagnosed with early-onset colorectal cancer (CRC) who belonged to a family fulfilling clinical criteria for hereditary cancer...
April 1, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28315974/inherited-dna-repair-gene-mutations-detected-by-tumor-next-generation-sequencing-in-urinary-tract-cancers
#12
Sumati Gupta, Samantha Greenberg, Jade Grimmett, David Gaston, Neeraj Agarwal, William Lowrance, Joshua Schiffman, Wendy Kohlmann
Interpretation of next-generation sequencing (NGS) of tumor tissue in patients with advanced Urinary Tract Cancer (UTC) is performed to guide treatment selection but may reveal pathogenic variants with germline implications. We identified three patients with UTC with unexpected germline DNA repair gene mutations. Specific testing for these was prompted by the detection of these mutations by tumor NGS. All three patients were nonsmokers with a strong family history of cancer. Two patients had upper tract UTC with age at diagnosis in the 40 s...
March 18, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28293859/supporting-disclosure-of-genetic-information-to-family-members-professional-practice-and-timelines-in-cancer-genetics
#13
Benjamin Derbez, Antoine de Pauw, Dominique Stoppa-Lyonnet, Sandrine de Montgolfier
Disclosure of genetic information within families is one of the longstanding questions under scrutiny in the field of genetics. Most of the probands entrusted with family disclosure succeed in this task, but there are still many problematic cases where it proves difficult. How can professionals help probands disclose this information? What levers can they activate to foster the diffusion of genetic information within families? In the context of a new legal framework concerning this question in France, this paper offers a comprehensive view of the process of genetic counselling in a cancer genetics department...
March 14, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28285342/prevalence-of-two-brca1-mutations-5382insc-and-300t%C3%A2-%C3%A2-g-in-ovarian-cancer-patients-from-ukraine
#14
I Gorodetska, S Serga, T Lahuta, L Ostapchenko, S Demydov, N Khranovska, O Skachkova, M Inomistova, O Kolesnik, V Svintsitsky, N Tsip, A Peresunko, N Kmit', O Manzhura, Z Rossokha, O Popova, H Salomakhina, S Kyriachenko, I Kozeretska
Ovarian cancer is the seventh most common cancer in women worldwide and the leading cause of gynecological malignant diseases-related deaths in women. The most significant risk factor for ovarian cancer is an inherited genetic mutation in one of two genes: breast cancer gene 1 (BRCA1) or breast cancer gene 2 (BRCA2). The germline mutation c.5266dupC (also known as 5382insC or 5385insC) is the most common mutation among Slavic patients with breast and/or ovarian cancer. Missense mutation c.181T > G (also known as 300T > G or p...
March 11, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28285341/improved-quality-of-risk-reducing-salpingo-oophorectomy-in-australasian-women-at-high-risk-of-pelvic-serous-cancer
#15
Y C Lee, M Bressel, P Grant, P Russell, C Smith, S Picken, S Camm, B E Kiely, R L Milne, S A McLachlan, M Hickey, M L Friedlander, J L Hopper, K A Phillips
OBJECTIVES: The quality of risk-reducing salpingo-oophorectomy (RRSO) performed in Australasian women was previously reported to be suboptimal. Here we describe the quality of RRSO performed since 2008 in women enrolled in the same cohort and determine whether it has improved. DESIGN: Prospective cohort study of women at high risk of pelvic serous cancer (PSC) in kConFab. Eligible women had RRSO between 2008 and 2014 and their RRSO surgical and pathology reports were reviewed...
March 11, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28283864/lower-gastrointestinal-neuroendocrine-neoplasms-associated-with-hereditary-cancer-syndromes-a-case-series
#16
Trilokesh D Kidambi, Christina Pedley, Amie Blanco, Emily K Bergsland, Jonathan P Terdiman
Lower gastrointestinal (GI) neuroendocrine neoplasms (NENs) of the colon and rectum are uncommon and not traditionally associated with hereditary GI cancer syndromes. However, with widespread implementation of colorectal cancer screening programs, lower GI NENs are being identified with increasing frequency. We report the first case series of six patients with lower GI NENs who were diagnosed with hereditary GI cancer syndromes by germline testing. Two patients presented with poorly differentiated rectal neuroendocrine carcinoma (NECs) with colonic polyposis and were found to have Familial Adenomatous Polyposis and MYH-Associated Polyposis, respectively...
March 10, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28271232/gastric-tumours-in-fap
#17
Sarah-Jane Walton, Ian M Frayling, Susan K Clark, Andrew Latchford
Gastric cancer is not a recognised extra-colonic manifestation of FAP, except in countries with a high prevalence of gastric cancer. Data regarding gastric adenomas in FAP are sparse. The aim of this study was to review the clinical characteristics of gastric tumours occurring within an FAP population from the largest European polyposis registry. All patients that developed a gastric adenoma or carcinoma were identified from a prospectively maintained registry database. The primary outcome measure was the occurrence of gastric adenoma or adenocarcinoma...
March 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28258424/patients-with-negative-multi-gene-panel-testing-a-back-to-the-future-paradox
#18
LETTER
Steven M Sorscher
No abstract text is available yet for this article.
March 3, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28204904/high-risk-individuals-perceptions-of-reproductive-genetic-testing-for-cdh1-mutations
#19
Nina Hallowell, Shirlene Badger, Sue Richardson, Carlos Caldas, Richard H Hardwick, Rebecca C Fitzgerald, Julia Lawton
Reproductive genetic testing- PreNatal Diagnosis (PND) and Preimplantation Genetic Diagnosis (PGD)-for CDH1 mutations associated with Hereditary Diffuse Gastric Cancer (HDGC)is available in the UK. This qualitative interview study examined high-risk individuals' (n = 35) views of CDH1 reproductive genetic testing. Interviewees generally regarded reproductive genetic testing as an acceptable form of HDGC risk management. However, some were concerned that their genetic risks required them to plan reproduction and anticipated difficulties communicating this to reproductive partners...
February 15, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28185119/biallelic-brca2-mutations-in-two-black-south-african-children-with-fanconi-anaemia
#20
Candice Feben, Careni Spencer, Anneline Lochan, Nakita Laing, Karen Fieggen, Engela Honey, Tasha Wainstein, Amanda Krause
Fanconi anaemia (FA) is a genotypically and phenotypically heterogeneous genetic condition, characterized cytogenetically by chromosomal instability and breakage secondary to impaired DNA repair mechanisms. Affected individuals typically manifest growth restriction and congenital physical abnormalities and most progress to hematological disease including bone marrow aplasia. A rare genetic subtype of FA (FA-D1) is caused by biallelic mutations in the BRCA2 gene. Affected individuals manifest severe congenital anomalies and significant pigmentary changes and are additionally at risk for early onset leukemia and certain solid organ malignancies, including Wilms tumors and brain tumors...
February 9, 2017: Familial Cancer
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