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Familial Cancer

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https://www.readbyqxmd.com/read/28315974/inherited-dna-repair-gene-mutations-detected-by-tumor-next-generation-sequencing-in-urinary-tract-cancers
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
https://www.readbyqxmd.com/read/28185118/gastric-cancer-in-fap-a-concerning-rise-in-incidence
#10
Gautam Mankaney, Pamela Leone, Michael Cruise, Lisa LaGuardia, Margaret O'Malley, Amit Bhatt, James Church, Carol A Burke
The highest cancer risks in familial adenomatous polyposis (FAP) include colorectal, duodenal, and thyroid for which surveillance is recommended. Nearly all patients with FAP have gastric fundic gland polyposis (FGP), but gastric cancers are rarely reported with a similar incidence as the general population. We describe a recent, sudden increase in the incidence of gastric cancer in FAP. Seven of the ten cases were diagnosed in the last 20 months. Comparing our population to the SEER database for gastric cancer, the standardized incidence ratio is 140...
February 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28185117/a-lesson-from-a-reported-pathogenic-variant-in-peutz-jeghers-syndrome-a-case-report
#11
Hu Tan, Xianda Wei, Pu Yang, Yanru Huang, Haoxian Li, Desheng Liang, Lingqian Wu
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by mucocutaneous hyperpigmentation, gastrointestinal (GI) hamartmatous polyps, and an increased risk of various malignancies. Pathogenic variants in the LKB1 tumor suppressor gene (also known as STK11) are the major cause of PJS. In this study, compound heterozygous variants of LKB1, c.890G > A/ c.1062C > G and del(exon1)/ c.1062C > G, were identified in two sporadic Chinese PJS cases respectively. Although all these three variants had been related to the autosomal dominant PJS in previous studies, all evidences collected in this study including de novo data, segregation data, population data, in-silico data, and functional data indicated that del(exon1) and c...
February 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28176206/the-association-between-prognosis-of-breast-cancer-and-first-degree-family-history-of-breast-or-ovarian-cancer-a-systematic-review-and-meta-analysis
#12
REVIEW
Jun-Long Song, Chuang Chen, Jing-Ping Yuan, Sheng-Rong Sun
Whether a positive family history of breast cancer or ovarian cancer (FHBOC) would affect the prognosis of breast cancer is still up for debate and further study. This meta-analysis was performed to clarify this issue. We reviewed two databases (PubMed and CNKI) for research articles published at any time from the inception of these databases to April 1, 2016 for articles detecting the impact of FHBOC on the prognosis of breast cancer. A meta-analysis was conducted to generated combined hazard ratios (HR) with 95% confidence intervals (CI) for overall survival (OS) and breast cancer-specific survival (BCSS)...
February 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28176205/correlation-between-germline-mutations-in-mmr-genes-and-microsatellite-instability-in-ovarian-cancer-specimens
#13
Mohammad R Akbari, Shiyu Zhang, Deborah Cragun, Ji-Hyun Lee, Domenico Coppola, John McLaughlin, Harvey A Risch, Barry Rosen, Patricia Shaw, Thomas A Sellers, Joellen Schildkraut, Steven A Narod, Tuya Pal
A high proportion of ovarian cancers from women who carry germline mutations in mismatch repair (MMR) genes demonstrate microsatellite instability (MSI). The utility of pre-screening ovarian cancer specimens for MSI to identify potential patients for germline screening for MMR mutations is uncertain. 656 women with malignant ovarian cancer underwent both MSI testing and germline mutation testing for large rearrangements in three MMR genes, MLH1, MSH2 and MSH6. Germline DNA sequencing data for the same genes was available...
February 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28176204/universal-screening-for-lynch-syndrome-among-patients-with-colorectal-cancer-patient-perspectives-on-screening-and-sharing-results-with-at-risk-relatives
#14
Jessica Ezzell Hunter, Kathleen A Arnold, Jennifer E Cook, Jamilyn Zepp, Marian J Gilmore, Alan F Rope, James V Davis, Kellene M Bergen, Elizabeth Esterberg, Kristin R Muessig, Susan K Peterson, Sapna Syngal, Louise Acheson, Georgia Wiesner, Jacob Reiss, Katrina A B Goddard
Universal screening for Lynch syndrome (LS) among all cases of colorectal cancer (CRC) could increase the diagnosis of LS and reduce morbidity and mortality of LS-associated cancers. Given universal screening includes all patients, irrespective of high risk factors such early age at onset or family history of CRC, it is important to understand perspectives of all patients and not just those at high risk. As part of a study to assess the feasibility and implementation of universal screening, 189 patients newly diagnosed with CRC were surveyed about their interest in screening for LS and communication of results with at-risk family members...
February 7, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28124295/psychosocial-morbidity-in-tp53-mutation-carriers-is-whole-body-cancer-screening-beneficial
#15
Kate A McBride, Mandy L Ballinger, Timothy E Schlub, Mary-Anne Young, Martin H N Tattersall, Judy Kirk, Ros Eeles, Emma Killick, Leslie G Walker, Sue Shanley, David M Thomas, Gillian Mitchell
Germline TP53 mutation carriers are at high risk of developing a range of cancers. Effective cancer risk management is an important issue for these individuals. We assessed the psychosocial impact in TP53 mutation carriers of WB-MRI screening as part of the Surveillance in Multi-Organ Cancer (SMOC+) protocol, measuring their unmet needs, anxiety and depression levels as well as cancer worry using psychological questionnaires and in-depth interviews about their experiences of screening. We present preliminary psychosocial findings from 17 participants during their first 12 months on the trial...
January 25, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28091804/baseline-results-from-the-uk-signify-study-a-whole-body-mri-screening-study-in-tp53-mutation-carriers-and-matched-controls
#16
Sibel Saya, Emma Killick, Sarah Thomas, Natalie Taylor, Elizabeth K Bancroft, Jeanette Rothwell, Sarah Benafif, Alexander Dias, Christos Mikropoulos, Jenny Pope, Anthony Chamberlain, Ranga Gunapala, Louise Izatt, Lucy Side, Lisa Walker, Susan Tomkins, Jackie Cook, Julian Barwell, Vicki Wiles, Lauren Limb, Diana Eccles, Martin O Leach, Susan Shanley, Fiona J Gilbert, Helen Hanson, David Gallagher, Bala Rajashanker, Richard W Whitehouse, Dow-Mu Koh, S Aslam Sohaib, D Gareth Evans, Rosalind A Eeles
In the United Kingdom, current screening guidelines for TP53 germline mutation carriers solely recommends annual breast MRI, despite the wide spectrum of malignancies typically seen in this group. This study sought to investigate the role of one-off non-contrast whole-body MRI (WB MRI) in the screening of asymptomatic TP53 mutation carriers. 44 TP53 mutation carriers and 44 population controls were recruited. Scans were read by radiologists blinded to participant carrier status. The incidence of malignancies diagnosed in TP53 mutation carriers against general population controls was calculated...
January 16, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28063109/mutation-screening-of-ackr3-and-cops8-in-kidney-cancer-cases-from-the-confirm-study
#17
Maryam Mahmoodi, Tu Nguyen-Dumont, Fleur Hammet, Bernard J Pope, Daniel J Park, Melissa C Southey, John M Darlow, Fiona Bruinsma, Ingrid Winship
An apparently balanced t(2;3)(q37.3;q13.2) translocation that appears to segregate with renal cell carcinoma (RCC) has indicated potential areas to search for the elusive genetic basis of clear cell RCC. We applied Hi-Plex targeted sequencing to analyse germline DNA from 479 individuals affected with clear cell RCC for this breakpoint translocation and genetic variants in neighbouring genes on chromosome 2, ACKR3 and COPS8. While only synonymous variants were found in COPS8, one of the missense variants in ACKR3:c...
January 6, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28039656/novel-and-reported-pathogenic-variants-in-exon-11-of-brca2-gene-in-a-cohort-of-sri-lankan-young-breast-cancer-patients
#18
Sumadee De Silva, Kamani Hemamala Tennekoon, Aravinda Dissanayake, Kanishka De Silva, Lakshika Jayasekara
Women with breast carcinoma diagnosed before 40 years of age with a strong familial risk have a greater prevalence of germline BRCA1 or BRCA2 variants than late onset breast cancer. Previously germline variants in BRCA1 and BRCA2 genes were characterized in a cohort of Sri Lankan breast cancer patients unselected for age of onset. This study focused on young breast cancer patients who were screened for previously identified hotspot regions in BRCA2 gene. A total of 48 young breast cancer patients with family history of cancer and 25 healthy controls were studied...
December 30, 2016: Familial Cancer
https://www.readbyqxmd.com/read/28120249/efficacy-versus-effectiveness-of-clinical-genetic-testing-criteria-for-brca1-and-brca2-hereditary-mutations-in-incident-breast-cancer
#19
Martin P Nilsson, Christof Winter, Ulf Kristoffersson, Martin Rehn, Christer Larsson, Lao H Saal, Niklas Loman
Increasing evidence supports the benefit of identifying BRCA1 and BRCA2 germline mutations in early breast cancer. Selection of patients for genetic testing is based on defined criteria taking individual and family history related factors into account. It is important to make a distinction between efficacy and effectiveness of BRCA testing criteria. Efficacy can be defined as the performance under ideal circumstances, whereas effectiveness refers to its real life performance. To allow for an unbiased and detailed evaluation of efficacy and effectiveness of the Swedish BRCA testing criteria, we retrospectively analyzed a prospectively collected cohort of 273 breast cancer patients from the well-characterized, population-based, single-site All Breast Cancer in Malmö (ABiM) study...
April 2017: Familial Cancer
https://www.readbyqxmd.com/read/27896548/four-generations-of-sdhb-related-disease-complexities-in-management
#20
U Srirangalingam, M LeCain, N Tufton, S A Akker, W M Drake, K Metcalfe
SDHB mutations are linked to the familial paraganglioma syndrome type 4 (PGL4), which is associated with predominantly extra-adrenal disease and has high metastatic rates. Despite the lower penetrance rates in carriers of SDHB mutations compared to mutations in other paraganglioma susceptibility genes, the aggressive behavior of SDHB-linked disease warrants intensive surveillance to identify and resect tumors early. Patients with similar SDHB genotypes in whom the PGL syndrome manifests often exhibit very heterogeneous phenotypes...
April 2017: Familial Cancer
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