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Familial Cancer

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https://www.readbyqxmd.com/read/28204904/high-risk-individuals-perceptions-of-reproductive-genetic-testing-for-cdh1-mutations
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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/28120249/efficacy-versus-effectiveness-of-clinical-genetic-testing-criteria-for-brca1-and-brca2-hereditary-mutations-in-incident-breast-cancer
#9
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...
January 24, 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
#10
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
#11
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
#12
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/28004223/identification-of-msh2-inversion-of-exons-1-7-in-clinical-evaluation-of-families-with-suspected-lynch-syndrome
#13
Maureen E Mork, Andrea Rodriguez, Melissa W Taggart, Miguel A Rodriguez-Bigas, Patrick M Lynch, Sarah A Bannon, Y Nancy You, Eduardo Vilar
Traditional germline sequencing and deletion/duplication analysis does not detect Lynch syndrome-causing mutations in all individuals whose colorectal or endometrial tumors demonstrate mismatch repair (MMR) deficiency. Unique inversions and other rearrangements of the MMR genes have been reported in families with Lynch syndrome. In 2014, a recurrent inversion of MSH2 exons 1-7 was identified in five families suspected to have Lynch syndrome. We aimed to describe our clinical experience in identifying families with this specific inversion...
December 21, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27988859/atm-mutations-for-surgeons
#14
Sara A Mansfield, Robert Pilarski, Doreen M Agnese
The ataxia-telangiectasia mutated (ATM) gene encodes a protein kinase involved in DNA repair. Heterozygotic carriers are at an increased risk of developing breast cancer. As the use of genetic testing increases, identification of at-risk patients will also increase. The aim of this study is to review two cases of heterozygous ATM mutation carriers and review the literature to clarify the cancer risks and suggested management for breast surgeons who will be intimately involved in the care of these patients.
December 17, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27896549/embryonal-rhabdomyosarcoma-in-a-patient-with-a-heterozygous-frameshift-variant-in-the-dicer1-gene-and-additional-manifestations-of-the-dicer1-syndrome
#15
Julia Fremerey, Stefan Balzer, Triantafyllia Brozou, Joerg Schaper, Arndt Borkhardt, Michaela Kuhlen
Germline mutations in the DICER1 gene are associated with an inherited cancer predisposition syndrome also known as the DICER1-syndrome, which is implicated in a broad range of tumors including pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumors, ciliary body medulloepithelioma (CBME), pituitary blastoma, embryonal rhabdomyosarcoma (eRMS), anaplastic renal sarcoma as well as ocular, sinonasal tumors ovarian sex-cord tumors, thyroid neoplasia and cystic nephroma. This study describes a novel, heterozygous frameshift DICER1 mutation in a patient, who is affected by different tumors of the DICER1-syndrome, including eRMS, CBME and suspected pleuropulmonary blastoma type I...
November 28, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27896548/four-generations-of-sdhb-related-disease-complexities-in-management
#16
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...
November 28, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27722904/genetically-diagnosed-birt-hogg-dub%C3%A3-syndrome-and-familial-cerebral-cavernous-malformations-in-the-same-individual-a-case-report
#17
James Whitworth, Brian Stausbøl-Grøn, Anne-Bine Skytte
When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation...
January 2017: Familial Cancer
https://www.readbyqxmd.com/read/27677266/exploring-clinicians-attitudes-about-using-aspirin-for-risk-reduction-in-people-with-lynch-syndrome-with-no-personal-diagnosis-of-colorectal-cancer
#18
Yanni Chen, Michelle Peate, Rajneesh Kaur, Bettina Meiser, Tim Wong, Judy Kirk, Robyn L Ward, Annabel Goodwin, Finlay Macrae, Janet Hiller, Alison H Trainer, Gillian Mitchell
Recent research has shown that aspirin reduces the risk of cancers associated with Lynch Syndrome. However, uncertainty exists around the optimal dosage, treatment duration and whether the benefits of aspirin as a risk-reducing medication (RRM) outweigh adverse medication related side-effects. Little is known about clinicians' attitudes, current practice, and perceived barriers to recommending aspirin as a RRM. To explore the attitudes of clinicians who discuss risk management options with patients with Lynch Syndrome towards using aspirin as a RRM...
January 2017: Familial Cancer
https://www.readbyqxmd.com/read/27655252/pancreas-sparing-total-duodenectomy-for-spigelman-stage-iv-duodenal-polyposis-associated-with-familial-adenomatous-polyposis-experience-of-10-cases-at-a-single-institution
#19
Yuichiro Watanabe, Hideyuki Ishida, Hiroyuki Baba, Takeo Iwama, Atsushi Kudo, Minoru Tanabe, Hideki Ishikawa
Duodenal cancer is a leading cause of death in patients with familial adenomatous polyposis (FAP). In patients with Spigelman's classification (SC) stage IV duodenal polyposis (DP), careful endoscopic surveillance by specialists or surgical intervention is mandatory. We herein report the surgical and pathological outcomes of FAP patients with SC stage duodenal polyposis undergoing pancreas-sparing total duodenectomy (PSTD), which has been rarely reported but seems optimal in such patients. PSTD and distal gastrectomy with Billroth-I type reconstruction in ten consecutive FAP patients with SC stage IV DP are reported...
January 2017: Familial Cancer
https://www.readbyqxmd.com/read/27631816/association-of-monoallelic-mutyh-mutation-among-egyptian-patients-with-colorectal-cancer
#20
Afaf Elsaid, Rami Elshazli, Fatma El-Tarapely, Hossam Darwish, Camelia Abdel-Malak
Colorectal cancer (CRC) is a heterogeneous triat that involves both environmental and genetic factors. Genetic mutations of MUTYH (p.Y179C and p.G396D) have been reported to be associated with increased risk of CRC among several ethnic populations. The aim of this work is to assess the association of the monoallelic MUTYH mutations (p.Y179C and p.G396D) with increased risk of CRC among Egyptian patients. This study included 120 unrelated CRC Egyptian patients who were compared with 100 healthy controls from the same locality...
January 2017: Familial Cancer
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