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Familial Cancer

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https://www.readbyqxmd.com/read/28534081/power-of-pedigree-likelihood-analysis-in-extended-pedigrees-to-classify-rare-variants-of-uncertain-significance-in-cancer-risk-genes
#1
Elisabeth A Rosenthal, John Michael O Ranola, Brian H Shirts
Rare and private variants of uncertain significance (VUS) are routinely identified in clinical panel, exome, and genome sequencing. We investigated the power of single family co-segregation analysis to aid classification of VUS. We simulated thousands of pedigrees using demographics in China and the United States, segregating benign and pathogenic variants. Genotypes and phenotypes were simulated using penetrance models for Lynch syndrome and breast/ovarian cancer. We calculated LOD scores adjusted for proband ascertainment (LODadj), to determine power to yield quantitative evidence for, or against, pathogenicity of the VUS...
May 22, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#2
A M Cock-Rada, C A Ossa, H I Garcia, L R Gomez
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28528517/loss-of-msh2-and-msh6-due-to-heterozygous-germline-defects-in-msh3-and-msh6
#3
Monika Morak, Sarah Käsbauer, Martina Kerscher, Andreas Laner, Anke M Nissen, Anna Benet-Pagès, Hans K Schackert, Gisela Keller, Trisari Massdorf, Elke Holinski-Feder
Lynch Syndrome (LS) is the most common dominantly inherited colorectal cancer (CRC) predisposition and is caused by a heterozygous germline defect in one of the DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, or PMS2. High microsatellite instability (MSI-H) and loss of MMR protein expression in tumours reflecting a defective MMR are indicators for LS, as well as a positive family history of early onset CRC. MSH2 and MSH6 form a major functional heterodimer, and MSH3 is an alternative binding partner for MSH2...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28509937/next-generation-sequencing-is-informing-phenotype-a-tp53-example
#4
R O'Shea, R Clarke, E Berkley, C Giffney, M Farrell, E O'Donovan, D J Gallagher
The increased availability of next generation sequencing (NGS) and multi gene panel testing has resulted in more frequent TP53 testing of families that do not meet classic testing criteria. We investigated testing criteria, family history and result outcome in a cohort of Irish probands undergoing TP53 full sequencing. All TP53 test requests processed through the national genetic testing laboratory between 2012 and 2014 were retrospectively reviewed. Personal and family cancer histories were collected, including tumour type and age at diagnosis, from two adult cancer genetic services in Ireland...
May 16, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28508326/the-association-of-low-penetrance-genetic-risk-modifiers-with-colorectal-cancer-in-lynch-syndrome-patients-a-systematic-review-and-meta-analysis
#5
REVIEW
Neil Donald, Salim Malik, Joshua L McGuire, Kevin J Monahan
Lynch syndrome (LS) is a highly penetrant inherited cancer predisposition syndrome accounting for approximately 1000 cases of colorectal cancer (CRC) in the UK annually. LS is characterised by autosomal dominant inheritance and germline mutations in DNA mismatch repair genes. The penetrance is highly variable and the reasons for this have not been fully elucidated. This study investigates whether low penetrance genetic risk factors may result in phenotype modification in LS patients. To conduct a systematic literature review and meta-analysis to assess the association between low penetrance genetic risk modifiers and CRC in LS patients...
May 15, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28501958/heightened-perception-of-breast-cancer-risk-in-young-women-at-risk-of-familial-breast-cancer
#6
Rachael Glassey, Moira O'Connor, Angela Ives, Christobel Saunders, Sarah O'Sullivan, Sarah J Hardcastle
The objective of this study was to explore the factors that influence perceived personal risk of developing breast cancer (BC) in younger women (<35) who are considering or have undergone bilateral prophylactic mastectomy (BPM). Qualitative interviews guided by interpretative phenomenological analysis were conducted with 46 women who had a strong family history of BC and had either undergone (n = 26) or were considering (n = 20) BPM. Participants were recruited from Australia and New Zealand via hospitals, a genetics clinic, a research cohort, a registry and online...
May 13, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28493033/is-there-a-genetic-anticipation-in-breast-and-or-ovarian-cancer-families-with-the-germline-c-3481_3491del11-mutation
#7
R El Tannouri, E Albuisson, P Jonveaux, E Luporsi
The aim of the current analysis is to evaluate any differences of breast or ovarian cancer age at diagnosis between mothers and daughters carrying the c.3481_3491del11 mutation in the BRCA1 gene. A study cohort of 38 women carrying the c.3481_3491del11 mutation and affected by first breast or ovarian cancer who reported a first breast or ovarian cancer in their mother carrying the c.3481_3491del11 mutation, was identified in 37 different families including members with breast and/or ovarian cancer at the Oncology Institute of Lorraine...
May 10, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28477318/molecular-characterization-and-clinical-interpretation-of-brca1-brca2-variants-in-families-from-murcia-south-eastern-spain-with-hereditary-breast-and-ovarian-cancer-clinical-pathological-features-in-brca-carriers-and-non-carriers
#8
Xavier Gabaldó Barrios, Mª Desamparados Sarabia Meseguer, Miguel Marín Vera, Ana Isabel Sánchez Bermúdez, José Antonio Macías Cerrolaza, Pilar Sánchez Henarejos, Marta Zafra Poves, Mª Rosario García Hernández, Encarna Cuevas Tortosa, Ángeles Aliaga Baño, Verónica Castillo Guardiola, Pedro Martínez Hernández, Isabel Tovar Zapata, Enrique Martínez Barba, Francisco Ayala de la Peña, José Luis Alonso Romero, José Antonio Noguera Velasco, Francisco Ruiz Espejo
This is the first study performed in Murcia (south-eastern Spain) in which 592 families with hereditary breast and ovarian cancer were identified thanks to Genetic Counselling Units from this area over 6 years. Diagnostic performance was 18.1% and 194 different genetic variants were obtained. Variants with uncertain significance accounted for only 5.6% of the total number of reports, so our population has been well characterised. In BRCA1 gene, two novel variants were found (c.1859delT and c.3205C > T) and the most frequently detected mutations were c...
May 5, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28477317/tp53-germline-and-somatic-mutations-in-a-patient-with-fibrolamellar-hepatocellular-carcinoma
#9
Raissa C Andrade, Maria A F D de Lima, Paulo A S de Faria, Fernando R Vargas
Li-Fraumeni syndrome is a rare hereditary cancer predisposition syndrome associated with germline pathogenic variants in TP53 gene. The phenotype may vary from classical to variant forms, known as Li-Fraumeni-like phenotypes. We searched for pathogenic variants in TP53 in a 14 year-old female diagnosed with fibrolamellar hepatocellular carcinoma, a rare subtype of hepatocellular carcinoma. The proband is a heterozygote carrier of the TP53 c.467G>A (p.Arg156His) in exon 5, and her mother is an asymptomatic carrier...
May 5, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28477316/gestational-choriocarcinoma-associated-with-a-germline-tp53-mutation
#10
Anne-Claire Brehin, Sophie Patrier-Sallebert, Gaëlle Bougeard, Gwendoline Side-Pfennig, Francisco Llamas Gutierrez, Aude Lamy, Elodie Colasse, Christine Kandel-Aznar, Capucine Delnatte, Eric Vuillemin, Sophie Sadot-Lebouvier, Sylvie Odent, Jean-Christophe Sabourin, François Golfier, Thierry Frebourg
Choriocarcinoma is a highly malignant neoplasm resulting from the malignant transformation of proliferating trophoblastic cells and the molecular mechanisms leading to this transformation remain to be characterized. We report here the first case of a female germline TP53 mutation carrier who developed, as a first tumour, a lung choriocarcinoma, 6 months after a normal delivery. Molecular analyses established the gestational origin of the choriocarcinoma and showed, within the tumour, the presence of the germline mutant TP53 allele and loss of the wild-type allele...
May 5, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28455554/placing-negative-multi-gene-panel-results-into-clinical-context
#11
LETTER
David J Hermel, Wendy C McKinnon, Marie E Wood, Marc S Greenblatt
No abstract text is available yet for this article.
April 28, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28434157/general-practitioner-attitudes-towards-prescribing-aspirin-to-carriers-of-lynch-syndrome-findings-from-a-national-survey
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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