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Hereditary Cancer in Clinical Practice

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https://www.readbyqxmd.com/read/29541281/cdkn2a-founder-mutation-in-pancreatic-ductal-adenocarcinoma-patients-without-cutaneous-features-of-familial-atypical-multiple-mole-melanoma-fammm-syndrome
#1
Carol Cremin, Sarah Howard, Lyly Le, Aly Karsan, David F Schaeffer, Daniel Renouf, Kasmintan A Schrader
Background: Approximately 5% to 10% of pancreatic ductal adenocarcinoma (PDAC) has a hereditary basis. In most of these defined hereditary cancer syndromes, PDAC is not the predominant cancer type. Traditional criteria for publicly funded genetic testing typically require the presence of a set combination of the predominant syndrome-associated cancer types in the family history.We report the identification of a CDKN2A pathogenic variant in a PDAC-prone family without the cutaneous features of multiple moles or melanoma that are characteristic of the Familial Atypical Multiple Mole Melanoma (FAMMM) Syndrome identified in a universal testing algorithm for inherited mutations in pancreatic cancer patients...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29492181/frequency-of-brca1-and-brca2-causative-founder-variants-in-ovarian-cancer-patients-in-south-east-poland
#2
Tomasz Kluz, Andrzej Jasiewicz, Elżbieta Marczyk, Robert Jach, Anna Jakubowska, Jan Lubiński, Steven A Narod, Jacek Gronwald
Background: Causative variants in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Poland, the causative founder variants in the BRCA1 are responsible for a significant proportion of ovarian cancer cases, however, regional differences in the frequencies of various mutations may exist. The spectrum and frequency of BRCA1/2 mutations between ovarian cancer patients have not yet been studied in the region of South-East Poland. Methods: We examined 158 consecutive unselected cases of ovarian cancer patients from the region of Podkarpacie...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29371908/genetic-variants-of-prospectively-demonstrated-phenocopies-in-brca1-2-kindreds
#3
Mev Dominguez-Valentin, D Gareth R Evans, Sigve Nakken, Hélène Tubeuf, Daniel Vodak, Per Olaf Ekstrøm, Anke M Nissen, Monika Morak, Elke Holinski-Feder, Alexandra Martins, Pål Møller, Eivind Hovig
Background: In kindreds carrying path_BRCA1/2 variants, some women in these families will develop cancer despite testing negative for the family's pathogenic variant. These families may have additional genetic variants, which not only may increase the susceptibility of the families' path_BRCA1/2, but also be capable of causing cancer in the absence of the path_BRCA1/2 variants. We aimed to identify novel genetic variants in prospectively detected breast cancer (BC) or gynecological cancer cases tested negative for their families' pathogenic BRCA1/2 variant (path_BRCA1 or path_BRCA2)...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29339979/-brca1-and-brca2-mutation-spectrum-an-update-on-mutation-distribution-in-a-large-cancer-genetics-clinic-in-norway
#4
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/29312473/central-nervous-system-gadolinium-accumulation-in-patients-undergoing-periodical-contrast-mri-screening-for-hereditary-tumor-syndromes
#5
Evelynn Vergauwen, Anne-Marie Vanbinst, Carola Brussaard, Peter Janssens, Dieter De Clerck, Michel Van Lint, Anne C Houtman, Olaf Michel, Kathelijn Keymolen, Bieke Lefevere, Susanne Bohler, Dirk Michielsen, Anna C Jansen, Vera Van Velthoven, Sven Gläsker
Background: Patients with hereditary tumor syndromes undergo periodical magnetic resonance imaging (MRI) screening with Gadolinium contrast. Gadolinium accumulation has recently been described in the central nervous system after repeated administrations. The prevalence and rate of accumulation in different subgroups of patients are unknown. Neither are the mechanism nor clinical impact. This may cause uncertainty about the screening. To explore the prevalence and rate of Gadolinium accumulation in different subgroups, we retrospectively analyzed MRIs of patients with von Hippel-Lindau disease (VHL) and Tuberous Sclerosis Complex (TSC)...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29308099/evaluation-of-a-27-gene-inherited-cancer-panel-across-630-consecutive-patients-referred-for-testing-in-a-clinical-diagnostic-laboratory
#6
Sabrina A Gardner, Katelyn S Weymouth, Wei S Kelly, Ekaterina Bogdanova, Wenjie Chen, Daniel Lupu, Joshua Suhl, Qiandong Zeng, Ute Geigenmüller, Debbie Boles, Patricia M Okamoto, Geraldine McDowell, Melissa A Hayden, Narasimhan Nagan
Background: Extensive clinical and genetic heterogeneity of inherited cancers has allowed multi-gene panel testing to become an efficient means for identification of patients with an inherited predisposition to a broad spectrum of syndromic and nonsyndromic forms of cancer. This study reports our experience with a 27-gene inherited cancer panel on a cohort of 630 consecutive individuals referred for testing at our laboratory with the following objectives: 1. Determine the rates for positive cases and those with variants of uncertain clinical significance (VUS) relative to data published in the recent literature, 2...
2018: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29213343/exome-sequencing-characterizes-the-somatic-mutation-spectrum-of-early-serrated-lesions-in-a-patient-with-serrated-polyposis-syndrome-sps
#7
Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, Michael Kloth, Robert Hüneburg, Janine Altmüller, Dmitriy Drichel, Margarete Odenthal, Glen Kristiansen, Christian Strassburg, Jacob Nattermann, Per Hoffmann, Peter Nürnberg, Reinhard Büttner, Holger Thiele, Philip Kahl, Isabel Spier, Stefan Aretz
Background: Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of multiple and/or large serrated polyps throughout the colon. A serrated polyp-CRC sequence (serrated pathway) of CRC formation has been postulated, however, to date only few molecular signatures of serrated neoplasia ( BRAF , KRAS, RNF43 mutations, CpG Island Methylation, MSI) have been described in a subset of SPS patients and neither the etiology of the syndrome nor the distinct genetic alterations during tumorigenesis have been identified...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29158857/the-brca2-variant-c-68-7-t-a-is-associated-with-breast-cancer
#8
Pål Møller, Eivind Hovig
Background: BRCA2 c.68-7T>A has been demonstrated to cause aberrant splicing and is possibly pathogenic. The population prevalence of the variant is 0.2%, which higher than usual for pathogenic BRCA2 variants. The pathogenicity of the variant is discussed. Methods: The outpatient genetic clinic at The Norwegian Radium Hospital, part of Oslo University Hospital, has invited breast cancer kindreds for genetic examinations and prospective follow-up of high risk patients since 1988...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29093764/clinical-and-genetic-characterization-of-hereditary-breast-cancer-in-a-chinese-population
#9
Wenjing Jian, Kang Shao, Qi Qin, Xiaohong Wang, Shufen Song, Xianming Wang
Background: Breast cancer develops as a result of multiple gene mutations in combination with environmental risk factors. Causative variants in genes such as BRCA1 and/or BRCA2 have been shown to account for hereditary nature of certain breast cancers. However,other genes, such as ATM, PALB2, BRIP1, CHEK, BARD1, while lower in frequency, may also increase breast cancer risk. There are few studies examining the role of these causative variants. Our study aimed to examine the clinical and genetic characterization of hereditary breast cancer in a Chinese population...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29046738/colorectal-cancer-incidence-in-path_mlh1-carriers-subjected-to-different-follow-up-protocols-a-prospective-lynch-syndrome-database-report
#10
Toni Seppälä, Kirsi Pylvänäinen, Dafydd Gareth Evans, Heikki Järvinen, Laura Renkonen-Sinisalo, Inge Bernstein, Elke Holinski-Feder, Paola Sala, Annika Lindblom, Finlay Macrae, Ignacio Blanco, Rolf Sijmons, Jacqueline Jeffries, Hans Vasen, John Burn, Sigve Nakken, Eivind Hovig, Einar Andreas Rødland, Kukatharmini Tharmaratnam, Wouter H de Vos Tot Nederveen Cappel, James Hill, Juul Wijnen, Mark Jenkins, Maurizio Genuardi, Kate Green, Fiona Lalloo, Lone Sunde, Miriam Mints, Lucio Bertario, Marta Pineda, Matilde Navarro, Monika Morak, Ian M Frayling, John-Paul Plazzer, Julian R Sampson, Gabriel Capella, Gabriela Möslein, Jukka-Pekka Mecklin, Pål Møller
BACKGROUND: We have previously reported a high incidence of colorectal cancer (CRC) in carriers of pathogenic MLH1 variants (path_MLH1 ) despite follow-up with colonoscopy including polypectomy. METHODS: The cohort included Finnish carriers enrolled in 3-yearly colonoscopy ( n  = 505; 4625 observation years) and carriers from other countries enrolled in colonoscopy 2-yearly or more frequently ( n  = 439; 3299 observation years). We examined whether the longer interval between colonoscopies in Finland could explain the high incidence of CRC and whether disease expression correlated with differences in population CRC incidence...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29026449/emotional-impact-on-the-results-of-brca1-and-brca2-genetic-test-an-observational-retrospective-study
#11
Sara Mella, Barbara Muzzatti, Riccardo Dolcetti, Maria Antonietta Annunziata
BACKGROUND: BRCA1 and BRCA2 mutations are associated with a higher risk of breast and ovarian tumors. This study evaluated the emotional states of women 1 month after having received the results of the genetic test and assessed eventual associations with the type of outcome, personal/familiar disease history and major socio-demographic variables. METHODS: The study, an observational retrospective one, involved 91 women, evaluated 1 month after receiving their results...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/29021870/the-potential-role-of-mirnas-in-therapy-of-breast-and-ovarian-cancers-associated-with-brca1-mutation
#12
REVIEW
Agnieszka Strumidło, Sylwia Skiba, Rodney J Scott, Jan Lubiński
Germline variants within BRCA1 or BRCA2 genes account for approximately 25% of familial aggregations of breast-ovarian cancers. Low or no expression of BRCA1 in breast and ovarian cancers is associated with a good clinical response to treatment with platinum therapies and PARP1 inhibitors. Recent studies demonstrated that microRNAs - small non-coding RNAs, involved in the control of gene expression, can decrease BRCA1 expression by targeting the 3'UTR region of the gene. This article reviews reported relationships between various miRNAs, such as miRNA-9, miRNA-146a, miRNA-182 miRNA-218, miRNA-638 and the response to cytostatic drugs, mainly to platins and PARP1 inhbitors, for the treatment of breast and ovarian cancer associated with BRCA1 mutations...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28943990/motivators-and-barriers-of-tamoxifen-use-as-risk-reducing-medication-amongst-women-at-increased-breast-cancer-risk-a-systematic-literature-review
#13
REVIEW
B Meiser, W K T Wong, M Peate, C Julian-Reynier, J Kirk, G Mitchell
BACKGROUND: Selective estrogen receptor modulators, such as tamoxifen, reduce breast cancer risk by up to 50% in women at increased risk for breast cancer. Despite tamoxifen's well-established efficacy, many studies show that most women are not taking up tamoxifen. This systematic literature review aimed to identify the motivators and barriers to tamoxifen use 's amongst high-risk women. METHODS: Using MEDLINE, PsycINFO, and Embase plus reviewing reference lists of relevant articles published between 1995 and 2016, 31 studies (published in 35 articles) were identified, which addressed high-risk women's decisions about risk-reducing medication to prevent breast cancer and were peer-reviewed primary clinical studies...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28943989/evaluation-of-psychosocial-aspects-in-participants-of-cancer-genetic-counseling
#14
Leivy Patricia González-Ramírez, Reyna Martínez-Arriaga, Erendira Camacho-Cárdenas, Azucena Del Toro-Valero, Antonio Oceguera-Villanueva, Livia Zagamé, Aída Araceli Silva-García, Adrián Daneri-Navarro
BACKGROUND: The instrument called "Hospital Anxiety and Depression Scale" (HADS) is frequently used to evaluate anxious and depressive symptomatology in patients who receive Cancer Genetic Counseling (CGC). However, this instrument cannot identify all of the psychosocial factors, such as the antecedents of the patients' emotional states or their concerns. The objective of the present research was to compare cases detected with psychosocial alterations by means of HADS and a Psychological Health Interview (PHI)...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28936272/hereditary-gynaecologic-cancers-in-nepal-a-proposed-model-of-care-to-serve-high-risk-populations-in-developing-countries
#15
Hanoon P Pokharel, Neville F Hacker, Lesley Andrews
BACKGROUND: Endometrial, ovarian and breast cancers are paradigms for global health disparity. Women living in the developing world continue to present in later stages of disease and have fewer options for treatment than those in developed countries. Risk reducing surgery is of proven benefit for women at high risk of gynaecological cancer. There is no specific model for identification and management of such women in the developing world. METHODS: We have integrated data from our published audit of a major gynaecological oncology centre at Royal Hospital for Women in Australia, with data from our survey and a focus group discussion of Nepalese gynaecological health care professionals regarding genetic testing, and findings from the literature...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28770017/preoperative-genetic-testing-impacts-surgical-decision-making-in-brca-mutation-carriers-with-breast-cancer-a-retrospective-cohort-analysis
#16
Siddhartha Yadav, Ashley Reeves, Sarah Campian, Amy Sufka, Dana Zakalik
BACKGROUND: The impact of timing of genetic testing on surgical decision making in women with breast cancer and BRCA mutation is not well known. METHODS: Women who were found to carry a deleterious BRCA mutation and had been diagnosed with breast cancer were identified from a database at Beaumont Health. Women who had received BRCA positive results at least a day prior to their index surgery were considered to be aware of their mutation status prior to surgery. Baseline characteristics and surgical choices were compared between women who were aware of their mutation status prior to surgery and those who were not...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28736585/late-onset-asymptomatic-pancreatic-neuroendocrine-tumor-a-case-report-on-the-phenotypic-expansion-for-men1
#17
Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, Jessica Jackson, Eric W Klee, Stephanie L Hines, John A Stauffer, Paldeep S Atwal
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidism affects the majority of MEN1 individuals by age 50 years. Additionally, MEN1 mutations trigger familial isolated hyperparathyroidism. We describe a seemingly unaffected 76-year-old female who presented to our Genetics Clinic with a family history of primary hyperparathyroidism and the identification of a pathogenic MEN1 variant...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28670351/hereditary-pancreatic-cancer-related-syndromes-and-clinical-perspective
#18
REVIEW
Sergio Carrera, Aintzane Sancho, Eider Azkona, Josune Azkuna, Guillermo Lopez-Vivanco
Pancreatic cancer is a very aggressive disease with a poor prognosis. The majority of them are attributed to sporadic causes, especially to many modifiable risk factors such as tobacco or alcohol abuse. The principal histologic subtype of pancreatic cancer is ductal adenocarcinoma. Pancreatic neuroendocrine tumors, which constitute a more indolent entity, represent second type of pancreatic cancer in terms of incidence. Individuals with a family history of pancreatic cancer carry an increased risk of developing the disease, which may be related to an underlying hereditary component...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28630657/arlts1-polymorphism-is-associated-with-an-increased-risk-of-familial-cancer-evidence-from-a-meta-analysis
#19
REVIEW
Yan Jiang, Chen-Yang Zhao, Li-Chun Cheng, Bing Xu, Hui-Yi Lv
Adenosine diphosphate (ADP)-ribosylation factor-like tumour suppressor gene 1(ARLTS1) might be associated with an increased risk of several types of familial cancers. However, previous studies have shown that cancer susceptibility is not completely consistent with ARLTS1 polymorphisms, and the precise mechanism remains unknown. Therefore, we conducted a meta-analysis of case-control studies by searching the PubMed, Embase, OVID, Science Direct and Chinese National Knowledge Infrastructure (CNKI) databases. In total, 12 studies met the inclusion criteria and were included in this meta-analysis...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28559958/hereditary-and-non-hereditary-branches-of-family-eligible-for-brca-test-cancers-in-other-sites
#20
M Digennaro, D Sambiasi, S Tommasi, B Pilato, S Diotaiuti, A Kardhashi, G Trojano, A Tufaro, A V Paradiso
BACKGROUND: The analysis of relationships of BRCA alterations with cancer at sites other than breast/ovary may provide innovative information concerning BRCA pathogenic role and support additional clinical decisions. Aim of this study is to compare presence of cancers in other sites in members of hereditary (H) and not-hereditary (nH) branches of families of patients eligible to BRCA test. METHODS: We retrospectively analyzed the incidence of cancer in other sites in members of 136 families eligible for hereditary breast/ovarian cancer genetic counseling at Centro Studi Tumori Eredo-familiari of our Institute; we compared the frequency of other cancer types in 1156 members of the H-branch with respect to 1062 members of nH-Branch...
2017: Hereditary Cancer in Clinical Practice
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