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https://www.readbyqxmd.com/read/28620008/pten-dicer1-fh-and-their-associated-tumor-susceptibility-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#1
REVIEW
Kris Ann P Schultz, Surya P Rednam, Junne Kamihara, Leslie Doros, Maria Isabel Achatz, Jonathan D Wasserman, Lisa R Diller, Laurence Brugières, Harriet Druker, Katherine A Schneider, Rose B McGee, William D Foulkes
PTEN hamartoma tumor syndrome (PHTS), DICER1 syndrome, and hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome are pleiotropic tumor predisposition syndromes that include benign and malignant neoplasms affecting adults and children. PHTS includes several disorders with shared and distinct clinical features. These are associated with elevated lifetime risk of breast, thyroid, endometrial, colorectal, and renal cancers as well as melanoma. Thyroid cancer represents the predominant cancer risk under age 20 years...
June 15, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28609837/familial-pancreatic-cancer-and-the-future-of-directed-screening
#2
REVIEW
Sara Welinsky, Aimee L Lucas
Pancreatic cancer (PC) is the third most common cause of cancer-related death in the United States and the 12th most common worldwide. Mortality is high, largely due to late stage of presentation and suboptimal treatment regimens. Approximately 10% of PC cases have a familial basis. The major genetic defect has yet to be identified but may be inherited by an autosomal dominant pattern with reduced penetrance. Several known hereditary syndromes or genes are associated with an increased risk of developing PC and account for approximately 2% of PCs...
June 15, 2017: Gut and Liver
https://www.readbyqxmd.com/read/28601631/ibt-based-quantitative-proteomics-identifies-potential-regulatory-proteins-involved-in-pigmentation-of-purple-sea-cucumber-apostichopus-japonicus
#3
Lili Xing, Lina Sun, Shilin Liu, Xiaoni Li, Libin Zhang, Hongsheng Yang
Sea cucumbers are an important economic species and exhibit high yield value among aquaculture animals. Purple sea cucumbers are very rare and beautiful and have stable hereditary patterns. In this study, isobaric tags (IBT) were first used to reveal the molecular mechanism of pigmentation in the body wall of the purple sea cucumber. We analyzed the proteomes of purple sea cucumber in early pigmentation stage (Pa), mid pigmentation stage (Pb) and late pigmentation stage (Pc), resulting in the identification of 5580 proteins, including 1099 differentially expressed proteins in Pb: Pa and 339 differentially expressed proteins in Pc: Pb...
June 2, 2017: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
https://www.readbyqxmd.com/read/28592523/germline-cdkn2a-p16ink4a-mutations-contribute-to-genetic-determinism-of-sarcoma
#4
Fanélie Jouenne, Isaure Chauvot de Beauchene, Emeline Bollaert, Marie-Françoise Avril, Olivier Caron, Olivier Ingster, Axel Lecesne, Patrick Benusiglio, Philippe Terrier, Vincent Caumette, Daniel Pissaloux, Arnaud de la Fouchardière, Odile Cabaret, Birama N'Diaye, Amélie Velghe, Gaelle Bougeard, Graham J Mann, Serge Koscielny, Jennifer H Barrett, Mark Harland, Julia Newton-Bishop, Nelleke Gruis, Remco Van Doorn, Marion Gauthier-Villars, Gaelle Pierron, Dominique Stoppa-Lyonnet, Isabelle Coupier, Rosine Guimbaud, Capucine Delnatte, Jean-Yves Scoazec, Alexander M Eggermont, Jean Feunteun, Luba Tchertanov, Jean-Baptiste Demoulin, Thierry Frebourg, Brigitte Bressac-de Paillerets
BACKGROUND: Sarcomas are rare mesenchymal malignancies whose pathogenesis is poorly understood; both environmental and genetic risk factors could contribute to their aetiology. METHODS AND RESULTS: We performed whole-exome sequencing (WES) in a familial aggregation of three individuals affected with soft-tissue sarcoma (STS) without TP53 mutation (Li-Fraumeni-like, LFL) and found a shared pathogenic mutation in CDKN2A tumour suppressor gene. We searched for individuals with sarcoma among 474 melanoma-prone families with a CDKN2A-/+ genotype and for CDKN2A mutations in 190 TP53-negative LFL families where the index case was a sarcoma...
June 7, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28561672/pancreatic-adenocarcinoma-improving-prevention-and-survivorship
#5
Davendra P S Sohal, Field F Willingham, Massimo Falconi, Kara L Raphael, Stefano Crippa
Pancreatic cancer is a growing problem in oncology, given slowly rising incidence and continued suboptimal outcomes. A concerted effort to reverse this tide will require prevention, early diagnosis, and improved systemic therapy for curable disease. We focus on these aspects in detail in this study. Hereditary pancreatic cancer is an underappreciated area. With the growing use of genomics (both somatic and germline) in cancer care, there is increasing recognition of hereditary pancreatic cancer cases: around 10% of all pancreatic cancer may be related to familial syndromes, such as familial atypical multiple mole and melanoma (FAMMM) syndrome, hereditary breast and ovarian cancer, Lynch syndrome, and Peutz-Jeghers syndrome...
2017: American Society of Clinical Oncology Educational Book
https://www.readbyqxmd.com/read/28547663/pediatric-predispositional-genetic-risk-communication-potential-utility-for-prevention-and-control-of-melanoma-risk-as-an-exemplar
#6
Yelena P Wu, Darren Mays, Wendy Kohlmann, Kenneth P Tercyak
Predispositional genetic testing among minor children is intensely debated due to the potential benefits and harms of providing this type of genetic information to children and their families. Existing guidelines on pediatric genetic testing state that predispositional testing could be appropriate for minors if preventive services exist that mitigate children's risk for or severity of the health condition in question. We use the example of hereditary melanoma to illustrate the rationale for and potential application of genetic risk communication for an adult-onset cancer to a pediatric population where childhood behaviors may reduce risk of disease later in life...
May 25, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28469991/donor-transmitted-melanoma-after-limbal-stem-cell-transplantation
#7
Anas Alsara, Muhammad Rafi
Limbal Stem Cells are a unique cell line located at the corneal limbus. They are responsible for regenerating and restoring corneal epithelial layers. Limbal stem cell transplantation is a promising technique that has been used to treat several hereditary and acquired corneal diseases. Cornea tissue lack vascularity. Hence, there were no special restrictions on collecting ocular tissues from donors with a diagnosis of metastatic melanoma. We are reporting a case of a patient who developed an ocular melanoma after she had limbal stem cell transplantation from a donor with history of melanoma...
April 2017: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/28400895/melanoma-and-basal-cell-carcinoma-in-the-hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome-an-expansion-of-the-oncologic-spectrum
#8
Lacy L Sommer, Rhonda E Schnur, Warren R Heymann
BACKGROUND: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is an autosomal dominant syndrome due to mutation in fumarate hydratase. Patients with HLRCC frequently develop cutaneous and uterine leiomyomata and are at risk for renal cell carcinoma. Rarely, other malignancies have been reported. MAIN OBSERVATIONS: We report the development of basal cell carcinoma and melanoma in two siblings with genetically-confirmed HLRCC. CONCLUSIONS: It is unclear whether the development of melanoma and basal cell carcinoma in our patients is due directly to their mutations in the gene encoding fumarate hydratase, or genetic susceptibility at another unrelated locus, or whether these are incidental lesions...
November 30, 2016: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28389767/a-new-pot1-germline-mutation-expanding-the-spectrum-of-pot1-associated-cancers
#9
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/28283772/identification-genetic-testing-and-management-of-hereditary-melanoma
#10
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo
Several distinct melanoma syndromes have been defined, and genetic tests are available for the associated causative genes. Guidelines for melanoma genetic testing have been published as an informal "rule of twos and threes," but these guidelines apply to CDKN2A testing and are not intended for the more recently described non-CDKN2A melanoma syndromes. In order to develop an approach for the full spectrum of hereditary melanoma patients, we have separated melanoma syndromes into two types: "melanoma dominant" and "melanoma subordinate...
March 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28243543/development-and-validation-of-a-36-gene-sequencing-assay-for-hereditary-cancer-risk-assessment
#11
Valentina S Vysotskaia, Gregory J Hogan, Genevieve M Gould, Xin Wang, Alex D Robertson, Kevin R Haas, Mark R Theilmann, Lindsay Spurka, Peter V Grauman, Henry H Lai, Diana Jeon, Genevieve Haliburton, Matt Leggett, Clement S Chu, Kevin Iori, Jared R Maguire, Kaylene Ready, Eric A Evans, Hyunseok P Kang, Imran S Haque
The past two decades have brought many important advances in our understanding of the hereditary susceptibility to cancer. Numerous studies have provided convincing evidence that identification of germline mutations associated with hereditary cancer syndromes can lead to reductions in morbidity and mortality through targeted risk management options. Additionally, advances in gene sequencing technology now permit the development of multigene hereditary cancer testing panels. Here, we describe the 2016 revision of the Counsyl Inherited Cancer Screen for detecting single-nucleotide variants (SNVs), short insertions and deletions (indels), and copy number variants (CNVs) in 36 genes associated with an elevated risk for breast, ovarian, colorectal, gastric, endometrial, pancreatic, thyroid, prostate, melanoma, and neuroendocrine cancers...
2017: PeerJ
https://www.readbyqxmd.com/read/28191008/the-nlrp3-and-pyrin-inflammasomes-implications-in-the-pathophysiology-of-autoinflammatory-diseases
#12
REVIEW
Carlos de Torre-Minguela, Pablo Mesa Del Castillo, Pablo Pelegrín
Inflammasomes are multiprotein complexes that critically control different aspects of innate and adaptive immunity. Among them we could highlight the release of pro-inflammatory cytokines that induce and maintain the inflammatory response. Usually, inflammasomes result from oligomerization of a nucleotide-binding domain-like receptor (NLR) after sensing different pathogenic or endogenous sterile dangerous signals; however, other proteins such as absent in melanoma 2, retinoic acid-inducible gene I, or pyrin could also form inflammasome platforms...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28068157/cancer-survivors-preference-for-follow-up-care-providers-a-cross-sectional-study-from-the-population-based-profiles-registry
#13
Lotte J Huibertse, Mies van Eenbergen, Belle H de Rooij, Maarten T Bastiaens, Laurent M C L Fossion, Rob B de la Fuente, Paul J M Kil, Evert L Koldewijn, A H P Meier, Roland J M Mommers, A Q Niemer, Jorg R Oddens, Eric H G M Oomens, Mandy Prins, Kees-Peter de Roos, Monique R T M Thissen, Martine W H Timmermans, Bart P Wijsman, Lonneke V van de Poll-Franse, Nicole P M Ezendam
BACKGROUND: The best practice for the organization of follow-up care in oncology is under debate, due to growing numbers of cancer survivors. Understanding survivors' preferences for follow-up care is elementary for designing patient-centred care. Based on data from prostate cancer and melanoma survivors, this study aims to identify: 1) preferences for follow-up care providers, for instance the medical specialist, the oncology nurse or the general practitioner; 2) characteristics associated with these preferences and 3) the preferred care provider to discuss cancer-related problems...
February 2017: Acta Oncologica
https://www.readbyqxmd.com/read/27804060/uptake-of-genetic-counseling-genetic-testing-and-surveillance-in-hereditary-malignant-melanoma-cdkn2a-in-norway
#14
Trine Levin, Lovise Mæhle
Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer. In order to find out if the behavior pattern in families with a CDKN2A mutation is similar to what we previously have described in families with a BRCA1 mutation, we have studied the uptake of genetic services in probands and their relatives. We describe whether they attend genetic counseling when invited, whether they want a mutation test after being counseled and whether they adhere to recommendations for surveillance...
April 2017: Familial Cancer
https://www.readbyqxmd.com/read/27638875/commentary-on-almassalha-et-al-the-greater-genomic-landscape-the-heterogeneous-evolution-of-cancer
#15
Henry T Lynch, Marc Rendell, Trudy G Shaw, Peter Silberstein, Binh T Ngo
In this issue of Cancer Research, Almassalha and colleagues have proposed a new concept of the development of malignancy, that of the greater genomic landscape. They propose a stressor-related exploration of intracellular genomic sites as a response mechanism. This process can express sites with beneficial or deleterious effects, among them those that promote cell proliferation. They point out that their conception is broader, although certainly inclusive, of the process of gene induction. The authors view the physical process of chromatin reorganization as central to the exploration of the genomic landscape...
October 1, 2016: Cancer Research
https://www.readbyqxmd.com/read/27539899/the-present-status-of-xeroderma-pigmentosum-in-japan-and-a-tentative-severity-classification-scale
#16
Eiji Nakano, Taro Masaki, Fumio Kanda, Ryusuke Ono, Seiji Takeuchi, Shinichi Moriwaki, Chikako Nishigori
Xeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease. Patients with XP have severe hypersensitivity to sunlight, resulting in skin cancers, and some patients have neurological symptoms. In Japan, XP complementation group A (XP-A) is the most common form, and it is associated with severe neurological symptoms. We performed a nationwide survey on XP to determine the present status of XP in Japan. The distribution of complementation groups in Japan was considerably different from that in other countries, but there was a higher frequency in group A and the variant type, which is similar to previous reports in Japan...
August 2016: Experimental Dermatology
https://www.readbyqxmd.com/read/27215746/are-there-indications-for-total-pancreatectomy-in-2016
#17
REVIEW
Åke Andrén-Sandberg, Christoph Ansorge, Thakur Deen Yadav
An elective total pancreatectomy (TP) was first performed by Eugene Rockey of Portland, Oregon, in 1942. In the 1960s and 1970s, TP was the routine resection for pancreatic cancer in many centers because of fear of a leaking pancreatojejunostomy and multicentricity of the disease but the result used to be dreadful (in today's perspective). However, more recently, postoperative mortality and morbidity after pancreatic resections have improved due to better anastomotic technique and pre-, peri- and postoperative care...
2016: Digestive Surgery
https://www.readbyqxmd.com/read/27197874/distinctive-features-of-single-nucleotide-alterations-in-induced-pluripotent-stem-cells-with-different-types-of-dna-repair-deficiency-disorders
#18
Kohji Okamura, Hironari Sakaguchi, Rie Sakamoto-Abutani, Mahito Nakanishi, Ken Nishimura, Mayu Yamazaki-Inoue, Manami Ohtaka, Vaiyapuri Subbarayan Periasamy, Ali Abdullah Alshatwi, Akon Higuchi, Kazunori Hanaoka, Kazuhiko Nakabayashi, Shuji Takada, Kenichiro Hata, Masashi Toyoda, Akihiro Umezawa
Disease-specific induced pluripotent stem cells (iPSCs) have been used as a model to analyze pathogenesis of disease. In this study, we generated iPSCs derived from a fibroblastic cell line of xeroderma pigmentosum (XP) group A (XPA-iPSCs), a rare autosomal recessive hereditary disease in which patients develop skin cancer in the areas of skin exposed to sunlight. XPA-iPSCs exhibited hypersensitivity to ultraviolet exposure and accumulation of single-nucleotide substitutions when compared with ataxia telangiectasia-derived iPSCs that were established in a previous study...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27075349/diagnosis-and-management-of-hereditary-pancreatic-cancer
#19
Jeremy L Humphris, Andrew V Biankin
Hereditary pancreatic cancer can be diagnosed through family history and/or a personal history of pancreatitis or clinical features suggesting one of the known pancreatic cancer predisposition syndromes. This chapter describes the currently known hereditary pancreatic cancer predisposition syndromes, including Peutz-Jeghers syndrome, familial atypical multiple mole melanoma, hereditary breast and ovarian cancer, Li-Fraumeni syndrome, hereditary non-polyposis colon cancer and familial adenomatous polyposis. Strategies for genetic testing for hereditary pancreatic cancer and the appropriate options for surveillance and cancer risk reduction are discussed...
2016: Recent Results in Cancer Research
https://www.readbyqxmd.com/read/26929670/malignant-melanoma-of-the-nasal-septum-a-rare-tumor-occurring-in-a-54-year-old-patient-after-hereditary-retinoblastoma-treatment
#20
Windinmanégdé Pierre Djiguimdé, Ibrahim Abib Diomandé, Nicolas Bonnin, Nicolas Saroul, Abdoulaye Touré, Jérôme Sanou, Paté Sankara, Marc Russier, Laurent Gilain, Ahgbatouhabéba Ahnoux-Zabsonré, Nonfounikoun Meda, Franck Bacin
The authors report a case of a malignant melanoma of the nasal cavity that is a rare tumor and very aggressive, constituting 1% of all melanomas. It appeared in a patient 54 years after he was treated for a hereditary retinoblastoma. Its symptoms are nonspecific, and often marked by epistaxis. Its diagnosis is histological, supported by immunohistochemistry. Its prognosis is often unfavorable, and characterized by the occurrence of metastases and recurrences. Because of the risk of secondary cancer that exists in any survivor of hereditary retinoblastoma, we must think of possible mucosal melanoma of the nasal sinus in these patients in cases of chronic epistaxis...
2016: International Medical Case Reports Journal
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