keyword
MENU ▼
Read by QxMD icon Read
search

hereditary melanoma

keyword
https://www.readbyqxmd.com/read/27804060/uptake-of-genetic-counseling-genetic-testing-and-surveillance-in-hereditary-malignant-melanoma-cdkn2a-in-norway
#1
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...
November 1, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27638875/commentary-on-almassalha-et-al-the-greater-genomic-landscape-the-heterogeneous-evolution-of-cancer
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/26892865/familial-atypical-multiple-mole-melanoma-fammm-syndrome-history-genetics-and-heterogeneity
#8
Henry T Lynch, Trudy G Shaw
Approximately 5-10 % of cutaneous melanoma occurs in kindreds with a hereditary predisposition. Mutations in the CDKN2A gene are found to occur in approximately 20-40 % of these kindreds. The first historical mention of what is now called the familial atypical multiple mole melanoma syndrome appears to be from 1820, with more reports throughout the 1950s, 1960s, and later years. In 1991, Lynch and Fusaro described an association between familial multiple mole melanoma and pancreatic cancer and work continues to elucidate the syndrome's genotypic and phenotypic heterogeneity...
July 2016: Familial Cancer
https://www.readbyqxmd.com/read/26892651/hereditary-melanoma-update-on-syndromes-and-management-emerging-melanoma-cancer-complexes-and-genetic-counseling
#9
REVIEW
Efthymia Soura, Philip J Eliades, Kristen Shannon, Alexander J Stratigos, Hensin Tsao
Recent advances in cancer genomics have enabled the discovery of many cancer-predisposing genes that are being used to classify new familial melanoma/cancer syndromes. In addition to CDKN2A and CDK4, germline variants in TERT, MITF, and BAP1 have been added to the list of genes harboring melanoma-predisposing mutations. These newer entities may have escaped earlier description in part because of more advanced technologies now being used and in part because of their mixed cancer phenotype as opposed to a melanoma-focused syndrome...
March 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/26892650/hereditary-melanoma-update-on-syndromes-and-management-genetics-of-familial-atypical-multiple-mole-melanoma-syndrome
#10
REVIEW
Efthymia Soura, Philip J Eliades, Kristen Shannon, Alexander J Stratigos, Hensin Tsao
Malignant melanoma is considered the most lethal skin cancer if it is not detected and treated during its early stages. About 10% of melanoma patients report a family history of melanoma; however, individuals with features of true hereditary melanoma (ie, unilateral lineage, multigenerational, multiple primary lesions, and early onset of disease) are in fact quite rare. Although many new loci have been implicated in hereditary melanoma, CDKN2A mutations remain the most common. Familial melanoma in the presence of multiple atypical nevi should raise suspicion for a germline CDKN2A mutation...
March 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/26746459/familial-risk-and-heritability-of-cancer-among-twins-in-nordic-countries
#11
Lorelei A Mucci, Jacob B Hjelmborg, Jennifer R Harris, Kamila Czene, David J Havelick, Thomas Scheike, Rebecca E Graff, Klaus Holst, Sören Möller, Robert H Unger, Christina McIntosh, Elizabeth Nuttall, Ingunn Brandt, Kathryn L Penney, Mikael Hartman, Peter Kraft, Giovanni Parmigiani, Kaare Christensen, Markku Koskenvuo, Niels V Holm, Kauko Heikkilä, Eero Pukkala, Axel Skytthe, Hans-Olov Adami, Jaakko Kaprio
IMPORTANCE: Estimates of familial cancer risk from population-based studies are essential components of cancer risk prediction. OBJECTIVE: To estimate familial risk and heritability of cancer types in a large twin cohort. DESIGN, SETTING, AND PARTICIPANTS: Prospective study of 80,309 monozygotic and 123,382 same-sex dizygotic twin individuals (N = 203,691) within the population-based registers of Denmark, Finland, Norway, and Sweden. Twins were followed up a median of 32 years between 1943 and 2010...
January 5, 2016: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/26691938/-hereditary-breast-and-ovarian-cancer-syndrome
#12
K Petráková, M Palácová, M Schneiderová, M Standara
Population with hereditary breast and ovarian cancer syndrome, i.e. BRCA1/2 mutation carriers, are at higher risk of developing breast and ovarian cancer as well as other solid tumours such as pancreatic cancer, prostate cancer and melanoma. With the increasing experience, screening recommendations and preventive strategies including prophylactic surgery are being settled. Surveillance of women with hereditary breast cancer syndrome comprises clinical breast examination every six months, breast ultrasound and MRI in patients aged 25 to 29 and MRI and mammography in women aged 30 to 65...
2016: Klinická Onkologie: Casopis Ceské a Slovenské Onkologické Spolecnosti
https://www.readbyqxmd.com/read/26363541/genetic-testing-in-the-multidisciplinary-management-of-melanoma
#13
REVIEW
Omar M Rashid, Jonathan S Zager
Melanoma is increasing in incidence and represents an aggressive type of cancer. Efforts have focused on identifying genetic factors in melanoma carcinogenesis to guide prevention, screening, early detection, and targeted therapy. This article reviews the hereditary risk factors associated with melanoma and the known molecular pathways and genetic mutations associated with this disease. This article also explores the controversies associated with genetic testing and the latest advances in identifying genetic targets in melanoma, which offer promise for future application in the multidisciplinary management of melanoma...
October 2015: Surgical Oncology Clinics of North America
https://www.readbyqxmd.com/read/26178773/genetic-test-reporting-enhances-understanding-of-risk-information-and-acceptance-of-prevention-recommendations-compared-to-family-history-based-counseling-alone
#14
Jennifer M Taber, Lisa G Aspinwall, Tammy K Stump, Wendy Kohlmann, Marjan Champine, Sancy A Leachman
It is unknown whether or why genetic test reporting confers benefits in the understanding and management of cancer risk beyond what patients learn from counseling based on family history. A prospective nonexperimental control group study compared participants from melanoma-prone families who underwent CDKN2A/p16 (p16) genetic testing (27 carriers, 38 noncarriers) to participants from equivalently melanoma-prone families known not to carry a deleterious p16 mutation (31 no-test controls). All participants received equivalent counseling concerning elevated lifetime melanoma risk and corresponding recommendations for prevention and screening...
October 2015: Journal of Behavioral Medicine
https://www.readbyqxmd.com/read/26140217/bap1-hereditary-cancer-predisposition-syndrome-a-case-report-and-review-of-literature
#15
Sonja Klebe, Jack Driml, Masaki Nasu, Sandra Pastorino, Amirmasoud Zangiabadi, Douglas Henderson, Michele Carbone
A 72-year-old woman was diagnosed with uveal melanoma, peritoneal mesothelioma and a primary biliary tract adenocarcinoma. She had a strong family history of mesothelioma as well as other malignancies including renal cell carcinoma. The recently described BAP1 hereditary cancer predisposition syndrome was suspected, but immunohistochemical labeling was not conclusive. Genetic testing confirmed a novel and unusual germline mutation in the ubiquitin hydrolase domain of the BAP1 gene (p.Tyr173Cys) and the patient was diagnosed with the BAP1 hereditary cancer predisposition syndrome...
2015: Biomarker Research
https://www.readbyqxmd.com/read/26138335/ctla-4-blockade-synergizes-therapeutically-with-parp-inhibition-in-brca1-deficient-ovarian-cancer
#16
Tomoe Higuchi, Dallas B Flies, Nicole A Marjon, Gina Mantia-Smaldone, Lukas Ronner, Phyllis A Gimotty, Sarah F Adams
Immune checkpoint blockade has shown significant therapeutic efficacy in melanoma and other solid tumors, but results in ovarian cancer have been limited. With evidence that tumor immunogenicity modulates the response to checkpoint blockade, and data indicating that BRCA-deficient ovarian cancers express higher levels of immune response genes, we hypothesized that BRCA(-) ovarian tumors would be vulnerable to checkpoint blockade. To test this hypothesis, we used an immunocompetent BRCA1-deficient murine ovarian cancer model to compare treatment with CTLA-4 or PD-1/PD-L1 antibodies alone or combined with targeted cytotoxic therapy using a PARP inhibitor...
November 2015: Cancer Immunology Research
https://www.readbyqxmd.com/read/26122011/association-of-microrna-146a-polymorphism-rs2910164-and-the-risk-of-melanoma-in-an-italian-population
#17
LETTER
Macarena Gomez-Lira, Silvia Ferronato, Elisa Orlandi, Anna Dal Molin, Giovanni Malerba, Simona Frigerio, Monica Rodolfo, Maria Grazia Romanelli
No abstract text is available yet for this article.
October 2015: Experimental Dermatology
https://www.readbyqxmd.com/read/26099287/discussion-of-photoprotection-screening-and-risk-behaviors-with-children-and-grandchildren-after-melanoma-genetic-testing
#18
Yelena P Wu, Lisa G Aspinwall, Timothy C Michaelis, Tammy Stump, Wendy G Kohlmann, Sancy A Leachman
The purpose of the current study was to examine changes in frequency of discussion about melanoma preventive behaviors among adults who received melanoma genetic test reporting and counseling and their children and grandchildren, correspondence of frequency of discussion with intentions, and content of discussions. Participants received CDKN2A/p16 testing and counseling (N = 24, 46 % p16-positive). Discussions about preventive behaviors were assessed before testing and 1 and 6 months post-testing. Intentions to discuss preventive behaviors and perceived preparedness to discuss risk were assessed post-testing...
January 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/26096145/comprehensive-review-of-bap1-tumor-predisposition-syndrome-with-report-of-two-new-cases
#19
REVIEW
K Rai, R Pilarski, C M Cebulla, M H Abdel-Rahman
The BRCA1-associated protein-1 (BAP1) tumor predisposition syndrome (BAP1-TPDS) is a recently identified hereditary cancer syndrome. Germline mutations in this tumor suppressor gene predispose families to the development of various malignancies. The molecular functions of the gene as well as the clinical phenotype of the syndrome are still being clarified. We sought to conduct a comprehensive review of published research into BAP1-TPDS to more thoroughly delineate the clinical implications of germline BAP1 mutations...
March 2016: Clinical Genetics
https://www.readbyqxmd.com/read/25959245/a-histomorphologic-comparison-of-familial-and-sporadic-pancreatic-cancers
#20
COMPARATIVE STUDY
Aatur D Singhi, Hiroyuki Ishida, Syed Z Ali, Michael Goggins, Marcia Canto, Christopher L Wolfgang, Zina Meriden, Nicholas Roberts, Alison P Klein, Ralph H Hruban
BACKGROUND: It is estimated that approximately 10% of pancreatic cancers have a familial component. Many inheritable genetic syndromes are associated with increased risk of pancreatic cancer, such as Peutz-Jeghers syndrome, hereditary breast-ovarian cancer and familial atypical multiple mole melanoma, but these conditions account for only a minority of familial pancreatic cancers. Previous studies have identified an increased prevalence of noninvasive precursor lesions, including pancreatic intraepithelial neoplasia, in the pancreata of patients with a strong family history of pancreatic cancer...
July 2015: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
keyword
keyword
76829
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"