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https://www.readbyqxmd.com/read/29593922/nivolumab-induced-encephalitis-in-hereditary-leiomyomatosis-and-renal-cell-cancer-syndrome
#1
Benjamin Chaucer, Abriella Stone, Augustus Demanes, Shawn M Seibert
The treatment of cancer is a rapidly evolving field. As more chemotherapeutic agents become available, reporting the side effects of these agents in clinical practice becomes increasingly important. Nivolumab is one of the chemotherapeutic agents commonly used for treatment of renal cell carcinoma, metastatic melanoma, and metastatic non-small cell lung cancer. While common side effects are known and well documented, encephalitis is documented as an extremely rare side effect. We present the case of an extremely rare side effect to a common chemotherapeutic agent...
2018: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/29562816/family-history-of-cancer-as-surrogate-predictor-for-immunotherapy-with-anti-pd1-pd-l1-agents-preliminary-report-of-the-fami-l1-study
#2
Alessio Cortellini, Melissa Bersanelli, Sebastiano Buti, Elisabetta Gambale, Francesco Atzori, Federica Zoratto, Alessandro Parisi, Davide Brocco, Annagrazia Pireddu, Katia Cannita, Daniela Iacono, Maria R Migliorino, Teresa Gamucci, Michele De Tursi, Tina Sidoni, Maria Tiseo, Maria Michiara, Anselmo Papa, Gesuino Angius, Silverio Tomao, Maria C Fargnoli, Clara Natoli, Corrado Ficorella
AIM: Tumors related to hereditary susceptibility seem to have an immunosensitive phenotype. MATERIALS & METHODS: We conducted a multicenter retrospective study, to investigate if family history of cancer, multiple neoplasms and early onset of cancer could be related to clinical outcomes of anti-PD-1/PD-L1 therapy. Activity and efficacy data of 211 advanced cancer patients (kidney, non-small-cell lung cancer, melanoma, urothelium, colorectal and HeN), treated at seven Italian centers with anti-PD-1/PD-L1 agents, were analyzed...
March 22, 2018: Immunotherapy
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
#3
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/29522175/rare-variant-gene-based-association-study-of-hereditary-melanoma-using-whole-exome-sequencing
#4
Mykyta Artomov, Alexander J Stratigos, Ivana Kim, Raj Kumar, Martin Lauss, Bobby Y Reddy, Benchun Miao, Carla Daniela Robles-Espinoza, Aravind Sankar, Ching-Ni Njauw, Kristen Shannon, Evangelos S Gragoudas, Anne Marie Lane, Vivek Iyer, Julia A Newton-Bishop, D Timothy Bishop, Elizabeth A Holland, Graham J Mann, Tarjinder Singh, Mark J Daly, Hensin Tsao
Background: Extraordinary progress has been made in our understanding of common variants in many diseases, including melanoma. Because the contribution of rare coding variants is not as well characterized, we performed an exome-wide, gene-based association study of familial cutaneous melanoma (CM) and ocular melanoma (OM). Methods: Using 11 990 jointly processed individual DNA samples, whole-exome sequencing was performed, followed by large-scale joint variant calling using GATK (Genome Analysis ToolKit)...
December 1, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29507792/the-genetic-susceptibility-in-the-development-of-malignant-pleural-mesothelioma
#5
REVIEW
Ombretta Melaiu, Federica Gemignani, Stefano Landi
Malignant pleural mesothelioma (MPM) is a cancer of the pleural cavity whose main risk factor is exposure to asbestos. However, it has been shown that only a minority of exposed people develops MPM. In fact, the incidence among professionally exposed workers was shown to vary between 0.5% and 18.0%. Various hints suggested that other important cofactors could play a role, in particular the genetic susceptibility. Impressive is the case of Cappadocians families exposed to erionite and affected by an "epidemic" of MPM with about half of the inhabitants dying for the disease...
January 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29462129/family-history-of-cancer-and-the-risk-of-childhood-solid-tumours-a-norwegian-nationwide-register-based-cohort-study
#6
Ruby Del Risco Kollerud, Karl Gerhard Blaasaas, Bjørgulf Claussen, Per Nafstad, Lisa A Cannon-Albright, Ellen Ruud, Finn Wesenberg, Øyvind Næss
BACKGROUND: It is not clear if family history of cancer increases risk of cancer in children. METHODS: We followed-up a total of 2 610 937 children born between 1960 and 2001 for cancer risk, and their parents and siblings. In this period, 2477 primary childhood solid tumours (except lymphoma) were diagnosed. The data from the Norwegian Family and Life Course Study and from the Norwegian Cancer Register were used. Classification of hereditary cancer syndromes was based on tumour histology, pedigrees and Chompret's criteria...
February 20, 2018: British Journal of Cancer
https://www.readbyqxmd.com/read/29456621/men-seeking-counselling-in-a-breast-cancer-risk-evaluation-clinic
#7
Ana Catarina Freitas, Ana Opinião, Sofia Fragoso, Hugo Nunes, Madalena Santos, Ana Clara, Sandra Bento, Ana Luis, Jorge Silva, Cecília Moura, Bruno Filipe, Patrícia Machado, Sidónia Santos, Saudade André, Paula Rodrigues, Joana Parreira, Fátima Vaz
Background: Hereditary breast and ovary cancer syndrome affects both genders but little is known about the uptake of genetic services by men. The objective of this study is to characterise the male population counselled through a multidisciplinary breast/ovarian program. Methods: Descriptive analysis of male patients counselled from January 2000 to December 2015. Data in this analysis include new cancer diagnoses during prospective follow up. Results: From 4,320 families registered, 362 male patients were identified: 236 (65...
2018: Ecancermedicalscience
https://www.readbyqxmd.com/read/29198644/the-diagnostic-usefulness-of-the-negative-electroretinogram
#8
C Fuente García, J J González-López, F J Muñoz-Negrete, G Rebolleda
The definition of the negative response of the full field electroretinogram is the presence of a b-wave with less amplitude than the a-wave (b/a ratio<1) in the combined response of cones and rods. The presence of this pattern reflects an alteration in the bipolar cells, the Müller cells, or in the transmission of the stimulus from the photoreceptors to the bipolar cells, with preserved photoreceptor function. This finding can be seen bilaterally and symmetrically in different hereditary conditions, such as congenital stationary night blindness, juvenile X-linked retinoschisis, and Duchenne and Becker muscular dystrophies...
March 2018: Archivos de la Sociedad Española de Oftalmología
https://www.readbyqxmd.com/read/29166932/bap1-case-report-and-insight-into-a-novel-tumor-suppressor
#9
Kanad Ghosh, Badri Modi, William D James, Brian C Capell
BACKGROUND: BRCA1-Associated-Protein 1 (BAP1) is a dynamic tumor suppressor which, when mutated, has been associated with an increased risk of uveal melanoma, cutaneous melanoma, mesothelioma, and several other cancers. Germline BAP1 mutations have been extensively studied, where they have been found to cause hereditary cancer susceptibility. However, their sporadic counterparts, tumors that display a loss of BAP1 expression due to somatically arising mutations in the BAP1 gene, remain a poorly described entity...
November 22, 2017: BMC Dermatology
https://www.readbyqxmd.com/read/29066916/mutation-analysis-and-copy-number-alterations-of-kif23-in-non-small-cell-lung-cancer-exhibiting-kif23-over-expression
#10
Ann-Louise Vikberg, Tõnu Vooder, Kaie Lokk, Tarmo Annilo, Irina Golovleva
KIF23 was recently suggested to be a potential molecular target for the treatment of lung cancer. This proposal is based on elevated expression of KIF23 in several tumors affecting breast, lung, brain, and liver, and also on the presence of KIF23 mutations in melanoma and colorectal cancer. Recently, we identified a mutation in the KIF23 gene causing a rare hereditary form of dyserythropoietic anemia (CDA III) with predisposition to blood cancer. We suggested that KIF23 overexpression in tumors might be due to the presence of activating somatic mutations, and therefore, mutation screening of the KIF23 in 15 non-small-cell lung cancer (NSCLC) cases with elevated expression level of KIF23 was undertaken...
2017: OncoTargets and Therapy
https://www.readbyqxmd.com/read/29061454/malignant-peripheral-nerve-sheath-tumor-in-a-patient-with-bap1-tumor-predisposition-syndrome
#11
Megan C Kaszuba, Jose S Pulido, Andrew L Folpe, Pavel N Pichurin, McKinsey L Goodenberger, Robert J Spinner
BACKGROUND: Germline pathogenic variants in BRCA1-associated protein-1 (BAP1), a nuclear ubiquitin carboxy-terminal hydrolase with evidence suggestive of independent tumor suppressor function, predispose affected families to uveal melanoma, cutaneous melanoma, renal cell carcinoma, malignant mesothelioma, and possibly a range of other tumors and malignancies as part of the BAP1 tumor predisposition syndrome, a recently recognized hereditary cancer syndrome. CASE DESCRIPTION: A 50-year-old woman presented with a malignant peripheral nerve sheath tumor of the left fifth metatarsal head...
January 2018: World Neurosurgery
https://www.readbyqxmd.com/read/28890814/outcomes-and-complications-of-radiation-therapy-in-patients-with-familial-adenomatous-polyposis
#12
Meng Gan, Dustin Boothe, Deborah W Neklason, N Jewel Samadder, Jonathan Frandsen, Megan B Keener, Shane Lloyd
BACKGROUND: The outcomes, complications, and rates of secondary malignancies from radiation therapy (RT) are not known for patients with familial adenomatous polyposis (FAP). METHODS: We queried the Hereditary Gastrointestinal Cancer Registry (HGCR) for patients with FAP who received RT. Outcomes assessed included acute and late treatment toxicity and secondary malignancies. RESULTS: We identified 15 patients undergoing 18 treatment courses...
August 2017: Journal of Gastrointestinal Oncology
https://www.readbyqxmd.com/read/28879469/pancreatic-cancer-screening
#13
REVIEW
Koushik K Das, Dayna Early
PURPOSE OF REVIEW: This review describes the rationale for pancreatic cancer screening, outlines groups that are at elevated risk for pancreatic cancer, and summarizes the relative risk in each setting. We also review the methods available for performing pancreatic cancer screening and the recommended screening intervals. RECENT FINDINGS: Several genetic mutations have been identified that increase the risk for pancreatic cancer. Most are rare, however, and at-risk individuals are most often those with a strong family history of pancreatic cancer (with multiple family members affected) but no identifiable genetic mutation...
December 2017: Current Treatment Options in Gastroenterology
https://www.readbyqxmd.com/read/28781790/somatic-brca1-associated-protein-1-bap1-loss-is-an-early-and-rare-event-in-esophageal-adenocarcinoma
#14
Heike Loeser, Dirk Waldschmidt, Fabian Kuetting, Simon Schallenberg, Thomas Zander, Elfriede Bollschweiler, Arnulf Hoelscher, Katharina Weckermann, Patrick Plum, Hakan Alakus, Reinhard Buettner, Alexander Quaas
Esophageal cancer is the eighth most common malignant tumor worldwide, and the number of incidences of esophageal adenocarcinoma is increasing in the Western world. Despite improvements in perioperative treatment, the overall survival rate of patients with esophageal adenocarcinoma remains poor. Breast cancer type 1 susceptibility protein (BRCA1)-associated protein (BAP1) is located on chromosome 3p21, and it is an enzyme with ubiquitin carboxyl hydrolase activity that regulates cell growth. It interacts with BRCA1, and the nuclear localization of BAP1 is required for its tumor suppressor function...
August 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28731148/molecular-genetics-and-targeted-therapy-of-wnt-related-human-diseases-review
#15
Masuko Katoh, Masaru Katoh
Canonical WNT signaling through Frizzled and LRP5/6 receptors is transduced to the WNT/β-catenin and WNT/stabilization of proteins (STOP) signaling cascades to regulate cell fate and proliferation, whereas non-canonical WNT signaling through Frizzled or ROR receptors is transduced to the WNT/planar cell polarity (PCP), WNT/G protein-coupled receptor (GPCR) and WNT/receptor tyrosine kinase (RTK) signaling cascades to regulate cytoskeletal dynamics and directional cell movement. WNT/β-catenin signaling cascade crosstalks with RTK/SRK and GPCR-cAMP-PKA signaling cascades to regulate β-catenin phosphorylation and β-catenin-dependent transcription...
September 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/28706762/metastatic-breast-cancer-with-brca-mutation-discovered-by-next-generation-sequencing-responding-to-olaparib
#16
Wajeeha Rizvi, Phu Truong, Quoc Truong
Breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2) mutations are associated with hereditary breast and ovarian cancer syndromes (HBOC). However, certain individuals with breast cancer do not meet high-risk factors for hereditary breast cancer screening based on age, family history, and biology of malignancy. We present a patient with relapsed breast cancer who developed progressive disease with significant tumor burden causing a recurrent pleural effusion. Next-generation sequencing (NGS) done on a tumor biopsy was positive for the BRCA2 mutation...
June 11, 2017: Curēus
https://www.readbyqxmd.com/read/28701784/familial-associations-of-colorectal-cancer-with-other-cancers
#17
Hongyao Yu, Akseli Hemminki, Kristina Sundquist, Kari Hemminki
Colorectal cancer (CRC) has a strong familial component which extends to discordant cancers (ie non-CRC tumors). This is best seen in cancer syndromes such as hereditary non-polyposis colorectal cancer (HNPCC) which predisposes to several tumor types. Population-based family studies have also found discordant associations for CRC but they have included cancers which manifest in HNPCC, and there is no convincing evidence of discordant associations beyond the known syndromes. We address familial associations of non-CRC tumors with CRC using the resources of the Swedish Family-Cancer Database and applying a powerful approach of assessing familial relative risks in families of increasing numbers of patients with discordant cancers...
July 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28692055/cellular-prion-protein-prp-c-in-the-development-of-merlin-deficient-tumours
#18
L Provenzano, Y Ryan, D A Hilton, J Lyons-Rimmer, F Dave, E A Maze, C L Adams, R Rigby-Jones, S Ammoun, C O Hanemann
Loss of function mutations in the neurofibromatosis Type 2 (NF2) gene, coding for a tumour suppressor, Merlin, cause multiple tumours of the nervous system such as schwannomas, meningiomas and ependymomas. These tumours may occur sporadically or as part of the hereditary condition neurofibromatosis Type 2 (NF2). Current treatment is confined to (radio) surgery and no targeted drug therapies exist. NF2 mutations and/or Merlin inactivation are also seen in other cancers including some mesothelioma, breast cancer, colorectal carcinoma, melanoma and glioblastoma...
November 2, 2017: Oncogene
https://www.readbyqxmd.com/read/28620008/pten-dicer1-fh-and-their-associated-tumor-susceptibility-syndromes-clinical-features-genetics-and-surveillance-recommendations-in-childhood
#19
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
#20
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...
November 15, 2017: Gut and Liver
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