MC1R 'r' allele does not increase melanoma risk in MITF E318K carriers.
The British Journal Of Dermatology
Wallingford, Courtney K CK; Demeshko, Anastassia A; Krishnankutty Krishnakripa, Asha A; Smit, Darren J DJ; Duffy, David L DL; Betz-Stablein, Brigid B; Pflugfelder, Annette A; Jagirdar, Kasturee K; Holland, Elizabeth E; Mann, Graham J GJ; Primiero, Clare A CA; Yanes, Tatiane T; Malvehy, Josep J; Badenas, Cèlia C; Carrera, Cristina C; Aguilera, Paula P; Olsen, Catherine M CM; Ward, Sarah V SV; Haass, Nikolas K NK; Sturm, Richard A RA; Puig, Susanna S; Whiteman, David C DC; Law, Matthew H MH; Cust, Anne E AE; Potrony, Miriam M; Soyer, H Peter HP; McInerney-Leo, Aideen M AM
Publication Date: 2023-03-05
Variant appearance in text: MC1R: R160W; rs1805008
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Cell
Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Interest and Utility of MC1R Testing for Melanoma Risk in Dermatology Patients with a History of Nonmelanoma Skin Cancer.
Journal Of Skin Cancer
Hay, Jennifer L JL; Lee, Erica H EH; Christian, Stephanie N SN; Schofield, Elizabeth E; Hamilton, Jada G JG; Yang, Ciyu C; Hedayati, Bobak B; Sadeghi, Keimya K; Robson, Mark E ME; Halpern, Allan A; Zhang, Liying L; Orlow, Irene I
A randomized clinical trial of precision prevention materials incorporating MC1R genetic risk to improve skin cancer prevention activities among Hispanics.
Cancer Research Communications
Lacson, John Charles A JCA; Doyle, Scarlet H SH; Del Rio, Jocelyn J; Forgas, Stephanie M SM; Carvajal, Rodrigo R; Gonzalez-Calderon, Guillermo G; Feliciano, Adriana Ramírez AR; Kim, Youngchul Y; Roetzheim, Richard G RG; Sutton, Steven K SK; Vadaparampil, Susan T ST; Soto-Torres, Brenda B; Kanetsky, Peter A PA
Publication Date: 2022-01
Variant appearance in text: MC1R: R160W; rs1805008
Integrated DNA and RNA Sequencing Reveals Drivers of Endocrine Resistance in Estrogen Receptor-Positive Breast Cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xia, Youli Y; He, Xiaping X; Renshaw, Lorna L; Martinez-Perez, Carlos C; Kay, Charlene C; Gray, Mark M; Meehan, James J; Parker, Joel S JS; Perou, Charles M CM; Carey, Lisa A LA; Dixon, J Michael JM; Turnbull, Arran A
Publication Date: 2022-08-15
Variant appearance in text: MC1R: R160W; rs1805008
Defining novel causal SNPs and linked phenotypes at melanoma-associated loci.
Human Molecular Genetics
Castaneda-Garcia, Carolina C; Iyer, Vivek V; Nsengimana, Jérémie J; Trower, Adam A; Droop, Alastair A; Brown, Kevin M KM; Choi, Jiyeon J; Zhang, Tongwu T; Harland, Mark M; Newton-Bishop, Julia A JA; Bishop, D Timothy DT; Adams, David J DJ; Iles, Mark M MM; Robles-Espinoza, Carla Daniela CD
Publication Date: 2022-08-25
Variant appearance in text: MC1R: R160W; rs1805008
Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.
Plos One
Rauf, Sobiah S; Austin, Jeremy J JJ; Higgins, Denice D; Khan, Muhammad Ramzan MR
PARP1 Inhibitor and Trabectedin Combination Does Not Increase Tumor Mutational Burden in Advanced Sarcomas-A Preclinical and Translational Study.
Cancers
Pignochino, Ymera Y; Crisafulli, Giovanni G; Giordano, Giorgia G; Merlini, Alessandra A; Berrino, Enrico E; Centomo, Maria Laura ML; Chiabotto, Giulia G; Brusco, Silvia S; Basiricò, Marco M; Maldi, Elena E; Pisacane, Alberto A; Leuci, Valeria V; Sangiolo, Dario D; D'Ambrosio, Lorenzo L; Aglietta, Massimo M; Kasper, Bernd B; Bardelli, Alberto A; Grignani, Giovanni G
PARP1 Inhibitor and Trabectedin Combination Does Not Increase Tumor Mutational Burden in Advanced Sarcomas-A Preclinical and Translational Study.
Cancers
Pignochino, Ymera Y; Crisafulli, Giovanni G; Giordano, Giorgia G; Merlini, Alessandra A; Berrino, Enrico E; Centomo, Maria Laura ML; Chiabotto, Giulia G; Brusco, Silvia S; Basiricò, Marco M; Maldi, Elena E; Pisacane, Alberto A; Leuci, Valeria V; Sangiolo, Dario D; D'Ambrosio, Lorenzo L; Aglietta, Massimo M; Kasper, Bernd B; Bardelli, Alberto A; Grignani, Giovanni G
A large Canadian cohort provides insights into the genetic architecture of human hair colour.
Communications Biology
Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ
Publication Date: 2021-11-04
Variant appearance in text: MC1R: Arg160Trp; rs1805008
Contribution of rare variant associations to neurodegenerative disease presentation.
Npj Genomic Medicine
Dilliott, Allison A AA; Abdelhady, Abdalla A; Sunderland, Kelly M KM; Farhan, Sali M K SMK; Abrahao, Agessandro A; Binns, Malcolm A MA; Black, Sandra E SE; Borrie, Michael M; Casaubon, Leanne K LK; Dowlatshahi, Dar D; Finger, Elizabeth E; Fischer, Corinne E CE; Frank, Andrew A; Freedman, Morris M; Grimes, David D; Hassan, Ayman A; Jog, Mandar M; Kumar, Sanjeev S; Kwan, Donna D; Lang, Anthony E AE; Mandzia, Jennifer J; Masellis, Mario M; McIntyre, Adam D AD; Pasternak, Stephen H SH; Pollock, Bruce G BG; Rajji, Tarek K TK; Rogaeva, Ekaterina E; Sahlas, Demetrios J DJ; Saposnik, Gustavo G; Sato, Christine C; Seitz, Dallas D; Shoesmith, Christen C; Steeves, Thomas D L TDL; Swartz, Richard H RH; Tan, Brian B; Tang-Wai, David F DF; Tartaglia, Maria C MC; Turnbull, John J; Zinman, Lorne L; , ; Hegele, Robert A RA
Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.
Genes
Vergani, Elisabetta E; Frigerio, Simona S; Dugo, Matteo M; Devecchi, Andrea A; Feltrin, Erika E; De Cecco, Loris L; Vallacchi, Viviana V; Cossa, Mara M; Di Guardo, Lorenza L; Manoukian, Siranoush S; Peissel, Bernard B; Ferrari, Andrea A; Gallino, Gianfrancesco G; Maurichi, Andrea A; Rivoltini, Licia L; Sensi, Marialuisa M; Rodolfo, Monica M
Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.
Journal Of Clinical Medicine
Zocchi, Lamberto L; Lontano, Alberto A; Merli, Martina M; Dika, Emi E; Nagore, Eduardo E; Quaglino, Pietro P; Puig, Susana S; Ribero, Simone S
Behavioral and Psychological Outcomes Associated with Skin Cancer Genetic Testing in Albuquerque Primary Care.
Cancers
Hay, Jennifer L JL; Kaphingst, Kimberly A KA; Buller, David D; Schofield, Elizabeth E; Meyer White, Kirsten K; Sussman, Andrew A; Guest, Dolores D; Dailey, Yvonne T YT; Robers, Erika E; Schwartz, Matthew R MR; Li, Yuelin Y; Hunley, Keith K; Berwick, Marianne M
Publication Date: 2021-08-12
Variant appearance in text: MC1R: R160W; rs1805008
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.
Cancers
Hubert, Jean-Noël JN; Suybeng, Voreak V; Vallée, Maxime M; Delhomme, Tiffany M TM; Maubec, Eve E; Boland, Anne A; Bacq, Delphine D; Deleuze, Jean-François JF; Jouenne, Fanélie F; Brennan, Paul P; McKay, James D JD; Avril, Marie-Françoise MF; Bressac-de Paillerets, Brigitte B; Chanudet, Estelle E