Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.
Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.
Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09
Variant appearance in text: BRCA2: 6988A>G; Ile2330Val; rs876661032
Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.
Breast Cancer Research And Treatment
Ren, Megan M; Orozco, Anali A; Shao, Kang K; Albanez, Anaseidy A; Ortiz, Jeremy J; Cao, Boyang B; Wang, Lusheng L; Barreda, Lilian L; Alvarez, Christian S CS; Garland, Lisa L; Wu, Dongjing D; Chung, Charles C CC; Wang, Jiahui J; Frone, Megan M; Ralon, Sergio S; Argueta, Victor V; Orozco, Roberto R; Gharzouzi, Eduardo E; Dean, Michael M
Publication Date: 2021-09
Variant appearance in text: BRCA2: 6988A>G; I2330V; rs876661032
Inflammatory Breast Cancer: Clinical Implications of Genomic Alterations and Mutational Profiling.
Cancers
Faldoni, Flávia L C FLC; Villacis, Rolando A R RAR; Canto, Luisa M LM; Fonseca-Alves, Carlos E CE; Cury, Sarah S SS; Larsen, Simon J SJ; Aagaard, Mads M MM; Souza, Cristiano P CP; Scapulatempo-Neto, Cristovam C; Osório, Cynthia A B T CABT; Baumbach, Jan J; Marchi, Fabio A FA; Rogatto, Silvia R SR
Publication Date: 2020-09-30
Variant appearance in text: BRCA2: 6988A>G; Ile2330Val
Classification of variants of uncertain significance in BRCA1 and BRCA2 using personal and family history of cancer from individuals in a large hereditary cancer multigene panel testing cohort.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Li, Hongyan H; LaDuca, Holly H; Pesaran, Tina T; Chao, Elizabeth C EC; Dolinsky, Jill S JS; Parsons, Michael M; Spurdle, Amanda B AB; Polley, Eric C EC; Shimelis, Hermela H; Hart, Steven N SN; Hu, Chunling C; Couch, Fergus J FJ; Goldgar, David E DE
Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Hart, Steven N SN; Hoskin, Tanya T; Shimelis, Hermela H; Moore, Raymond M RM; Feng, Bingjian B; Thomas, Abigail A; Lindor, Noralane M NM; Polley, Eric C EC; Goldgar, David E DE; Iversen, Edwin E; Monteiro, Alvaro N A ANA; Suman, Vera J VJ; Couch, Fergus J FJ
BRCA1 and BRCA2 mutational profile and prevalence in hereditary breast and ovarian cancer (HBOC) probands from Southern Brazil: Are international testing criteria appropriate for this specific population?
Plos One
Alemar, Bárbara B; Gregório, Cleandra C; Herzog, Josef J; Matzenbacher Bittar, Camila C; Brinckmann Oliveira Netto, Cristina C; Artigalas, Osvaldo O; Schwartz, Ida Vanessa D IVD; Coffa, Jordy J; Alves Camey, Suzi S; Weitzel, Jeffrey J; Ashton-Prolla, Patricia P
Publication Date: 2017
Variant appearance in text: BRCA2: 6988A>G; Ile2330Val; rs876661032
Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.
Human Genomics
Buzolin, Ana Lígia AL; Moreira, Caroline Mônaco CM; Sacramento, Patricia Rossi PR; Oku, Andre Yuji AY; Fornari, Alexandre Ricardo Dos Santos ARDS; Antonio, David Santos Marco DSM; Quaio, Caio Robledo D Angioli Costa CRDAC; Baratela, Wagner Rosa WR; Mitne-Neto, Miguel M
Publication Date: 2017-06-26
Variant appearance in text: BRCA2: 6988A>G; Ile2330Val
Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.
Oncotarget
Fernandes, Gabriela C GC; Michelli, Rodrigo A D RA; Galvão, Henrique C R HC; Paula, André E AE; Pereira, Rui R; Andrade, Carlos E CE; Felicio, Paula S PS; Souza, Cristiano P CP; Mendes, Deise R P DR; Volc, Sahlua S; Berardinelli, Gustavo N GN; Grasel, Rebeca S RS; Sabato, Cristina S CS; Viana, Danilo V DV; Mauad, Edmundo C EC; Scapulatempo-Neto, Cristovam C; Arun, Banu B; Reis, Rui M RM; Palmero, Edenir I EI
Publication Date: 2016-12-06
Variant appearance in text: BRCA2: 6988A>G; Ile2330Val