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: 4681C>A; His1561Asn; rs2219594
Interpreting Sequence Variation in PDAC-Predisposing Genes Using a Multi-Tier Annotation Approach Performed at the Gene, Patient, and Cohort Level.
Frontiers In Oncology
Zimmermann, Michael T MT; Mathison, Angela J AJ; Stodola, Tim T; Evans, Douglas B DB; Abrudan, Jenica L JL; Demos, Wendy W; Tschannen, Michael M; Aldakkak, Mohammed M; Geurts, Jennifer J; Lomberk, Gwen G; Tsai, Susan S; Urrutia, Raul R
Publication Date: 2021
Variant appearance in text: BRCA2: 4681C>A; His1561Asn
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: BRCA2: 4681C>A; H1561N; rs2219594
REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04
Variant appearance in text: BRCA2: 4681C>A; H1561N
A Bayesian framework for efficient and accurate variant prediction.
Plos One
Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH
Publication Date: 2018
Variant appearance in text: BRCA2: 4681C>A; H1561N
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
Somatic mutations in early onset luminal breast cancer.
Oncotarget
Encinas, Giselly G; Sabelnykova, Veronica Y VY; de Lyra, Eduardo Carneiro EC; Hirata Katayama, Maria Lucia ML; Maistro, Simone S; de Vasconcellos Valle, Pedro Wilson Mompean PWM; de Lima Pereira, Gláucia Fernanda GF; Rodrigues, Lívia Munhoz LM; de Menezes Pacheco Serio, Pedro Adolpho PA; de Gouvêa, Ana Carolina Ribeiro Chaves ACRC; Geyer, Felipe Correa FC; Basso, Ricardo Alves RA; Pasini, Fátima Solange FS; Del Pilar Esteves Diz, Maria M; Brentani, Maria Mitzi MM; Guedes Sampaio Góes, João Carlos JC; Chammas, Roger R; Boutros, Paul C PC; Koike Folgueira, Maria Aparecida Azevedo MAA
Publication Date: 2018-04-27
Variant appearance in text: BRCA2: 4681C>A; His1561Asn; rs2219594
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: 4681C>A; His1561Asn
Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B
Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.
Biomed Research International
Ruiz, Anna A; Llort, Gemma G; Yagüe, Carmen C; Baena, Neus N; Viñas, Marina M; Torra, Montse M; Brunet, Anna A; Seguí, Miquel A MA; Saigí, Eugeni E; Guitart, Miriam M
Publication Date: 2014
Variant appearance in text: BRCA2: 4681C>A; His1561Asn
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
Bmc Medical Genetics
Silva, Felipe C FC; Lisboa, Bianca Cg BC; Figueiredo, Marcia Cp MC; Torrezan, Giovana T GT; Santos, Erika Mm EM; Krepischi, Ana C AC; Rossi, Benedito M BM; Achatz, Maria I MI; Carraro, Dirce M DM
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: BRCA2: H1561N; rs2219594
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.
Cancer
Pennington, Kathryn P KP; Walsh, Tom T; Lee, Ming M; Pennil, Christopher C; Novetsky, Akiva P AP; Agnew, Kathy J KJ; Thornton, Anne A; Garcia, Rochelle R; Mutch, David D; King, Mary-Claire MC; Goodfellow, Paul P; Swisher, Elizabeth M EM
Full-exon pyrosequencing screening of BRCA germline mutations in Mexican women with inherited breast and ovarian cancer.
Plos One
Vaca-Paniagua, Felipe F; Alvarez-Gomez, Rosa María RM; Fragoso-Ontiveros, Verónica V; Vidal-Millan, Silvia S; Herrera, Luis Alonso LA; Cantú, David D; Bargallo-Rocha, Enrique E; Mohar, Alejandro A; López-Camarillo, César C; Pérez-Plasencia, Carlos C
Evaluation of unclassified variants in the breast cancer susceptibility genes BRCA1 and BRCA2 using five methods: results from a population-based study of young breast cancer patients.
Breast Cancer Research : Bcr
Lee, Eunjung E; McKean-Cowdin, Roberta R; Ma, Huiyan H; Chen, Zhengjia Z; Van Den Berg, David D; Henderson, Brian E BE; Bernstein, Leslie L; Ursin, Giske G