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: 4419del; Asn1473fs; rs1064794337
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: BRCA2: 4419del; Asn1473fs
Spectrum of Germline BRCA1 and BRCA2 Variants Identified in 2351 Ovarian and Breast Cancer Patients Referring to a Reference Cancer Hospital of Rome.
Cancers
Santonocito, Concetta C; Rizza, Roberta R; Paris, Ida I; Marchis, Laura De L; Paolillo, Carmela C; Tiberi, Giordana G; Scambia, Giovanni G; Capoluongo, Ettore E
Publication Date: 2020-05-19
Variant appearance in text: BRCA2: 4419delC; rs1064794337
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Pediatric Research
Ziats, Mark N MN; Ahmad, Ayesha A; Bernat, John A JA; Fisher, Rachel R; Glassford, Megan M; Hannibal, Mark C MC; Jacher, Joseph E JE; Weiser, Natasha N; Keegan, Catherine E CE; Lee, Kristen N KN; Marzulla, Tessa B TB; O'Connor, Bridget C BC; Quinonez, Shane C SC; Seemann, Lauren L; Turner, Lauren L; Bielas, Stephanie S; Harris, Nicholas L NL; Ogle, Jacob D JD; Innis, Jeffrey W JW; Martin, Donna M DM
Publication Date: 2020-03
Variant appearance in text: BRCA2: 4419delC; N1473KfsX6
Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants.
Jama Network Open
Manickam, Kandamurugu K; Buchanan, Adam H AH; Schwartz, Marci L B MLB; Hallquist, Miranda L G MLG; Williams, Janet L JL; Rahm, Alanna Kulchak AK; Rocha, Heather H; Savatt, Juliann M JM; Evans, Alyson E AE; Butry, Loren M LM; Lazzeri, Amanda L AL; Lindbuchler, D'Andra M DM; Flansburg, Carroll N CN; Leeming, Rosemary R; Vogel, Victor G VG; Lebo, Matthew S MS; Mason-Suares, Heather M HM; Hoskinson, Derick C DC; Abul-Husn, Noura S NS; Dewey, Frederick E FE; Overton, John D JD; Reid, Jeffrey G JG; Baras, Aris A; Willard, Huntington F HF; McCormick, Cara Z CZ; Krishnamurthy, Sarath B SB; Hartzel, Dustin N DN; Kost, Korey A KA; Lavage, Daniel R DR; Sturm, Amy C AC; Frisbie, Lauren R LR; Person, T Nate TN; Metpally, Raghu P RP; Giovanni, Monica A MA; Lowry, Lacy E LE; Leader, Joseph B JB; Ritchie, Marylyn D MD; Carey, David J DJ; Justice, Anne E AE; Kirchner, H Lester HL; Faucett, W Andrew WA; Williams, Marc S MS; Ledbetter, David H DH; Murray, Michael F MF
Publication Date: 2018-09-07
Variant appearance in text: BRCA2: 4419delC; Asn1473Lysfs*6
BRCA1 and BRCA2 mutations and clinical interpretation in 398 ovarian cancer patients: comparison with breast cancer variants in a similar population.
Human Genomics
Cardoso, Florencia C FC; Goncalves, Susana S; Mele, Pablo G PG; Liria, Natalia C NC; Sganga, Leonardo L; Diaz Perez, Ignacio I; Podesta, Ernesto J EJ; Solano, Angela R AR
Publication Date: 2018-08-13
Variant appearance in text: BRCA2: 4419delC; Asn1473Lysfs*6