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: 4854T>A; Asp1618Glu; rs80358708
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
Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.
Plos One
Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY
Publication Date: 2019
Variant appearance in text: BRCA2: D1618E; rs80358708
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
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
Journal Of Human Genetics
Arai, Masami M; Yokoyama, Shiro S; Watanabe, Chie C; Yoshida, Reiko R; Kita, Mizuho M; Okawa, Megumi M; Sakurai, Akihiro A; Sekine, Masayuki M; Yotsumoto, Junko J; Nomura, Hiroyuki H; Akama, Yoshinori Y; Inuzuka, Mayuko M; Nomizu, Tadashi T; Enomoto, Takayuki T; Nakamura, Seigo S
Publication Date: 2018-04
Variant appearance in text: BRCA2: 4854T>A; Asp1618Glu
Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan.
Journal Of Human Genetics
Arai, Masami M; Yokoyama, Shiro S; Watanabe, Chie C; Yoshida, Reiko R; Kita, Mizuho M; Okawa, Megumi M; Sakurai, Akihiro A; Sekine, Masayuki M; Yotsumoto, Junko J; Nomura, Hiroyuki H; Akama, Yoshinori Y; Inuzuka, Mayuko M; Nomizu, Tadashi T; Enomoto, Takayuki T; Nakamura, Seigo S
Publication Date: 2018-04
Variant appearance in text: BRCA2: 4854T>A; Asp1618Glu
Findings of a 1303 Korean whole-exome sequencing study.
Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14
Variant appearance in text: BRCA2: D1618E; rs80358708
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.
Cancer Research And Treatment
Park, Ji Soo JS; Nam, Eun Ji EJ; Park, Hyung Seok HS; Han, Jung Woo JW; Lee, Jung-Yun JY; Kim, Jieun J; Kim, Tae Il TI; Lee, Seung-Tae ST
Comprehensive screening of target molecules by next-generation sequencing in patients with malignant solid tumors: guiding entry into phase I clinical trials.
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28
Variant appearance in text: BRCA2: 4854T>A; D1618E