Molecular profiling of a real-world breast cancer cohort with genetically inferred ancestries reveals actionable tumor biology differences between European ancestry and African ancestry patient populations.
Breast Cancer Research : Bcr
Miyashita, Minoru M; Bell, Joshua S K JSK; Wenric, Stephane S; Karaesmen, Ezgi E; Rhead, Brooke B; Kase, Matthew M; Kaneva, Kristiyana K; De La Vega, Francisco M FM; Zheng, Yonglan Y; Yoshimatsu, Toshio F TF; Khramtsova, Galina G; Liu, Fang F; Zhao, Fangyuan F; Howard, Frederick M FM; Nanda, Rita R; Beaubier, Nike N; White, Kevin P KP; Huo, Dezheng D; Olopade, Olufunmilayo I OI
Publication Date: 2023-05-25
Variant appearance in text: BRCA2: 8420C>T; S2807L
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: 8420C>T; Ser2807Leu; rs55763607
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Hu, Chunling C; Susswein, Lisa R LR; Roberts, Maegan E ME; Yang, Hana H; Marshall, Megan L ML; Hiraki, Susan S; Berkofsky-Fessler, Windy W; Gupta, Sounak S; Shen, Wei W; Dunn, Carolyn A CA; Huang, Huaizhi H; Na, Jie J; Domchek, Susan M SM; Yadav, Siddhartha S; Monteiro, Alvaro N A ANA; Polley, Eric C EC; Hart, Steven N SN; Hruska, Kathleen S KS; Couch, Fergus J FJ
Publication Date: 2022-09-01
Variant appearance in text: BRCA2: 8420C>T; Ser2807Leu
An integrative model for the comprehensive classification of BRCA1 and BRCA2 variants of uncertain clinical significance.
Npj Genomic Medicine
Iversen, Edwin S ES; Lipton, Gary G; Hart, Steven N SN; Lee, Kun Y KY; Hu, Chunling C; Polley, Eric C EC; Pesaran, Tina T; Yussuf, Amal A; LaDuca, Holly H; Chao, Elizabeth E; Karam, Rachid R; Goldgar, David E DE; Couch, Fergus J FJ; Monteiro, Alvaro N A ANA
Strong functional data for pathogenicity or neutrality classify BRCA2 DNA-binding-domain variants of uncertain significance.
American Journal Of Human Genetics
Richardson, Marcy E ME; Hu, Chunling C; Lee, Kun Y KY; LaDuca, Holly H; Fulk, Kelly K; Durda, Kate M KM; Deckman, Ashley M AM; Goldgar, David E DE; Monteiro, Alvaro N A ANA; Gnanaolivu, Rohan R; Hart, Steven N SN; Polley, Eric C EC; Chao, Elizabeth E; Pesaran, Tina T; Couch, Fergus J FJ
Integrated molecular drivers coordinate biological and clinical states in melanoma.
Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12
Variant appearance in text: BRCA2: 8420C>T; S2807L
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
A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.
Scientific Reports
Ticha, Ivana I; Hojny, Jan J; Michalkova, Romana R; Kodet, Ondrej O; Krkavcova, Eva E; Hajkova, Nikola N; Nemejcova, Kristyna K; Bartu, Michaela M; Jaksa, Radek R; Dura, Miroslav M; Kanwal, Madiha M; Martinikova, Andra S AS; Macurek, Libor L; Zemankova, Petra P; Kleibl, Zdenek Z; Dundr, Pavel P
Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.
Human Genomics
Fernández-Lopez, J C JC; Romero-Córdoba, S S; Rebollar-Vega, R R; Alfaro-Ruiz, L A LA; Jiménez-Morales, S S; Beltrán-Anaya, F F; Arellano-Llamas, R R; Cedro-Tanda, A A; Rios-Romero, M M; Ramirez-Florencio, M M; Bautista-Piña, V V; Dominguez-Reyes, C C; Villegas-Carlos, F F; Tenorio-Torres, A A; Hidalgo-Miranda, A A
Publication Date: 2019-01-10
Variant appearance in text: BRCA2: 8420C>T; Ser2807Leu; rs55763607
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
Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches.
American Journal Of Human Genetics
Guidugli, Lucia L; Shimelis, Hermela H; Masica, David L DL; Pankratz, Vernon S VS; Lipton, Gary B GB; Singh, Namit N; Hu, Chunling C; Monteiro, Alvaro N A ANA; Lindor, Noralane M NM; Goldgar, David E DE; Karchin, Rachel R; Iversen, Edwin S ES; Couch, Fergus J FJ
Publication Date: 2018-02-01
Variant appearance in text: BRCA2: 8420C>T; Ser2807Leu
Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.
Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Functional assays for analysis of variants of uncertain significance in BRCA2.
Human Mutation
Guidugli, Lucia L; Carreira, Aura A; Caputo, Sandrine M SM; Ehlen, Asa A; Galli, Alvaro A; Monteiro, Alvaro N A AN; Neuhausen, Susan L SL; Hansen, Thomas V O TV; Couch, Fergus J FJ; Vreeswijk, Maaike P G MP; ,
A classification model for BRCA2 DNA binding domain missense variants based on homology-directed repair activity.
Cancer Research
Guidugli, Lucia L; Pankratz, Vernon S VS; Singh, Namit N; Thompson, James J; Erding, Catherine A CA; Engel, Christoph C; Schmutzler, Rita R; Domchek, Susan S; Nathanson, Katherine K; Radice, Paolo P; Singer, Christian C; Tonin, Patricia N PN; Lindor, Noralane M NM; Goldgar, David E DE; Couch, Fergus J FJ