BRCA1 c.3113A>C ;(p.E1038A)

Variant ID: 17-41244435-T-G

NM_007294.3(BRCA1):c.3113A>C;(p.E1038A)

This variant was identified in 59 publications

View GRCh38 version.




Publications:


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: rs16941
PubMed Link: 36922933
Variant Present in the following documents:
  • Main text
  • crc-22-0136-s01.xlsx, sheet 1
  • crc-22-0136.pdf
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs16941
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 2
View BVdb publication page



Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

International Journal Of Cancer
Qin, Zixin Z; Li, Jiaheng J; Tam, Benjamin B; Sinha, Siddharth S; Zhao, Bojin B; Bhaskaran, Shanmuga Priya SP; Huang, Teng T; Wu, Xiaobing X; Chian, Jia Sheng JS; Guo, Maoni M; Kou, Si Hoi SH; Lei, Huijun H; Zhang, Li L; Wang, Xiaoyu X; Lagniton, Philip Naderev P PNP; Xiao, Fengxia F; Jiang, Xinyang X; Wang, San Ming SM
Publication Date: 2022-11-17

Variant appearance in text: BRCA1: 3113A>C; Glu1038Ala
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s006.xlsx, sheet 2
View BVdb publication page



Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Scientific Reports
Aljarf, Raghad R; Shen, Mengyuan M; Pires, Douglas E V DEV; Ascher, David B DB
Publication Date: 2022-06-21

Variant appearance in text: BRCA1: E1038A
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The effects of genetic polymorphisms on benzene-exposed workers: A systematic review.

Health Science Reports
Ramírez-Lopera, Verónica V; Uribe-Castro, Daniel D; Bautista-Amorocho, Henry H; Silva-Sayago, Jorge Alexander JA; Mateus-Sánchez, Enrique E; Ardila-Barbosa, Wilman Yesid WY; Pérez-Cala, Tania Liseth TL
Publication Date: 2021-09

Variant appearance in text: rs16941
PubMed Link: 34295994
Variant Present in the following documents:
  • Main text
  • HSR2-4-e327.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: BRCA1: 3113A>C; Glu1038Ala
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



Next-generation genome sequencing of a matched normal-tumor pair from a patient with intractable gestational choriocarcinoma: A case report.

Molecular And Clinical Oncology
Niimi, Kaoru K; Yamamoto, Eiko E; Morita, Sachi S; Morikawa, Maki M; Hattori, Hikaru H; Hatakeyama, Miki M; Morita, Mami M; Nishino, Kimihiro K; Oda, Yukari Y; Watanabe, Eri E; Yamamoto, Toshimichi T; Kajiyama, Hiroaki H; Kikkawa, Fumitaka F
Publication Date: 2021-07

Variant appearance in text: rs16941
PubMed Link: 34094541
Variant Present in the following documents:
  • mco-15-01-02305.pdf
View BVdb publication page



Genetics of Familial Non-Medullary Thyroid Carcinoma (FNMTC).

Cancers
Diquigiovanni, Chiara C; Bonora, Elena E
Publication Date: 2021-04-30

Variant appearance in text: rs16941
PubMed Link: 33946592
Variant Present in the following documents:
  • Main text
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs16941
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Identification of Variants (rs11571707, rs144848, and rs11571769) in the BRCA2 Gene Associated with Hereditary Breast Cancer in Indigenous Populations of the Brazilian Amazon.

Genes
Dobbin, Elizabeth Ayres Fragoso EAF; Medeiros, Jéssyca Amanda Gomes JAG; Costa, Marta Solange Camarinha Ramos MSCR; Rodrigues, Juliana Carla Gomes JCG; Guerreiro, João Farias JF; Kroll, José Eduardo JE; Souza, Sandro José de SJ; de Assumpção, Paulo Pimentel PP; Ribeiro-Dos-Santos, Ândrea Â; Santos, Sidney Emanuel Batista Dos SEBD; Burbano, Rommel Mario Rodríguez RMR; Fernandes, Marianne Rodrigues MR; Santos, Ney Pereira Carneiro Dos NPCD
Publication Date: 2021-01-22

Variant appearance in text: rs16941
PubMed Link: 33499154
Variant Present in the following documents:
  • Main text
  • genes-12-00142.pdf
View BVdb publication page



Analytical performance evaluation of a commercial next generation sequencing liquid biopsy platform using plasma ctDNA, reference standards, and synthetic serial dilution samples derived from normal plasma.

Bmc Cancer
Verma, Suman S; Moore, Mathew W MW; Ringler, Rebecca R; Ghosal, Abhisek A; Horvath, Kyle K; Naef, Theodore T; Anvari, Sheri S; Cotter, Philip D PD; Gunn, Shelly S
Publication Date: 2020-10-01

Variant appearance in text: rs16941
PubMed Link: 33004033
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case-Control Study.

The Application Of Clinical Genetics
Al-Khatib, Sohaib M SM; Abdo, Nour N; Al-Eitan, Laith N LN; Al-Mistarehi, Abdel-Hameed W AW; Zahran, Deeb Jamil DJ; Al Ajlouni, Marwan M; Kewan, Tariq Zuheir TZ
Publication Date: 2020

Variant appearance in text: rs16941
PubMed Link: 32606887
Variant Present in the following documents:
  • Main text
  • tacg-13-115.pdf
View BVdb publication page



Germline Mutations in DNA Repair Genes in Patients With Metastatic Castration-resistant Prostate Cancer.

In Vivo (Athens, Greece)
Holeckova, Klaudia K; Baluchova, Katarina K; Hives, Mark M; Musak, Ludovit L; Kliment, Jan J; Skerenova, Maria M
Publication Date: 2020

Variant appearance in text: rs16941
PubMed Link: 32606146
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prediction of the functional impact of missense variants in BRCA1 and BRCA2 with BRCA-ML.

Npj Breast Cancer
Hart, Steven N SN; Polley, Eric C EC; Shimelis, Hermella H; Yadav, Siddhartha S; Couch, Fergus J FJ
Publication Date: 2020

Variant appearance in text: BRCA1: 3113A>C; Glu1038Ala
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Pharmacogenomics Biomarkers of Soft Tissue Sarcoma Therapies.

Frontiers In Oncology
Caruso, Chiara C; Garofalo, Cecilia C
Publication Date: 2020

Variant appearance in text: rs16941
PubMed Link: 32351891
Variant Present in the following documents:
  • Main text
  • fonc-10-00509.pdf
View BVdb publication page



Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Oncogene
Yadav, Santosh S; Anbalagan, Muralidharan M; Baddoo, Melody M; Chellamuthu, Vinodh K VK; Mukhopadhyay, Sudurika S; Woods, Carol C; Jiang, Wei W; Moroz, Krzysztof K; Flemington, Erik K EK; Makridakis, Nick N
Publication Date: 2020-05

Variant appearance in text: rs16941
PubMed Link: 32300177
Variant Present in the following documents:
  • 41388_2020_1280_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Germline variants in DNA repair genes associated with hereditary breast and ovarian cancer syndrome: analysis of a 21 gene panel in the Brazilian population.

Bmc Medical Genomics
da Costa E Silva Carvalho, Simone S; Cury, Nathalia Moreno NM; Brotto, Danielle Barbosa DB; de Araujo, Luiza Ferreira LF; Rosa, Reginaldo Cruz Alves RCA; Texeira, Lorena Alves LA; Plaça, Jessica Rodrigues JR; Marques, Adriana Aparecida AA; Peronni, Kamila Chagas KC; Ruy, Patricia de Cássia PC; Molfetta, Greice Andreotti GA; Moriguti, Julio Cesar JC; Carraro, Dirce Maria DM; Palmero, Edenir Inêz EI; Ashton-Prolla, Patricia P; de Faria Ferraz, Victor Evangelista VE; Silva, Wilson Araujo WA
Publication Date: 2020-02-10

Variant appearance in text: rs16941
PubMed Link: 32039725
Variant Present in the following documents:
  • Main text
View BVdb publication page



Systematic misclassification of missense variants in BRCA1 and BRCA2 "coldspots".

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Dines, Jennifer N JN; Shirts, Brian H BH; Slavin, Thomas P TP; Walsh, Tom T; King, Mary-Claire MC; Fowler, Douglas M DM; Pritchard, Colin C CC
Publication Date: 2020-05

Variant appearance in text: N/A
PubMed Link: 31911673
Variant Present in the following documents:
View BVdb publication page



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
Publication Date: 2020-04

Variant appearance in text: BRCA1: 3113A>C
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Genetic variants and cognitive functions in patients with brain tumors.

Neuro-Oncology
Correa, Denise D DD; Satagopan, Jaya J; Martin, Axel A; Braun, Erica E; Kryza-Lacombe, Maria M; Cheung, Kenneth K; Sharma, Ajay A; Dimitriadoy, Sofia S; O'Connell, Kelli K; Leong, Siok S; Karimi, Sasan S; Lyo, John J; DeAngelis, Lisa M LM; Orlow, Irene I
Publication Date: 2019-10-09

Variant appearance in text: rs16941
PubMed Link: 31123752
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic interaction analysis among oncogenesis-related genes revealed novel genes and networks in lung cancer development.

Oncotarget
Li, Yafang Y; Xiao, Xiangjun X; Bossé, Yohan Y; Gorlova, Olga O; Gorlov, Ivan I; Han, Younghun Y; Byun, Jinyoung J; Leighl, Natasha N; Johansen, Jakob S JS; Barnett, Matt M; Chen, Chu C; Goodman, Gary G; Cox, Angela A; Taylor, Fiona F; Woll, Penella P; Wichmann, H Erich HE; Manz, Judith J; Muley, Thomas T; Risch, Angela A; Rosenberger, Albert A; Han, Jiali J; Siminovitch, Katherine K; Arnold, Susanne M SM; Haura, Eric B EB; Bolca, Ciprian C; Holcatova, Ivana I; Janout, Vladimir V; Kontic, Milica M; Lissowska, Jolanta J; Mukeria, Anush A; Ognjanovic, Simona S; Orlowski, Tadeusz M TM; Scelo, Ghislaine G; Swiatkowska, Beata B; Zaridze, David D; Bakke, Per P; Skaug, Vidar V; Zienolddiny, Shanbeh S; Duell, Eric J EJ; Butler, Lesley M LM; Houlston, Richard R; Artigas, María Soler MS; Grankvist, Kjell K; Johansson, Mikael M; Shepherd, Frances A FA; Marcus, Michael W MW; Brunnström, Hans H; Manjer, Jonas J; Melander, Olle O; Muller, David C DC; Overvad, Kim K; Trichopoulou, Antonia A; Tumino, Rosario R; Liu, Geoffrey G; Bojesen, Stig E SE; Wu, Xifeng X; Le Marchand, Loic L; Albanes, Demetrios D; Bickeböller, Heike H; Aldrich, Melinda C MC; Bush, William S WS; Tardon, Adonina A; Rennert, Gad G; Teare, M Dawn MD; Field, John K JK; Kiemeney, Lambertus A LA; Lazarus, Philip P; Haugen, Aage A; Lam, Stephen S; Schabath, Matthew B MB; Andrew, Angeline S AS; Bertazzi, Pier Alberto PA; Pesatori, Angela C AC; Christiani, David C DC; Caporaso, Neil N; Johansson, Mattias M; McKay, James D JD; Brennan, Paul P; Hung, Rayjean J RJ; Amos, Christopher I CI
Publication Date: 2019-03-05

Variant appearance in text: rs16941
PubMed Link: 30956756
Variant Present in the following documents:
  • Main text
  • oncotarget-10-1760.pdf
View BVdb publication page



A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Publication Date: 2019-03-20

Variant appearance in text: rs16941
PubMed Link: 30894629
Variant Present in the following documents:
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 6
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 9
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 2
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 7
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 11
  • 41598_2019_41277_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs16941
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
View BVdb publication page



Germline variation in BRCA1/2 is highly ethnic-specific: Evidence from over 30,000 Chinese hereditary breast and ovarian cancer patients.

International Journal Of Cancer
Bhaskaran, Shanmuga Priya SP; Chandratre, Khyati K; Gupta, Hemant H; Zhang, Li L; Wang, Xiaoyu X; Cui, Jian J; Kim, Yeong C YC; Sinha, Siddharth S; Jiang, Luhan L; Lu, Boya B; Wu, Xiaobing X; Qin, Zixin Z; Huang, Teng T; Wang, San Ming SM
Publication Date: 2019-08-15

Variant appearance in text: rs16941
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s004.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs16941
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A Dominantly Inherited 5' UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer.

American Journal Of Human Genetics
Evans, D Gareth R DGR; van Veen, Elke M EM; Byers, Helen J HJ; Wallace, Andrew J AJ; Ellingford, Jamie M JM; Beaman, Glenda G; Santoyo-Lopez, Javier J; Aitman, Timothy J TJ; Eccles, Diana M DM; Lalloo, Fiona I FI; Smith, Miriam J MJ; Newman, William G WG
Publication Date: 2018-08-02

Variant appearance in text: rs16941
PubMed Link: 30075112
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine.

Genes
Delgado-Balderas, Jesus Rolando JR; Garza-Rodriguez, Maria Lourdes ML; Gomez-Macias, Gabriela Sofia GS; Barboza-Quintana, Alvaro A; Barboza-Quintana, Oralia O; Cerda-Flores, Ricardo M RM; Miranda-Maldonado, Ivett I; Vazquez-Garcia, Hugo Mauricio HM; Valdez-Chapa, Lezmes Dionicio LD; Antonio-Macedo, Mauro M; Dean, Michael M; Barrera-Saldaña, Hugo A HA
Publication Date: 2018-07-11

Variant appearance in text: rs16941
PubMed Link: 29997359
Variant Present in the following documents:
  • Main text
  • genes-09-00349.pdf
View BVdb publication page



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
Publication Date: 2019-01

Variant appearance in text: BRCA1: E1038A
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Identification of genetic variants for clinical management of familial colorectal tumors.

Bmc Medical Genetics
Dominguez-Valentin, Mev M; Nakken, Sigve S; Tubeuf, Hélène H; Vodak, Daniel D; Ekstrøm, Per Olaf PO; Nissen, Anke M AM; Morak, Monika M; Holinski-Feder, Elke E; Martins, Alexandra A; Møller, Pål P; Hovig, Eivind E
Publication Date: 2018-02-20

Variant appearance in text: rs16941
PubMed Link: 29458332
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_533.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs16941
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Next-generation sequencing reveals lymph node metastasis associated genetic markers in colorectal cancer.

Experimental And Therapeutic Medicine
Xie, Ni N; Yao, Yujiang Y; Wan, Lili L; Zhu, Ting T; Liu, Litao L; Yuan, Jianhui J
Publication Date: 2017-07

Variant appearance in text: rs16941
PubMed Link: 28672935
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA1 missense polymorphisms are associated with poor prognosis of pancreatic cancer patients in a Chinese population.

Oncotarget
Zhu, Ying Y; Zhai, Kan K; Ke, Juntao J; Li, Jiaoyuan J; Gong, Yajie Y; Yang, Yang Y; Tian, Jianbo J; Zhang, Yi Y; Zou, Danyi D; Peng, Xiating X; Gong, Jing J; Zhong, Rong R; Huang, Kun K; Chang, Jiang J; Miao, Xiaoping X
Publication Date: 2017-05-30

Variant appearance in text: rs16941
PubMed Link: 28415599
Variant Present in the following documents:
  • Main text
  • oncotarget-08-36033.pdf
View BVdb publication page



Genetic landscape of a case of extraovarian peritoneal serous papillary carcinoma.

Oncology Letters
Cheng, Zhongping Z; Yang, Weihong W; Guo, Jing J; Luo, Ning N; Chen, Li L; Xie, Yan Y; Qu, Xiaoyan X; Hu, Liping L; Dai, Hong H; Zuo, Xiaoming X
Publication Date: 2016-10

Variant appearance in text: rs16941
PubMed Link: 27698805
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutation Screening of BRCA Genes in 10 Iranian Males with Breast Cancer.

International Journal Of Molecular And Cellular Medicine
Zorrieh Zahra, Atieh A; Kadkhoda, Sepideh S; Behjati, Farkhondeh F; Aghakhani Moghaddam, Fatemeh F; Badiei, Azadeh A; Sirati, Fereidoon F; Afshin Alavi, Hossein H; Atri, Morteza M; Omranipour, Ramesh R; Keyhani, Elahe E
Publication Date: 2016

Variant appearance in text: rs16941
PubMed Link: 27478808
Variant Present in the following documents:
  • Main text
  • ijmcm-5-114.pdf
View BVdb publication page



Sensitivity of BRCA1/2 testing in high-risk breast/ovarian/male breast cancer families: little contribution of comprehensive RNA/NGS panel testing.

European Journal Of Human Genetics : Ejhg
Byers, Helen H; Wallis, Yvonne Y; van Veen, Elke M EM; Lalloo, Fiona F; Reay, Kim K; Smith, Philip P; Wallace, Andrew J AJ; Bowers, Naomi N; Newman, William G WG; Evans, D Gareth DG
Publication Date: 2016-11

Variant appearance in text: rs16941
PubMed Link: 27273131
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs16941
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

Nature Genetics
Day, Felix R FR; Ruth, Katherine S KS; Thompson, Deborah J DJ; Lunetta, Kathryn L KL; Pervjakova, Natalia N; Chasman, Daniel I DI; Stolk, Lisette L; Finucane, Hilary K HK; Sulem, Patrick P; Bulik-Sullivan, Brendan B; Esko, Tõnu T; Johnson, Andrew D AD; Elks, Cathy E CE; Franceschini, Nora N; He, Chunyan C; Altmaier, Elisabeth E; Brody, Jennifer A JA; Franke, Lude L LL; Huffman, Jennifer E JE; Keller, Margaux F MF; McArdle, Patrick F PF; Nutile, Teresa T; Porcu, Eleonora E; Robino, Antonietta A; Rose, Lynda M LM; Schick, Ursula M UM; Smith, Jennifer A JA; Teumer, Alexander A; Traglia, Michela M; Vuckovic, Dragana D; Yao, Jie J; Zhao, Wei W; Albrecht, Eva E; Amin, Najaf N; Corre, Tanguy T; Hottenga, Jouke-Jan JJ; Mangino, Massimo M; Smith, Albert V AV; Tanaka, Toshiko T; Abecasis, Goncalo G; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antoniou, Antonis C AC; Arndt, Volker V; Arnold, Alice M AM; Barbieri, Caterina C; Beckmann, Matthias W MW; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bernstein, Leslie L; Bielinski, Suzette J SJ; Blomqvist, Carl C; Boerwinkle, Eric E; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Borresen-Dale, Anne-Lise AL; Boutin, Thibaud S TS; Brauch, Hiltrud H; Brenner, Hermann H; Brüning, Thomas T; Burwinkel, Barbara B; Campbell, Archie A; Campbell, Harry H; Chanock, Stephen J SJ; Chapman, J Ross JR; Chen, Yii-Der Ida YI; Chenevix-Trench, Georgia G; Couch, Fergus J FJ; Coviello, Andrea D AD; Cox, Angela A; Czene, Kamila K; Darabi, Hatef H; De Vivo, Immaculata I; Demerath, Ellen W EW; Dennis, Joe J; Devilee, Peter P; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Dunning, Alison M AM; Eicher, John D JD; Fasching, Peter A PA; Faul, Jessica D JD; Figueroa, Jonine J; Flesch-Janys, Dieter D; Gandin, Ilaria I; Garcia, Melissa E ME; García-Closas, Montserrat M; Giles, Graham G GG; Girotto, Giorgia G GG; Goldberg, Mark S MS; González-Neira, Anna A; Goodarzi, Mark O MO; Grove, Megan L ML; Gudbjartsson, Daniel F DF; Guénel, Pascal P; Guo, Xiuqing X; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Henderson, Brian E BE; Hocking, Lynne J LJ; Hofman, Albert A; Homuth, Georg G; Hooning, Maartje J MJ; Hopper, John L JL; Hu, Frank B FB; Huang, Jinyan J; Humphreys, Keith K; Hunter, David J DJ; Jakubowska, Anna A; Jones, Samuel E SE; Kabisch, Maria M; Karasik, David D; Knight, Julia A JA; Kolcic, Ivana I; Kooperberg, Charles C; Kosma, Veli-Matti VM; Kriebel, Jennifer J; Kristensen, Vessela V; Lambrechts, Diether D; Langenberg, Claudia C; Li, Jingmei J; Li, Xin X; Lindström, Sara S; Liu, Yongmei Y; Luan, Jian'an J; Lubinski, Jan J; Mägi, Reedik R; Mannermaa, Arto A; Manz, Judith J; Margolin, Sara S; Marten, Jonathan J; Martin, Nicholas G NG; Masciullo, Corrado C; Meindl, Alfons A; Michailidou, Kyriaki K; Mihailov, Evelin E; Milani, Lili L; Milne, Roger L RL; Müller-Nurasyid, Martina M; Nalls, Michael M; Neale, Ben M BM; Nevanlinna, Heli H; Neven, Patrick P; Newman, Anne B AB; Nordestgaard, Børge G BG; Olson, Janet E JE; Padmanabhan, Sandosh S; Peterlongo, Paolo P; Peters, Ulrike U; Petersmann, Astrid A; Peto, Julian J; Pharoah, Paul D P PDP; Pirastu, Nicola N NN; Pirie, Ailith A; Pistis, Giorgio G; Polasek, Ozren O; Porteous, David D; Psaty, Bruce M BM; Pylkäs, Katri K; Radice, Paolo P; Raffel, Leslie J LJ; Rivadeneira, Fernando F; Rudan, Igor I; Rudolph, Anja A; Ruggiero, Daniela D; Sala, Cinzia F CF; Sanna, Serena S; Sawyer, Elinor J EJ; Schlessinger, David D; Schmidt, Marjanka K MK; Schmidt, Frank F; Schmutzler, Rita K RK; Schoemaker, Minouk J MJ; Scott, Robert A RA; Seynaeve, Caroline M CM; Simard, Jacques J; Sorice, Rossella R; Southey, Melissa C MC; Stöckl, Doris D; Strauch, Konstantin K; Swerdlow, Anthony A; Taylor, Kent D KD; Thorsteinsdottir, Unnur U; Toland, Amanda E AE; Tomlinson, Ian I; Truong, Thérèse T; Tryggvadottir, Laufey L; Turner, Stephen T ST; Vozzi, Diego D; Wang, Qin Q; Wellons, Melissa M; Willemsen, Gonneke G; Wilson, James F JF; Winqvist, Robert R; Wolffenbuttel, Bruce B H R BBHR; Wright, Alan F AF; Yannoukakos, Drakoulis D; Zemunik, Tatijana T; Zheng, Wei W; Zygmunt, Marek M; Bergmann, Sven S; Boomsma, Dorret I DI; Buring, Julie E JE; Ferrucci, Luigi L; Montgomery, Grant W GW; Gudnason, Vilmundur V; Spector, Tim D TD; van Duijn, Cornelia M CM; Alizadeh, Behrooz Z BZ; Ciullo, Marina M; Crisponi, Laura L; Easton, Douglas F DF; Gasparini, Paolo P PP; Gieger, Christian C; Harris, Tamara B TB; Hayward, Caroline C; Kardia, Sharon L R SLR; Kraft, Peter P; McKnight, Barbara B; Metspalu, Andres A; Morrison, Alanna C AC; Reiner, Alex P AP; Ridker, Paul M PM; Rotter, Jerome I JI; Toniolo, Daniela D; Uitterlinden, André G AG; Ulivi, Sheila S; Völzke, Henry H; Wareham, Nicholas J NJ; Weir, David R DR; Yerges-Armstrong, Laura M LM; , ; , ; , ; , ; , ; , ; Price, Alkes L AL; Stefansson, Kari K; Visser, Jenny A JA; Ong, Ken K KK; Chang-Claude, Jenny J; Murabito, Joanne M JM; Perry, John R B JRB; Murray, Anna A
Publication Date: 2015-11

Variant appearance in text: rs16941
PubMed Link: 26414677
Variant Present in the following documents:
  • Main text
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New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

Bmc Medical Genomics
Kluska, Anna A; Balabas, Aneta A; Paziewska, Agnieszka A; Kulecka, Maria M; Nowakowska, Dorota D; Mikula, Michal M; Ostrowski, Jerzy J
Publication Date: 2015-05-07

Variant appearance in text: rs16941
PubMed Link: 25948282
Variant Present in the following documents:
  • 12920_2015_92_MOESM1_ESM.xlsx, sheet 1
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Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in the Cuban population.

Bmc Genetics
Pereda, Celia M CM; Lesueur, Fabienne F; Pertesi, Maroulio M; Robinot, Nivonirina N; Lence-Anta, Juan J JJ; Turcios, Silvia S; Velasco, Milagros M; Chappe, Mae M; Infante, Idalmis I; Bustillo, Marlene M; García, Anabel A; Clero, Enora E; Xhaard, Constance C; Ren, Yan Y; Maillard, Stéphane S; Damiola, Francesca F; Rubino, Carole C; Salazar, Sirced S; Rodriguez, Regla R; Ortiz, Rosa M RM; de Vathaire, Florent F
Publication Date: 2015-03-01

Variant appearance in text: rs16941
PubMed Link: 25879635
Variant Present in the following documents:
  • Main text
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Oncogenic mutation profiling in new lung cancer and mesothelioma cell lines.

Oncotargets And Therapy
Lam, David Cl DC; Luo, Susan Y SY; Deng, Wen W; Kwan, Johnny Sh JSh; Rodriguez-Canales, Jaime J; Cheung, Annie Lm AL; Cheng, Grace Hw GH; Lin, Chi-Ho CH; Wistuba, Ignacio I II; Sham, Pak C PC; Wan, Thomas Sk TS; Tsao, Sai-Wah SW
Publication Date: 2015

Variant appearance in text: rs16941
PubMed Link: 25653542
Variant Present in the following documents:
  • Main text
  • ott-8-195.pdf
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BRCA1 haplotype and clinical benefit of trabectedin in soft-tissue sarcoma patients.

British Journal Of Cancer
Laroche-Clary, A A; Chaire, V V; Le Morvan, V V; Neuville, A A; Bertucci, F F; Salas, S S; Sanfilippo, R R; Pourquier, P P; Italiano, A A
Publication Date: 2015-02-17

Variant appearance in text: rs16941
PubMed Link: 25602962
Variant Present in the following documents:
  • Main text
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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs16941
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
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Long-range PCR in next-generation sequencing: comparison of six enzymes and evaluation on the MiSeq sequencer.

Scientific Reports
Jia, Haiying H; Guo, Yunfei Y; Zhao, Weiwei W; Wang, Kai K
Publication Date: 2014-07-18

Variant appearance in text: rs16941
PubMed Link: 25034901
Variant Present in the following documents:
  • srep05737-s1.xls, sheet 3
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Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

Scientific Reports
Cunningham, J M JM; Cicek, M S MS; Larson, N B NB; Davila, J J; Wang, C C; Larson, M C MC; Song, H H; Dicks, E M EM; Harrington, P P; Wick, M M; Winterhoff, B J BJ; Hamidi, H H; Konecny, G E GE; Chien, J J; Bibikova, M M; Fan, J-B JB; Kalli, K R KR; Lindor, N M NM; Fridley, B L BL; Pharoah, P P D PP; Goode, E L EL
Publication Date: 2014-02-07

Variant appearance in text: rs16941
PubMed Link: 24504028
Variant Present in the following documents:
  • srep04026-s1.pdf
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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs16941
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
  • mmc5.xlsx, sheet 3
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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs16941
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
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Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.

American Journal Of Hematology
Chen, Yingtai Y; Zheng, Tongzhang T; Lan, Qing Q; Kim, Christopher C; Qin, Qin Q; Foss, Francine F; Chen, Xuezhong X; Holford, Theodore T; Leaderer, Brian B; Boyle, Peter P; Wang, Chengfeng C; Dai, Min M; Liu, Zhenjiang Z; Ma, Shuangge S; Chanock, Stephen J SJ; Rothman, Nathaniel N; Zhang, Yawei Y
Publication Date: 2013-07

Variant appearance in text: rs16941
PubMed Link: 23619945
Variant Present in the following documents:
  • Main text
View BVdb publication page