BRCA1 c.2755C>T ;(p.P919S)

Variant ID: 17-41244793-G-A

NM_007294.3(BRCA1):c.2755C>T;(p.P919S)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


A nomogram based on genotypic and clinicopathologic factors to predict the non-sentinel lymph node metastasis in Chinese women breast cancer patients.

Frontiers In Oncology
Zhu, Liling L; Liu, Ke K; Bao, Baoshi B; Li, Fengyun F; Liang, Wentao W; Jiang, Zhaoyun Z; Hao, Xiaopeng X; Wang, Jiandong J
Publication Date: 2023

Variant appearance in text: BRCA1: Pro919Ser
PubMed Link: 37152050
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
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: P919S
PubMed Link: 35729312
Variant Present in the following documents:
  • 41598_2022_13508_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology
Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M
Publication Date: 2022

Variant appearance in text: BRCA1: Pro919Ser
PubMed Link: 35112701
Variant Present in the following documents:
  • 1415-4757-GMB-45-1-e20210172-s6.pdf
  • 1415-4757-GMB-45-1-e20210172.pdf
View BVdb publication page



Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology
Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M
Publication Date: 2022

Variant appearance in text: BRCA1: Pro919Ser
PubMed Link: 35112701
Variant Present in the following documents:
  • 1415-4757-GMB-45-1-e20210172-s6.pdf
  • 1415-4757-GMB-45-1-e20210172.pdf
View BVdb publication page



The repair gene BACH1 - a potential oncogene.

Oncology Reviews
Muhseena N, Katheeja K; Mathukkada, Sooraj S; Das, Shankar Prasad SP; Laha, Suparna S
Publication Date: 2021-02-26

Variant appearance in text: BRCA1: Pro919Ser
PubMed Link: 34322202
Variant Present in the following documents:
  • onco-15-1-519.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: BRCA1: 2755C>T; Pro919Ser
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
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: 2755C>T; Pro919Ser
PubMed Link: 32377563
Variant Present in the following documents:
  • 41523_2020_159_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Association of Single-Nucleotide Polymorphisms in Monoubiquitinated FANCD2-DNA Damage Repair Pathway Genes With Breast Cancer in the Chinese Population.

Technology In Cancer Research & Treatment
Chen, Fei-Yu FY; Wang, Hao H; Li, Hui H; Hu, Xue-Li XL; Dai, Xu X; Wang, Shou-Man SM; Yan, Guo-Jiao GJ; Jiang, Ping-Lan PL; Hu, Yuan-Ping YP; Huang, Juan J; Tang, Li-Li LL
Publication Date: 2018-01-01

Variant appearance in text: BRCA1: Pro919Ser
PubMed Link: 30799775
Variant Present in the following documents:
  • Main text
  • 10.1177_1533033818819841.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: P919S
PubMed Link: 29884841
Variant Present in the following documents:
  • NIHMS953431-supplement-Table_S2.xls, sheet 1
View BVdb publication page



Four common polymorphisms of BRIP1 (rs2048718, rs4988344, rs4986764, and rs6504074) and cancer risk: evidence from 13,716 cancer patients and 15,590 cancer-free controls.

Aging
Liu, Di D; Zheng, Yi Y; Wang, Meng M; Deng, Yujiao Y; Lin, Shuai S; Zhou, Linghui L; Yang, Pengtao P; Dai, Cong C; Xu, Peng P; Hao, Qian Q; Song, Dingli D; Kang, Huafeng H; Dai, Zhijun Z
Publication Date: 2018-02-16

Variant appearance in text: BRCA1: P919S
PubMed Link: 29466248
Variant Present in the following documents:
  • Main text
  • aging-10-101388.pdf
View BVdb publication page



BRIP1 overexpression is correlated with clinical features and survival outcome of luminal breast cancer subtypes.

Endocrine Connections
Gupta, Ishita I; Ouhtit, Allal A; Al-Ajmi, Adil A; Rizvi, Syed Gauhar A SGA; Al-Riyami, Hamad H; Al-Riyami, Marwa M; Tamimi, Yahya Y
Publication Date: 2018-01

Variant appearance in text: BRCA1: 2755C>T
PubMed Link: 29138235
Variant Present in the following documents:
  • Main text
  • ec-7-65.pdf
View BVdb publication page



BRIP1/FANCJ Mutation Analysis in a Family with History of Male and Female Breast Cancer in India.

Journal Of Breast Cancer
Venkateshwari, Ananthapur A; Clark, David Wayne DW; Nallari, Pratibha P; Vinod, Cingeetham C; Kumarasamy, Thangaraj T; Reddy, Goverdhan G; Jyothy, Akka A; Kumar, Malladi Vijay MV; Ramaiyer, Raghuraman R; Palle, Komaraiah K
Publication Date: 2017-03

Variant appearance in text: BRCA1: P919S
PubMed Link: 28382101
Variant Present in the following documents:
  • Main text
  • jbc-20-104.pdf
View BVdb publication page



Genetics of breast cancer: a topic in evolution.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Shiovitz, S S; Korde, L A LA
Publication Date: 2015-07

Variant appearance in text: BRCA1: Pro919Ser
PubMed Link: 25605744
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correlation of the BACH1 Pro919Ser polymorphism with breast cancer risk: A literature-based meta-analysis and meta-regression analysis.

Experimental And Therapeutic Medicine
Shi, Jing J; Tong, Jianhua J; Cai, Shuang S; Qu, Xiujuan X; Liu, Yunpeng Y
Publication Date: 2013-08

Variant appearance in text: BRCA1: Pro919Ser
PubMed Link: 24137204
Variant Present in the following documents:
  • Main text
  • etm-06-02-0435.pdf
View BVdb publication page



Screening for BRCA1, BRCA2, CHEK2, PALB2, BRIP1, RAD50, and CDH1 mutations in high-risk Finnish BRCA1/2-founder mutation-negative breast and/or ovarian cancer individuals.

Breast Cancer Research : Bcr
Kuusisto, Kirsi M KM; Bebel, Aleksandra A; Vihinen, Mauno M; Schleutker, Johanna J; Sallinen, Satu-Leena SL
Publication Date: 2011-02-28

Variant appearance in text: BRCA1: Pro919Ser
PubMed Link: 21356067
Variant Present in the following documents:
  • Main text
  • bcr2832.pdf
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: BRCA1: P919S
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File011.xls, sheet 2
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 2
View BVdb publication page



Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.

Radiation Research
Sigurdson, Alice J AJ; Land, Charles E CE; Bhatti, Parveen P; Pineda, Marbin M; Brenner, Alina A; Carr, Zhanat Z; Gusev, Boris I BI; Zhumadilov, Zhaxibay Z; Simon, Steven L SL; Bouville, Andre A; Rutter, Joni L JL; Ron, Elaine E; Struewing, Jeffery P JP
Publication Date: 2009-01

Variant appearance in text: BRCA1: P919S
PubMed Link: 19138047
Variant Present in the following documents:
  • Main text
View BVdb publication page



A recurrent truncating germline mutation in the BRIP1/FANCJ gene and susceptibility to prostate cancer.

British Journal Of Cancer
Kote-Jarai, Z Z; Jugurnauth, S S; Mulholland, S S; Leongamornlert, D A DA; Guy, M M; Edwards, S S; Tymrakiewitcz, M M; O'Brien, L L; Hall, A A; Wilkinson, R R; Al Olama, A A AA; Morrison, J J; Muir, K K; Neal, D D; Donovan, J J; Hamdy, F F; Easton, D F DF; Eeles, R R; , ; ,
Publication Date: 2009-01-27

Variant appearance in text: BRCA1: 2755C>T; Pro919Ser
PubMed Link: 19127258
Variant Present in the following documents:
  • Main text
View BVdb publication page



A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
De Nicolo, Arcangela A; Tancredi, Mariella M; Lombardi, Grazia G; Flemma, Cristina Chantal CC; Barbuti, Serena S; Di Cristofano, Claudio C; Sobhian, Bijan B; Bevilacqua, Generoso G; Drapkin, Ronny R; Caligo, Maria Adelaide MA
Publication Date: 2008-07-15

Variant appearance in text: BRCA1: 2755C>T; Pro919Ser
PubMed Link: 18628483
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study.

Bmc Cancer
Frank, Bernd B; Hemminki, Kari K; Meindl, Alfons A; Wappenschmidt, Barbara B; Sutter, Christian C; Kiechle, Marion M; Bugert, Peter P; Schmutzler, Rita K RK; Bartram, Claus R CR; Burwinkel, Barbara B
Publication Date: 2007-05-15

Variant appearance in text: BRCA1: Pro919Ser
PubMed Link: 17504528
Variant Present in the following documents:
  • Main text
  • 1471-2407-7-83.pdf
View BVdb publication page



Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

Bmc Cancer
Sigurdson, Alice J AJ; Hauptmann, Michael M; Chatterjee, Nilanjan N; Alexander, Bruce H BH; Doody, Michele Morin MM; Rutter, Joni L JL; Struewing, Jeffery P JP
Publication Date: 2004-03-12

Variant appearance in text: BRCA1: P919S
PubMed Link: 15113441
Variant Present in the following documents:
  • Main text
  • 1471-2407-4-9.pdf
View BVdb publication page