BRCA1 c.4097-141A>C

Variant ID: 17-41243190-T-G

NM_007294.3(BRCA1):c.4097-141A>C

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs799916
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: 4097-141A>C; rs799916
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s009.xlsx, sheet 3
  • IJC-152-1159-s002.xlsx, sheet 1
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs799916
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Case Report: Primary Leptomeningeal Medulloblastoma in a Child: Clinical Case Report and Literature Review.

Frontiers In Pediatrics
Morgacheva, Daria D; Daks, Alexandra A; Smirnova, Anna A; Kim, Aleksandr A; Ryzhkova, Daria D; Mitrofanova, Lubov L; Staliarova, Alena A; Omelina, Evgeniya E; Pindyurin, Alexey A; Fedorova, Olga O; Shuvalov, Oleg O; Petukhov, Alexey A; Dinikina, Yulia Y
Publication Date: 2022

Variant appearance in text: BRCA1: 4097-141A>C; rs799916
PubMed Link: 35899134
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Characterization of Synonymous BRCA1:c.132C>T as a Pathogenic Variant.

Frontiers In Oncology
Li, Jun J; Wang, Ping P; Zhang, Cuiyun C; Han, Sile S; Xiao, Han H; Liu, Zhiyuan Z; Wang, Xiaoyan X; Liu, Weiling W; Wei, Bing B; Ma, Jie J; Li, Hongle H; Guo, Yongjun Y
Publication Date: 2021

Variant appearance in text: rs799916
PubMed Link: 35087763
Variant Present in the following documents:
  • Main text
  • fonc-11-812656.pdf
View BVdb publication page



Influence of single nucleotide polymorphisms among cigarette smoking and non-smoking patients with coronary artery disease, urinary bladder cancer and lung cancer.

Plos One
Laytragoon Lewin, Nongnit N; Karlsson, Jan-Erik JE; Robinsson, David D; Fagerberg, Matida M; Kentsson, Magnus M; Sayardoust, Shariel S; Nilsson, Mats M; Shamoun, Levar L; Andersson, Bengt-Åke BÅ; Löfgren, Sture S; Rutqvist, Lars Erik LE; Lewin, Freddi F
Publication Date: 2021

Variant appearance in text: rs799916
PubMed Link: 33507988
Variant Present in the following documents:
  • Main text
  • pone.0243084.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: BRCA1: 4097-141A>C; rs799916
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: rs799916
PubMed Link: 30702160
Variant Present in the following documents:
  • IJC-145-962-s004.xlsx, sheet 1
View BVdb publication page



A genome wide SNP genotyping study in the Tunisian population: specific reporting on a subset of common breast cancer risk loci.

Bmc Cancer
Hamdi, Yosr Y; Ben Rekaya, Mariem M; Jingxuan, Shan S; Nagara, Majdi M; Messaoud, Olfa O; Benammar Elgaaied, Amel A; Mrad, Ridha R; Chouchane, Lotfi L; Boubaker, Mohamed Samir MS; Abdelhak, Sonia S; Boussen, Hamouda H; Romdhane, Lilia L
Publication Date: 2018-12-29

Variant appearance in text: BRCA1: 4097-141A>C; rs799916
PubMed Link: 30594178
Variant Present in the following documents:
  • Main text
  • 12885_2018_Article_5133.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: BRCA1: 4097-141A>C; rs799916
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.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: rs799916
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A Chinese family affected by lynch syndrome caused by MLH1 mutation.

Bmc Medical Genetics
Jia, Shuqin S; Zhang, Meng M; Sun, Yu Y; Yan, Hai H; Zhao, Fangping F; Li, Ziyu Z; Ji, Jiafu J
Publication Date: 2018-06-22

Variant appearance in text: rs799916
PubMed Link: 29929473
Variant Present in the following documents:
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 2
  • 12881_2018_605_MOESM2_ESM.xlsx, sheet 1
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: rs799916
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Scientific Reports
Castellanos, Elisabeth E; Gel, Bernat B; Rosas, Inma I; Tornero, Eva E; Santín, Sheila S; Pluvinet, Raquel R; Velasco, Juan J; Sumoy, Lauro L; Del Valle, Jesús J; Perucho, Manuel M; Blanco, Ignacio I; Navarro, Matilde M; Brunet, Joan J; Pineda, Marta M; Feliubadaló, Lidia L; Capellá, Gabi G; Lázaro, Conxi C; Serra, Eduard E
Publication Date: 2017-01-04

Variant appearance in text: BRCA1: 4097-141A>C; rs799916
PubMed Link: 28051113
Variant Present in the following documents:
  • srep39348-s1.pdf
View BVdb publication page



Clinically Significant Unclassified Variants in BRCA1 and BRCA2 genes among Korean Breast Cancer Patients.

Cancer Research And Treatment
Yoon, Kyong-Ah KA; Park, Boyoung B; Lee, Byung Il BI; Yang, Moon Jung MJ; Kong, Sun-Young SY; Lee, Eun Sook ES
Publication Date: 2017-07

Variant appearance in text: rs799916
PubMed Link: 27658390
Variant Present in the following documents:
  • Main text
  • crt-2016-292.pdf
View BVdb publication page



Haplotype and linkage disequilibrium architecture for human cancer-associated genes.

Genome Research
Bonnen, Penelope E PE; Wang, Peggy J PJ; Kimmel, Marek M; Chakraborty, Ranajit R; Nelson, David L DL
Publication Date: 2002-12

Variant appearance in text: rs799916
PubMed Link: 12466288
Variant Present in the following documents:
  • Main text
View BVdb publication page