BRCA1 c.5335del ;(p.Q1779Nfs*14)

Variant ID: 17-41201209-TG-T

NM_007294.3(BRCA1):c.5335del;(p.Q1779Nfs*14)

This variant was identified in 29 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: BRCA1: 5335del; Gln1779fs; rs80357590
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: BRCA1: 5335del; Gln1779fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.

Plos One
Rao, Nandana D ND; Shirts, Brian H BH
Publication Date: 2023

Variant appearance in text: BRCA1: 5335del
PubMed Link: 36753473
Variant Present in the following documents:
  • pone.0278010.s002.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: 5335del
PubMed Link: 36385461
Variant Present in the following documents:
  • Main text
  • IJC-152-1159-s006.xlsx, sheet 2
  • IJC-152-1159-s010.xlsx, sheet 1
  • IJC-152-1159-s001.xlsx, sheet 1
  • IJC-152-1159.pdf
  • IJC-152-1159-s010.xlsx, sheet 6
  • IJC-152-1159-s007.xlsx, sheet 1
  • IJC-152-1159-s002.xlsx, sheet 1
  • IJC-152-1159-s011.xlsx, sheet 1
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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
Publication Date: 2022-11-07

Variant appearance in text: BRCA1: 5335delC; Q1779fs
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM14_ESM.xlsx, sheet 3
View BVdb publication page



Identification of the most common BRCA alterations through analysis of germline mutation databases: Is droplet digital PCR an additional strategy for the assessment of such alterations in breast and ovarian cancer families?

International Journal Of Oncology
Lavoro, Alessandro A; Scalisi, Aurora A; Candido, Saverio S; Zanghì, Guido Nicola GN; Rizzo, Roberta R; Gattuso, Giuseppe G; Caruso, Giuseppe G; Libra, Massimo M; Falzone, Luca L
Publication Date: 2022-05

Variant appearance in text: BRCA1: 5335del
PubMed Link: 35383859
Variant Present in the following documents:
  • ijo-60-05-05349.pdf
View BVdb publication page



Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.

Bmc Cancer
ElBiad, Oubaida O; Laraqui, Abdelilah A; El Boukhrissi, Fatima F; Mounjid, Chaimaa C; Lamsisi, Maryame M; Bajjou, Tahar T; Elannaz, Hicham H; Lahlou, Amine Idriss AI; Kouach, Jaouad J; Benchekroune, Khadija K; Oukabli, Mohammed M; Chahdi, Hafsa H; Ennaji, Moulay Mustapha MM; Tanz, Rachid R; Sbitti, Yassir Y; Ichou, Mohammed M; Ennibi, Khalid K; Badaoui, Bouabid B; Sekhsokh, Yassine Y
Publication Date: 2022-02-25

Variant appearance in text: BRCA1: 5335delC; Gln1779fs
PubMed Link: 35216584
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9181.pdf
View BVdb publication page



BRCA1/2 Mutations in Vietnamese Patients with Hereditary Breast and Ovarian Cancer Syndrome.

Genes
Le, Trong-Nhan N TN; Tran, Van-Khanh VK; Nguyen, Thu-Thuy TT; Vo, Nam S NS; Hoang, Tham H TH; Vo, Hoang-Long HL; Nguyen, Thanh-Hai T TT; Nguyen, Phuoc-Dung PD; Nguyen, Viet-Tien VT; Ta, Thanh-Van TV; Tran, Huy-Thinh HT
Publication Date: 2022-01-29

Variant appearance in text: BRCA1: 5335delC
PubMed Link: 35205313
Variant Present in the following documents:
  • Main text
View BVdb publication page



Human BRCA pathogenic variants were originated during recent human history.

Life Science Alliance
Li, Jiaheng J; Zhao, Bojin B; Huang, Teng T; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2022-05

Variant appearance in text: BRCA1: 5335delC
PubMed Link: 35165121
Variant Present in the following documents:
  • LSA-2021-01263_TableS5.xlsx, sheet 2
View BVdb publication page



New Insights Into c.815_824dup Pathogenic Variant of BRCA1 in Inherited Breast Cancer: A Founder Mutation of West African Origin.

Frontiers In Oncology
Diop, Jean Pascal Demba JPD; Sène, Andréa Régina Gnilane ARG; Dia, Yacouba Y; Ba, Seydi Abdoul SA; Mbacke, Serigne Saliou SS; Ly, Cheikh Ameth Tidiane CAT; Sarr, Pierre Diaga PD; Diouf, Doudou D; Ka, Sidy S; Mbengue, Babacar B; Gueye, Serigne Modou Kane SMK; Diop, Pape Saloum PS; Sylla Niang, Maguette M; Gueye, Papa Madieye PM; Lopez Sall, Philomene P; Dem, Ahmadou A; Cisse, Aynina A; Dieye, Alioune A; Ndiaye, Rokhaya R
Publication Date: 2021

Variant appearance in text: BRCA1: 5335delC; Gln1779Asnfs
PubMed Link: 35096615
Variant Present in the following documents:
  • Main text
  • fonc-11-810060.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: 5335delC; Gln1779Asnfs; rs80357590
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



BRCA1 and BRCA2 Variation in Taiwanese General Population and the Cancer Cohort.

Frontiers In Molecular Biosciences
Chian, Jiasheng J; Sinha, Siddharth S; Qin, Zixin Z; Wang, San Ming SM
Publication Date: 2021

Variant appearance in text: BRCA1: 5335delC
PubMed Link: 34235180
Variant Present in the following documents:
  • Main text
  • fmolb-08-685174.pdf
View BVdb publication page



Implementing genomic screening in diverse populations.

Genome Medicine
Abul-Husn, Noura S NS; Soper, Emily R ER; Braganza, Giovanna T GT; Rodriguez, Jessica E JE; Zeid, Natasha N; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Merkelson, Amanda A; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE
Publication Date: 2021-02-05

Variant appearance in text: BRCA1: 5335delC; Gln1779fs
PubMed Link: 33546753
Variant Present in the following documents:
  • 13073_2021_832_MOESM1_ESM.pdf
View BVdb publication page



The mutational pattern of homologous recombination (HR)-associated genes and its relevance to the immunotherapeutic response in gastric cancer.

Cancer Biology & Medicine
Fan, Yue Y; Ying, Haifeng H; Wu, Xueying X; Chen, Huan H; Hu, Ying Y; Zhang, Henghui H; Wu, Lijia L; Yang, Ying Y; Mao, Beibei B; Zheng, Lan L
Publication Date: 2020-11-15

Variant appearance in text: BRCA1: 5335delC; Q1779Nfs*14
PubMed Link: 33299649
Variant Present in the following documents:
  • cbm-17-1002-s001.pdf
View BVdb publication page



Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis.

Breast Cancer (Tokyo, Japan)
Yoshida, Reiko R
Publication Date: 2021-11

Variant appearance in text: BRCA1: 5335delC
PubMed Link: 32862296
Variant Present in the following documents:
  • Main text
View BVdb publication page



Recurrent BRCA1 Mutation, but no BRCA2 Mutation, in Vietnamese Patients with Ovarian Carcinoma Detected with Next Generation Sequencing.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Vu, Hoang Anh HA; Phu, Ngo Dai ND; Khuong, Le Thai LT; Hoa, Pham Huy PH; Nhu, Bui Thi Hong BTH; Nhan, Vo Thanh VT; Thanh, Le Quang LQ; Sinh, Nguyen Duy ND; Chi, Hoang Thanh HT; Quan, Nguyen Dang ND; Binh, Nguyen Trong NT
Publication Date: 2020-08-01

Variant appearance in text: BRCA1: 5335delC
PubMed Link: 32856862
Variant Present in the following documents:
  • Main text
  • APJCP-21-2331.pdf
View BVdb publication page



OncoOmics approaches to reveal essential genes in breast cancer: a panoramic view from pathogenesis to precision medicine.

Scientific Reports
López-Cortés, Andrés A; Paz-Y-Miño, César C; Guerrero, Santiago S; Cabrera-Andrade, Alejandro A; Barigye, Stephen J SJ; Munteanu, Cristian R CR; González-Díaz, Humberto H; Pazos, Alejandro A; Pérez-Castillo, Yunierkis Y; Tejera, Eduardo E
Publication Date: 2020-03-24

Variant appearance in text: BRCA1: Q1779Nfs*14
PubMed Link: 32210335
Variant Present in the following documents:
  • 41598_2020_62279_MOESM2_ESM.xlsx, sheet 33
View BVdb publication page



Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal.

Npj Genomic Medicine
Ndiaye, Rokhaya R; Diop, Jean Pascal Demba JPD; Bourdon-Huguenin, Violaine V; Dem, Ahmadou A; Diouf, Doudou D; Dieng, Mamadou Moustapha MM; Diop, Pape Saloum PS; Kane Gueye, Serigne Modou SM; Ba, Seydi Abdoul SA; Dia, Yacouba Y; Ka, Sidy S; Mbengue, Babacar B; Thiam, Alassane A; Sylla Niang, Maguette M; Gueye, Papa Madieye PM; Faye, Oumar O; Lopez Sall, Philomene P; Cisse, Aynina A; Diop, Papa Amadou PA; Sobol, Hagay H; Dieye, Alioune A
Publication Date: 2020

Variant appearance in text: BRCA1: 5335delC; Gln1779Asnfs
PubMed Link: 32025337
Variant Present in the following documents:
  • Main text
  • 41525_2020_Article_114.pdf
View BVdb publication page



Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.

Genome Medicine
Abul-Husn, Noura S NS; Soper, Emily R ER; Odgis, Jacqueline A JA; Cullina, Sinead S; Bobo, Dean D; Moscati, Arden A; Rodriguez, Jessica E JE; , ; , ; Loos, Ruth J F RJF; Cho, Judy H JH; Belbin, Gillian M GM; Suckiel, Sabrina A SA; Kenny, Eimear E EE
Publication Date: 2019-12-31

Variant appearance in text: BRCA1: 5335delC
PubMed Link: 31892343
Variant Present in the following documents:
  • Main text
  • 13073_2019_691_MOESM1_ESM.pdf
  • 13073_2019_Article_691.pdf
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: 5335delC
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.

Peerj
Nicolussi, Arianna A; Belardinilli, Francesca F; Mahdavian, Yasaman Y; Colicchia, Valeria V; D'Inzeo, Sonia S; Petroni, Marialaura M; Zani, Massimo M; Ferraro, Sergio S; Valentini, Virginia V; Ottini, Laura L; Giannini, Giuseppe G; Capalbo, Carlo C; Coppa, Anna A
Publication Date: 2019

Variant appearance in text: BRCA1: 5335_5335delC; Gln1779Asnfs
PubMed Link: 31065452
Variant Present in the following documents:
  • Main text
  • peerj-07-6661.pdf
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: BRCA1: 5335delC
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Rapid detection of BRCA1/2 recurrent mutations in Chinese breast and ovarian cancer patients with multiplex SNaPshot genotyping panels.

Oncotarget
Kwong, Ava A; Ho, John C W JCW; Shin, Vivian Y VY; Kurian, Allison W AW; Tai, Edmund E; Esserman, Laura J LJ; Weitzel, Jeffery N JN; Lin, Po-Han PH; Field, Michael M; Domchek, Susan M SM; Lo, Jessica J; Ngan, Hextan Y S HYS; Ma, Edmond S K ESK; Chan, Tsun L TL; Ford, James M JM
Publication Date: 2018-01-30

Variant appearance in text: BRCA1: 5335delC; Gln1779Asnfs
PubMed Link: 29487695
Variant Present in the following documents:
  • Main text
  • oncotarget-09-7832.pdf
View BVdb publication page



Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia.

Journal Of Medical Genetics
Wen, Wei Xiong WX; Allen, Jamie J; Lai, Kah Nyin KN; Mariapun, Shivaani S; Hasan, Siti Norhidayu SN; Ng, Pei Sze PS; Lee, Daphne Shin-Chi DS; Lee, Sheau Yee SY; Yoon, Sook-Yee SY; Lim, Joanna J; Lau, Shao Yan SY; Decker, Brennan B; Pooley, Karen K; Dorling, Leila L; Luccarini, Craig C; Baynes, Caroline C; Conroy, Don M DM; Harrington, Patricia P; Simard, Jacques J; Yip, Cheng Har CH; Mohd Taib, Nur Aishah NA; Ho, Weang Kee WK; Antoniou, Antonis C AC; Dunning, Alison M AM; Easton, Douglas F DF; Teo, Soo Hwang SH
Publication Date: 2018-02

Variant appearance in text: BRCA1: 5335delC; Q1779fs
PubMed Link: 28993434
Variant Present in the following documents:
  • jmedgenet-2017-104947supp001.pdf
View BVdb publication page



Mutations in context: implications of BRCA testing in diverse populations.

Familial Cancer
Felix, Gabriela E S GES; Zheng, Yonglan Y; Olopade, Olufunmilayo I OI
Publication Date: 2018-10

Variant appearance in text: BRCA1: 5335delC
PubMed Link: 28918466
Variant Present in the following documents:
  • Main text
View BVdb publication page



BRCA locus-specific loss of heterozygosity in germline BRCA1 and BRCA2 carriers.

Nature Communications
Maxwell, Kara N KN; Wubbenhorst, Bradley B; Wenz, Brandon M BM; De Sloover, Daniel D; Pluta, John J; Emery, Lyndsey L; Barrett, Amanda A; Kraya, Adam A AA; Anastopoulos, Ioannis N IN; Yu, Shun S; Jiang, Yuchao Y; Chen, Hao H; Zhang, Nancy R NR; Hackman, Nicole N; D'Andrea, Kurt K; Daber, Robert R; Morrissette, Jennifer J D JJD; Mitra, Nandita N; Feldman, Michael M; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2017-08-22

Variant appearance in text: BRCA1: 5335delC; Q1779fs
PubMed Link: 28831036
Variant Present in the following documents:
  • 41467_2017_388_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Prevalence and spectrum of germline rare variants in BRCA1/2 and PALB2 among breast cancer cases in Sarawak, Malaysia.

Breast Cancer Research And Treatment
Yang, Xiaohong R XR; Devi, Beena C R BCR; Sung, Hyuna H; Guida, Jennifer J; Mucaki, Eliseos J EJ; Xiao, Yanzi Y; Best, Ana A; Garland, Lisa L; Xie, Yi Y; Hu, Nan N; Rodriguez-Herrera, Maria M; Wang, Chaoyu C; Jones, Kristine K; Luo, Wen W; Hicks, Belynda B; Tang, Tieng Swee TS; Moitra, Karobi K; Rogan, Peter K PK; Dean, Michael M
Publication Date: 2017-10

Variant appearance in text: BRCA1: 5335delC; rs80357590
PubMed Link: 28664506
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: BRCA1: 5335delC; Gln1779Asnfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

Journal Of Medical Genetics
Kwong, Ava A; Shin, Vivian Y VY; Ho, John C W JC; Kang, Eunyoung E; Nakamura, Seigo S; Teo, Soo-Hwang SH; Lee, Ann S G AS; Sng, Jen-Hwei JH; Ginsburg, Ophira M OM; Kurian, Allison W AW; Weitzel, Jeffrey N JN; Siu, Man-Ting MT; Law, Fian B F FB; Chan, Tsun-Leung TL; Narod, Steven A SA; Ford, James M JM; Ma, Edmond S K ES; Kim, Sung-Won SW
Publication Date: 2016-01

Variant appearance in text: BRCA1: 5335delC
PubMed Link: 26187060
Variant Present in the following documents:
  • Main text
View BVdb publication page