BRCA2 c.4169del ;(p.L1390Wfs*20)

Variant ID: 13-32912655-CT-C

NM_000059.3(BRCA2):c.4169del;(p.L1390Wfs*20)

This variant was identified in 13 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: BRCA2: 4169del; Leu1390fs
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: BRCA2: 4169del; Leu1390fs
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: BRCA2: 4169del; Leu1390Trpfs*20
PubMed Link: 36385461
Variant Present in the following documents:
  • IJC-152-1159-s010.xlsx, sheet 1
  • IJC-152-1159-s002.xlsx, sheet 2
  • IJC-152-1159-s010.xlsx, sheet 4
  • IJC-152-1159-s011.xlsx, sheet 2
  • IJC-152-1159-s006.xlsx, sheet 3
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Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers.

Communications Biology
Hakkaart, Christopher C; Pearson, John F JF; Marquart, Louise L; Dennis, Joe J; Wiggins, George A R GAR; Barnes, Daniel R DR; Robinson, Bridget A BA; Mace, Peter D PD; Aittomäki, Kristiina K; Andrulis, Irene L IL; Arun, Banu K BK; Azzollini, Jacopo J; Balmaña, Judith J; Barkardottir, Rosa B RB; Belhadj, Sami S; Berger, Lieke L; Blok, Marinus J MJ; Boonen, Susanne E SE; Borde, Julika J; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caligo, Maria A MA; Campbell, Ian I; Chung, Wendy K WK; Claes, Kathleen B M KBM; , ; , ; Collonge-Rame, Marie-Agnès MA; Cook, Jackie J; Cosgrove, Casey C; Couch, Fergus J FJ; Daly, Mary B MB; Dandiker, Sita S; Davidson, Rosemarie R; de la Hoya, Miguel M; de Putter, Robin R; Delnatte, Capucine C; Dhawan, Mallika M; Diez, Orland O; Ding, Yuan Chun YC; Domchek, Susan M SM; Donaldson, Alan A; Eason, Jacqueline J; Easton, Douglas F DF; Ehrencrona, Hans H; Engel, Christoph C; Evans, D Gareth DG; Faust, Ulrike U; Feliubadaló, Lidia L; Fostira, Florentia F; Friedman, Eitan E; Frone, Megan M; Frost, Debra D; Garber, Judy J; Gayther, Simon A SA; Gehrig, Andrea A; Gesta, Paul P; Godwin, Andrew K AK; Goldgar, David E DE; Greene, Mark H MH; Hahnen, Eric E; Hake, Christopher R CR; Hamann, Ute U; Hansen, Thomas V O TVO; Hauke, Jan J; Hentschel, Julia J; Herold, Natalie N; Honisch, Ellen E; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; , ; , ; , ; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Angel A; Jakubowska, Anna A; James, Paul A PA; Janavicius, Ramunas R; John, Esther M EM; Joseph, Vijai V; Karlan, Beth Y BY; Kemp, Zoe Z; Kirk, Judy J; Konstantopoulou, Irene I; Koudijs, Marco M; Kwong, Ava A; Laitman, Yael Y; Lalloo, Fiona F; Lasset, Christine C; Lautrup, Charlotte C; Lazaro, Conxi C; Legrand, Clémentine C; Leslie, Goska G; Lesueur, Fabienne F; Mai, Phuong L PL; Manoukian, Siranoush S; Mari, Véronique V; Martens, John W M JWM; McGuffog, Lesley L; Mebirouk, Noura N; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Moserle, Lidia L; Mouret-Fourme, Emmanuelle E; Musgrave, Hannah H; Nambot, Sophie S; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Yie, Joanne Ngeow Yuen JNY; Nguyen-Dumont, Tu T; Nikitina-Zake, Liene L; Offit, Kenneth K; Olah, Edith E; Olopade, Olufunmilayo I OI; Osorio, Ana A; Ott, Claus-Eric CE; Park, Sue K SK; Parsons, Michael T MT; Pedersen, Inge Sokilde IS; Peixoto, Ana A; Perez-Segura, Pedro P; Peterlongo, Paolo P; Pocza, Timea T; Radice, Paolo P; Ramser, Juliane J; Rantala, Johanna J; Rodriguez, Gustavo C GC; Rønlund, Karina K; Rosenberg, Efraim H EH; Rossing, Maria M; Schmutzler, Rita K RK; Shah, Payal D PD; Sharif, Saba S; Sharma, Priyanka P; Side, Lucy E LE; Simard, Jacques J; Singer, Christian F CF; Snape, Katie K; Steinemann, Doris D; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Tan, Yen Yen YY; Teixeira, Manuel R MR; Teo, Soo Hwang SH; Thomassen, Mads M; Thull, Darcy L DL; Tischkowitz, Marc M; Toland, Amanda E AE; Trainer, Alison H AH; Tripathi, Vishakha V; Tung, Nadine N; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Vega, Ana A; Viel, Alessandra A; Walker, Lisa L; Weitzel, Jeffrey N JN; Wevers, Marike R MR; Chenevix-Trench, Georgia G; Spurdle, Amanda B AB; Antoniou, Antonis C AC; Walker, Logan C LC
Publication Date: 2022-10-06

Variant appearance in text: BRCA2: 4169delT; Leu1390fs
PubMed Link: 36203093
Variant Present in the following documents:
  • 42003_2022_3978_MOESM4_ESM.xlsx, sheet 14
View BVdb publication page



Germline landscape of BRCAs by 7-site collaborations as a BRCA consortium in Turkey.

Breast (Edinburgh, Scotland)
Bisgin, Atil A; Sag, Sebnem Ozemri SO; Dogan, Muhammet E ME; Yildirim, Mahmut S MS; Gumus, Aydeniz Aydin AA; Akkus, Nejmiye N; Balasar, Ozgur O; Durmaz, Ceren D CD; Eroz, Recep R; Altiner, Sule S; Alemdar, Adem A; Aliyeva, Lamia L; Boga, Ibrahim I; Cam, Fethi S FS; Dogan, Berkcan B; Esbah, Onur O; Hanta, Abdullah A; Mujde, Cem C; Ornek, Cemre C; Ozer, Sinem S; Rencuzogullari, Cagla C; Sonmezler, Ozge O; Bozdogan, Sevcan Tug ST; Dundar, Munis M; Temel, Sehime G SG
Publication Date: 2022-10

Variant appearance in text: BRCA2: 4169delT; L1390Wfs*20
PubMed Link: 35753294
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • main.pdf
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: BRCA2: 4164delT
PubMed Link: 35165121
Variant Present in the following documents:
  • LSA-2021-01263_TableS5.xlsx, sheet 3
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: BRCA2: 4169delT; L1390fs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Intratumoral heterogeneity as a predictive biomarker in anti-PD-(L)1 therapies for non-small cell lung cancer.

Molecular Cancer
Fang, Wenfeng W; Jin, Haoxuan H; Zhou, Huaqiang H; Hong, Shaodong S; Ma, Yuxiang Y; Zhang, Yaxiong Y; Su, Xiaofan X; Chen, Longyun L; Yang, Yunpeng Y; Xu, Shengqiang S; Liao, Yuwei Y; He, Yuming Y; Zhao, Hongyun H; Huang, Yan Y; Gao, Zhibo Z; Zhang, Li L
Publication Date: 2021-02-23

Variant appearance in text: BRCA2: 4169delT; Leu1390fs
PubMed Link: 33622313
Variant Present in the following documents:
  • 12943_2021_1331_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Homologous recombination deficiency (HRD) score in germline BRCA2- versus ATM-altered prostate cancer.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Lotan, Tamara L TL; Kaur, Harsimar B HB; Salles, Daniela C DC; Murali, Sanjana S; Schaeffer, Edward M EM; Lanchbury, Jerry S JS; Isaacs, William B WB; Brown, Robert R; Richardson, Andrea L AL; Cussenot, Olivier O; Cancel-Tassin, Geraldine G; Timms, Kirsten M KM; Antonarakis, Emmanuel S ES
Publication Date: 2021-06

Variant appearance in text: BRCA2: L1390Wfs*20
PubMed Link: 33462368
Variant Present in the following documents:
  • NIHMS1655161-supplement-1.pdf
View BVdb publication page



Prostate Cancer Risk by BRCA2 Genomic Regions.

European Urology
Nyberg, Tommy T; Frost, Debra D; Barrowdale, Daniel D; Evans, D Gareth DG; Bancroft, Elizabeth E; Adlard, Julian J; Ahmed, Munaza M; Barwell, Julian J; Brady, Angela F AF; Brewer, Carole C; Cook, Jackie J; Davidson, Rosemarie R; Donaldson, Alan A; Eason, Jacqueline J; Gregory, Helen H; Henderson, Alex A; Izatt, Louise L; Kennedy, M John MJ; Miller, Claire C; Morrison, Patrick J PJ; Murray, Alex A; Ong, Kai-Ren KR; Porteous, Mary M; Pottinger, Caroline C; Rogers, Mark T MT; Side, Lucy L; Snape, Katie K; Tripathi, Vishakha V; Walker, Lisa L; Tischkowitz, Marc M; Eeles, Rosalind R; Easton, Douglas F DF; Antoniou, Antonis C AC
Publication Date: 2020-10

Variant appearance in text: BRCA2: 4169del; Leu1390fs
PubMed Link: 32532514
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study.

The Lancet. Oncology
Copson, Ellen R ER; Maishman, Tom C TC; Tapper, Will J WJ; Cutress, Ramsey I RI; Greville-Heygate, Stephanie S; Altman, Douglas G DG; Eccles, Bryony B; Gerty, Sue S; Durcan, Lorraine T LT; Jones, Louise L; Evans, D Gareth DG; Thompson, Alastair M AM; Pharoah, Paul P; Easton, Douglas F DF; Dunning, Alison M AM; Hanby, Andrew A; Lakhani, Sunil S; Eeles, Ros R; Gilbert, Fiona J FJ; Hamed, Hisham H; Hodgson, Shirley S; Simmonds, Peter P; Stanton, Louise L; Eccles, Diana M DM
Publication Date: 2018-02

Variant appearance in text: BRCA2: 4169delT; Leu1390fs
PubMed Link: 29337092
Variant Present in the following documents:
  • mmc1.pdf
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: BRCA2: 4169delT; Leu1390Trpfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencing.

Biomed Research International
Ruiz, Anna A; Llort, Gemma G; Yagüe, Carmen C; Baena, Neus N; Viñas, Marina M; Torra, Montse M; Brunet, Anna A; Seguí, Miquel A MA; Saigí, Eugeni E; Guitart, Miriam M
Publication Date: 2014

Variant appearance in text: BRCA2: 4169delT
PubMed Link: 25136594
Variant Present in the following documents:
  • 542541.f1.pdf
View BVdb publication page