BRCA1 c.4063_4065del ;(p.N1355del)

Variant ID: 17-41243482-GATT-G

NM_007294.3(BRCA1):c.4063_4065del;(p.N1355del)

This variant was identified in 10 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: Asn1355del
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: BRCA1: 4063_4065del; Asn1355del
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.

Bmc Medical Genomics
Adam, Felicia F; Fluri, Muriel M; Scherz, Amina A; Rabaglio, Manuela M
Publication Date: 2023-01-16

Variant appearance in text: BRCA1: 4063_4065delAAT
PubMed Link: 36647026
Variant Present in the following documents:
  • 12920_2023_1437_MOESM3_ESM.xlsx, sheet 1
  • 12920_2023_1437_MOESM2_ESM.xlsx, sheet 1
  • 12920_2023_1437_MOESM2_ESM.xlsx, sheet 2
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: BRCA1: 4063_4065delAAT; N1355del
PubMed Link: 35753294
Variant Present in the following documents:
  • mmc1.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: 4063_4065delAAT; Asn1355del
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Prevalence and Spectrum of Germline BRCA1 and BRCA2 Variants of Uncertain Significance in Breast/Ovarian Cancer: Mysterious Signals From the Genome.

Frontiers In Oncology
Fanale, Daniele D; Fiorino, Alessia A; Incorvaia, Lorena L; Dimino, Alessandra A; Filorizzo, Clarissa C; Bono, Marco M; Cancelliere, Daniela D; Calò, Valentina V; Brando, Chiara C; Corsini, Lidia Rita LR; Sciacchitano, Roberta R; Magrin, Luigi L; Pivetti, Alessia A; Pedone, Erika E; Madonia, Giorgio G; Cucinella, Alessandra A; Badalamenti, Giuseppe G; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2021

Variant appearance in text: BRCA1: 4063_4065delAAT; Asn1355del
PubMed Link: 34178674
Variant Present in the following documents:
  • Main text
  • fonc-11-682445.pdf
View BVdb publication page



Hereditary Breast and Ovarian Cancer in Families from Southern Italy (Sicily)-Prevalence and Geographic Distribution of Pathogenic Variants in BRCA1/2 Genes.

Cancers
Incorvaia, Lorena L; Fanale, Daniele D; Badalamenti, Giuseppe G; Bono, Marco M; Calò, Valentina V; Cancelliere, Daniela D; Castiglia, Marta M; Fiorino, Alessia A; Pivetti, Alessia A; Barraco, Nadia N; Cutaia, Sofia S; Russo, Antonio A; Bazan, Viviana V
Publication Date: 2020-05-05

Variant appearance in text: BRCA1: 4063_4065delAAT; Asn1355del
PubMed Link: 32380732
Variant Present in the following documents:
  • cancers-12-01158-s001.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: 4063_4065delAAT
PubMed Link: 31853058
Variant Present in the following documents:
  • 41436_2019_729_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Genes
Urbina-Jara, Laura Keren LK; Rojas-Martinez, Augusto A; Martinez-Ledesma, Emmanuel E; Aguilar, Dione D; Villarreal-Garza, Cynthia C; Ortiz-Lopez, Rocio R
Publication Date: 2019-10-10

Variant appearance in text: BRCA1: 4063_4065delAAT
PubMed Link: 31658756
Variant Present in the following documents:
  • Main text
  • genes-10-00786.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: BRCA1: 4063_4065delAAT; Asn1355del
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page