• Mutation; HGNC; 1100; BRCA1; Simple; p.Gln1756Profs*74 (c.5266dupC) (5382insC); ClinVar=VCV000017677; Zygosity=Heterozygous; Note=The breast carcinoma cell line HCC1937 (Cellosaurus=CVCL_0290) is homozygous for the same mutation (PubMed=9699648; PubMed=22032724).
  

PubMed=9699648
Tomlinson G.E., Chen T.T.-L., Stastny V.A., Virmani A.K., Spillman M.A., Tonk V., Blum J.L., Schneider N.R., Wistuba I.I., Shay J.W., Minna J.D., Gazdar A.F.
Characterization of a breast cancer cell line derived from a germ-line BRCA1 mutation carrier.
Cancer Res. 58:3237-3242(1998)

PubMed=9833771; DOI=10.1002/(SICI)1097-0215(19981209)78:6<766::AID-IJC15>3.0.CO;2-L
Gazdar A.F., Kurvari V., Virmani A.K., Gollahon L.S., Sakaguchi M., Westerfield M., Kodagoda D.R., Stasny V., Cunningham H.T., Wistuba I.I., Tomlinson G.E., Tonk V., Ashfaq R., Leitch A.M., Minna J.D., Shay J.W.
Characterization of paired tumor and non-tumor cell lines established from patients with breast cancer.
Int. J. Cancer 78:766-774(1998)

PubMed=20164919; DOI=10.1038/nature08768; PMCID=PMC3145113
Bignell G.R., Greenman C.D., Davies H.R., Butler A.P., Edkins S., Andrews J.M., Buck G., Chen L., Beare D., Latimer C., Widaa S., Hinton J., Fahey C., Fu B.-Y., Swamy S., Dalgliesh G.L., Teh B.T., Deloukas P., Yang F.-T., Campbell P.J., Futreal P.A., Stratton M.R.
Signatures of mutation and selection in the cancer genome.
Nature 463:893-898(2010)

PubMed=22032724; DOI=10.1186/1755-8794-4-75; PMCID=PMC3227591
Ha K.C.H., Lalonde E., Li L.-L., Cavallone L., Natrajan R., Lambros M.B., Mitsopoulos C., Hakas J., Kozarewa I., Fenwick K., Lord C.J., Ashworth A., Vincent-Salomon A., Basik M., Reis-Filho J.S., Majewski J., Foulkes W.D.
Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines.
BMC Med. Genomics 4:75.1-75.13(2011)

PubMed=25960936; DOI=10.4161/21624011.2014.954893; PMCID=PMC4355981
Boegel S., Lower M., Bukur T., Sahin U., Castle J.C.
A catalog of HLA type, HLA expression, and neo-epitope candidates in human cancer cell lines.
OncoImmunology 3:e954893.1-e954893.12(2014)