Annotated Bibliography

1882.

“On Free Removal of Mammary Cancer, with Extirpation of the Axillary Glands as a Necessary Accompaniment”

One of the earliest literature of the surgery to remove the cancers of breast.

Banks, W. Mitchell. 1882. “On Free Removal of Mammary Cancer, with Extirpation of the Axillary Glands as a Necessary Accompaniment.” British Medical Journal 2 (1145): 1138–41. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2264904/ 

1941-1970

“The Preservation of Mammary Tumour Agent by Desiccation of the Breast Tumour Tissue of Mice”

The authors did experiment to see whether the mammary tumor agent can survive in dried breast tumor tissue for periods longer thanthose sofar recorded, and still induce a high incidence of breast cancer in susceptible mice.

Dmochowski, L. 1946. “The Preservation of Mammary Tumour Agent by Desiccation of the Breast Tumour Tissue of Mice.” British Journal of Experimental Pathology 27 (6): 391–93. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2065829/ 

“Mammary Tumour Inducing Factor and Genetic Constitution”

The authors did experiments about interaction of mammary tumor inducing or milk

factor and genetic factor in the development of breast tumors mice with breast cancer.

Dmochowski, L. 1948. “Mammary Tumour Inducing Factor and Genetic Constitution.” British Journal of Cancer 2 (2): 94–102. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2007625/ 

“The ultrastructure of human mammary fibroadenoma.”

The authors investigated the cytologic characteristics of these tumors by light and electron microscopic techniques to the study of biologic material and to investigate a better understanding of the tumor components.

Murad, T. M., M. H. Greider, and D. G. Scarpelli. 1967. “The Ultrastructure of Human Mammary Fibroadenoma.” The American Journal of Pathology 51 (5): 663–79. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1965406/ 

1971-1990

“Evidence for the origin of the unoccupied oestrogen receptor in nuclei of a human breast-cancer cell line (MCF-7)”

The authors used The MCF-7 cell line to investigate estrogen receptor (Rn) was derived from the penetration of unoccupied cytoplasmic receptor (Rc) into the nucleus, moreiver, Rc may also penetrate the nucleus without binding to estradiol.

Geier, Avraham, Michal Haimsohn, and Bruno Lunenfeld. 1982. “Evidence for the Origin of the Unoccupied Oestrogen Receptor in Nuclei of a Human Breast-Cancer Cell Line (MCF-7).” Biochemical Journal 202 (3): 687–91. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1158163/ 

“A cysteine proteinase secreted from human breast tumours is immunologically related to cathepsin B.”

The authors found out that the stable cathepsin B-like cysteine (thiol) proteinase secreted from human breast tumors may be a precursor form of lysosomal cathepsin B.

Recklies, A D, A R Poole, and J S Mort. 1982. “A Cysteine Proteinase Secreted from Human Breast Tumours Is Immunologically Related to Cathepsin B.” Biochemical Journal 207 (3): 633–36. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1153912/ 

“Linkage of early-onset familial breast cancer to chromosome 17q21”

Authors is the first to find that chromosome 17q21 is the locale of a gene for inherited susceptibility to breast cancer in families with early-onset disease. They used genetic analysis located the linkage was to be D17S74. 

Hall, J. M., M. K. Lee, B. Newman, J. E. Morrow, L. A. Anderson, B. Huey, and M. C. King. 1990. “Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21.” Science 250 (4988): 1684–89. https://doi.org/10.1126/science.2270482.

1991-2000

“Closing in on a breast cancer gene on chromosome 17q.”

This is the first paper that introduced gene BRCA 1. Linkage of early-onset familial breast cancer to 11 markers on chromosome 17q12-q21 which is very likely to include the disease gene BRCA-1. “There is no evidence for linkage heterogeneity in the families with early-onset disease. The proportion of older-onset breast cancer attributable to BRCA 1 is not yet determinable, because both inherited and sporadic cases occur in older-onset families.”

Hall, J M, L Friedman, C Guenther, M K Lee, J L Weber, D M Black, and M C King. 1992. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682570/ 

“Closing in on a Breast Cancer Gene on Chromosome 17q.” American Journal of Human Genetics 50 (6): 1235–42.

“Linkage to markers for the chromosome region 17q12-q21 in 13 Dutch breast cancer kindreds.”

BRCA 1 is the gene on the chromosome region 17q12-q21 in 13 Dutch breast cancer kindreds. BRCA 1 is associated with predisposition to early-onset familial breast cancer. The location of BRCA 1 was confirmed that maps proximal to D17S579.

Devilee, P., R. S. Cornelis, A. Bootsma, A. Bardoel, M. van Vliet, I. van Leeuwen, F. J. Cletor, et al. 1993. “Linkage to Markers for the Chromosome Region 17q12-Q21 in 13 Dutch Breast Cancer Kindreds.” American Journal of Human Genetics 52 (4): 730–35. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1682089/ 

“A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1”

BRCA 1 gene expressed in breast and ovary tissues, and encodes a predicted protein of 1863 amino acids. By identifying the BRCA 1’s gene location, they confirmed that BRCA 1 protein has a zinc finger motif in its terminal region.

Miki, Y., J. Swensen, D. Shattuck-Eidens, P. A. Futreal, K. Harshman, S. Tavtigian, Q. Liu, et al. 1994. “A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1.” Science 266 (5182): 66–71. https://doi.org/10.1126/science.7545954.

“Identification of the breast cancer susceptibility gene BRCA2”

The authors first time identified the breast cancer susceptibility gene, BRCA2, and its location on chromosome 13q12-q13.

“Identification of the Breast Cancer Susceptibility Gene BRCA2 | Nature.” n.d. Accessed March 12, 2019. https://www.nature.com/articles/378789a0.

“High incidence of loss of heterozygosity at chromosome 17p13 in breast tumors from BRCA2 mutation carriers”

There were 27 breast cancer tumors with 999del5 BRCA2 mutation were analyzed. There is a high frequency of loss if heterozygosity (LOH) at chromosome 17p13 which suggests that one or more genes from this region are involved in the development of BRCA2-induced breast cancer.

Eiriksdottir, Gudny, Rosa B. Barkardottir, Bjarni A. Agnarsson, Gudrun Johannesdottir, Kristrun Olafsdottir, Valgardur Egilsson, and Sigurdur Ingvarsson. 1998. “High Incidence of Loss of Heterozygosity at Chromosome 17p13 in Breast Tumours from BRCA2 Mutation Carriers.” Oncogene 16 (1): 21–26. https://doi.org/10.1038/sj.onc.1201509.

“Regulation of BRCA1 and BRCA2 expression in human breast cancer cells by DNA-damaging agents”

The author investigated that in MCF-7 human breast cancer cells, the levels of BRCA 1 and BRCA 2 mRNA decreased when the cells were treated with adriamycin, camptothecin and UV radiation. Adriamycin and camptothecin are both cytotoxic agents. The induced reduction of BRCA 1/2 mRNA was correlated with p53 functional status. BRCA 1/2 may involve in responding to DNA-damaging agents.

“Regulation of BRCA1 and BRCA2 Expression in Human Breast Cancer Cells by DNA-Damaging Agents | Oncogene.” n.d. Accessed March 12, 2019. https://www.nature.com/articles/1201752.

“The BRCA2 is a histone acetyltransferase”

BRCA2 has a role in the regulation of gene expression. The authors first reported the amino- terminal region of BRCA2 has intrinsic HAT activity from which it may be inferred that BRCA2 joins the above list of transcriptional activators/factors that possess HAT activity. This intrinsic BRCA2-HAT activity may play a significant role in the tumor suppressor function of BRCA2.

Siddique, Habibur, Jian-Ping Zou, Veena N. Rao, and E. Shyam P. Reddy. 1998. “The BRCA2 Is a Histone Acetyltransferase.” Oncogene 16 (17): 2283–85. https://doi.org/10.1038/sj.onc.1202003.

Gamma-rays-induced death of human cells carrying mutations of BRCA1 or BRCA2”

Since BRCA 1 and 2 may correlated with responding DNA-damage. The authors conducted experiment to test responses of various BRCA 1 and 2 genotypes protein exposing to gamma-rays. By missing functional BRCA 1 and 2, there was relaxation of cell cycle checkpoint, production of micronuclei, and a loss of proliferative capacity.

Foray, Nicolas, Voahangy Randrianarison, Didier Marot, Michel Perricaudet, Gilbert Lenoir, and Jean Feunteun. 1999. “Gamma-Rays-Induced Death of Human Cells Carrying Mutations of BRCA1 or BRCA2.” Oncogene 18 (51): 7334–42. https://doi.org/10.1038/sj.onc.1203165.

“BRCA1 Inhibition of Estrogen Receptor Signaling in Transfected Cells”

The author first time figured out why BRCA1 mutation associates with breast, ovarian, and prostatic cancers. BRCA1 inhibited signaling by the ligand-activated estrogen receptor (ER-􏰈) through the estrogen-responsive enhancer element and to block the transcriptional activation function AF-2 of ER-􏰈alpha.

Fan, S., J.-A. Wang, R. Yuan, Y. Ma, Q. Meng, M. R. Erdos, R. G. Pestell, et al. 1999. “BRCA1 Inhibition of Estrogen Receptor Signaling in Transfected Cells.” Science 284 (5418): 1354–56. https://doi.org/10.1126/science.284.5418.1354.

“Role of the tumor suppressor gene Brca1 in genetic stability and mammary gland tumor formation”

BRCA1 mutation doesn’t result in tumor formation. BRCA1 causes genetic instability, which leads to high risk of malignant transformation.

Deng, Chu-Xia, and Frank Scott. 2000. “Role of the Tumor Suppressor Gene Brca1 in Genetic Stability and Mammary Gland Tumor Formation.” Oncogene 19 (8): 1059–64. https://doi.org/10.1038/sj.onc.1203269.

2001-2010

“Role of direct interaction in BRCA1 inhibition of estrogen receptor activity”

BRCA1 blocked the expression of two endogenous estrogen-regulated gene products in human breast cancer cells: pS2 and cathepsin D. Mutations of BRCA1 reduce its ability to inhibit ER-α (estrogen receptor) activity and that domains within the amino- and carboxyl-termini of the BRCA1 protein are required for the inhibition. Their findings suggest that the amino-terminus of BRCA1 interacts with ER-α, while the carboxyl-terminus of BRCA1 may function as a transcriptional repression domain.

Fan, Saijun, Yong Xian Ma, Chenguang Wang, Ren-qi Yuan, Qinghui Meng, Ji-An Wang, Michael Erdos, et al. 2001. “Role of Direct Interaction in BRCA1 Inhibition of Estrogen Receptor Activity.” Oncogene 20 (1): 77–87. https://doi.org/10.1038/sj.onc.1204073.

“Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2”

The lifetime risk of breast cancer among female BRCA1 and BRCA2 mutation carriers was 82%. The risk is increasing.

King, Mary-Claire, Joan H. Marks, and Jessica B. Mandell. 2003. “Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2.” Science 302 (5645): 643–46. https://doi.org/10.1126/science.1088759.

“Targeting the DNA repair defect in BRCA mutant cells as a therapeutic strategy”

The authors showed that BRCA1 and BRCA2 dysfunction unexpectedly and profoundly sensitizes cells to the inhibition of PARP enzymatic activity, resulting in chromosomal instability, cell cycle arrest and subsequent apoptosis. Inhibition of PARP may allow the design of specific less toxic therapies for breast cancer.

Farmer, Hannah, Nuala McCabe, Christopher J. Lord, Andrew N. J. Tutt, Damian A. Johnson, Tobias B. Richardson, Manuela Santarosa, et al. 2005. “Targeting the DNA Repair Defect in BRCA Mutant Cells as a Therapeutic Strategy.” Nature 434 (7035): 917–21. https://doi.org/10.1038/nature03445.

“Specific killing of BRCA2-deficient tumours with inhibitors of poly(ADP-ribose) polymerase”

The authors discovered that BRCA1 and BRCA2 mutations are spectacularly sensitive to inhibition of the enzyme PARP, which suggests a new, low toxicity, approach to the treatment of women with breast cancers. PARP inhibitors induce cytotoxic PARP-DNA complexes and the methods to detect such complexes was provided.

Bryant, Helen E., Niklas Schultz, Huw D. Thomas, Kayan M. Parker, Dan Flower, Elena Lopez, Suzanne Kyle, Mark Meuth, Nicola J. Curtin, and Thomas Helleday. 2005. “Specific Killing of BRCA2-Deficient Tumours with Inhibitors of Poly(ADP-Ribose) Polymerase.” Nature 434 (7035): 913–17. https://doi.org/10.1038/nature03443.

“Inhibition of Poly(ADP-Ribose) Polymerase in Tumors form BRCA Mutation Carriers”

Olaparib is a a novel, potent, orally active PARP inhibitor, which inhibits PARP, and has antitumor activity in cancer associated with the BRCA1 or BRCA2 mutation. Olaparib was provided to the cancer patients with BRCA mutations.

Fong, Peter C., David S. Boss, Timothy A. Yap, Andrew Tutt, Peijun Wu, Marja Mergui-Roelvink, Peter Mortimer, et al. 2009. “Inhibition of Poly(ADP-Ribose) Polymerase in Tumors from BRCA Mutation Carriers.” The New England Journal of Medicine 361 (2): 123–34. https://doi.org/10.1056/NEJMoa0900212.

2011-presents

“Differential trapping of PARP1 and PARP2 by clinical PARP inhibitors”

The authors reported that PARP inhibitors trapped the PARP1 and PARP2 enzymes at damaged DNA.

Murai, Junko, Shar-yin N. Huang, Benu Brata Das, Amelie Renaud, Yiping Zhang, James H. Doroshow, Jiuping Ji, Shunichi Takeda, and Yves Pommier. 2012. “Differential Trapping of PARP1 and PARP2 by Clinical PARP Inhibitors.” Cancer Research 72 (21): 5588–99. https://doi.org/10.1158/0008-5472.CAN-12-2753.

“Combined immune checkpoint blockade as a therapeutic strategy for BRCA1-mutated breast cancer”

Patients with BRCA1 and BRCA2 mutations show high response rates to PARP inhibitors and platinum agents. BRCA1-mutated TNBCs are immunogenic and actively engaged by the immune system.

Nolan, Emma, Peter Savas, Antonia N. Policheni, Phillip K. Darcy, François Vaillant, Christopher P. Mintoff, Sathana Dushyanthen, et al. 2017. “Combined Immune Checkpoint Blockade as a Therapeutic Strategy for BRCA1-Mutated Breast Cancer.” Science Translational Medicine 9 (393). https://doi.org/10.1126/scitranslmed.aal4922.

“PARP inhibitor increases chemosensitivity by upregulating miR-664b-5p in BRCA1-mutated triple-negative breast cancer”

MicroRNAs (miRNAs) function in regulating cell proliferation, differentiation, and participate in the regulation of chemotherapy resistance and sensitivity in human breast cancers. miR-664b-5p is a screened miRNA, the expression of miR-664b-5p was increased after adding a PARP inhibitor, olaparib. CCNE2 was identified as a novel functional target of miR-664b-5p, and both

CCNE2 knockdown and miR-664b-5p overexpression significantly increased the chemosensitivity of BRCA1-mutated TNBC cells. 

Song, Wei, Lin Tang, Yumei Xu, Jing Xu, Wenwen Zhang, Hui Xie, Shui Wang, and Xiaoxiang Guan. 2017. “PARP Inhibitor Increases Chemosensitivity by Upregulating MiR-664b-5p in BRCA1-Mutated Triple-Negative Breast Cancer.” Scientific Reports 7 (February). https://doi.org/10.1038/srep42319.

“Mechanism of tandem duplication formation in BRCA1-mutant cells.”

Microhomology-mediated tandem duplications are abundant in the genomes of BRCA1 mutantation breast cancer. The authors found BRCA1 suppresses the formation of tandem duplications at a site-specific chromosomal replication fork barrier imposed by the binding of Tus proteins to an array of Ter sites. This tandem duplications may be a general signature of BRCA1-deficient breast cancer.

Willis, Nicholas A., Richard L. Frock, Francesca Menghi, Erin E. Duffey, Arvind Panday, Virginia Camacho, E. Paul Hasty, Edison T. Liu, Frederick W. Alt, and Ralph Scully. 2017. “Mechanism of Tandem Duplication Formation in BRCA1-Mutant Cells.” Nature 551 (7682): 590–95. https://doi.org/10.1038/nature24477.

“Oophorectomy and risk of contralateral breast cancer among BRCA1 and BRCA2 mutation carriers”

The impact of oophorectomy on the risk of developing breast cancer is unclear. After an average of 9.8 years of follow-up of BRCA1 and BRCA2 mutation carriers with breast cancer, there were 179 (7.8%) contralateral breast cancers diagnosed. Authors found that that oophorectomy has little impact on the risk of contralateral breast cancer.

Kotsopoulos, Joanne, Jan Lubinski, Henry T. Lynch, Nadine Tung, Susan Armel, Leigha Senter, Christian F. Singer, et al. 2019. “Oophorectomy and Risk of Contralateral Breast Cancer among BRCA1 and BRCA2 Mutation Carriers.” Breast Cancer Research and Treatment, February. https://doi.org/10.1007/s10549-019-05162-7.

“Comparative oncogenomics identifies combinations of driver genes and drug targets in BRCA1-mutated breast cancer” 

Since TNBC is primarily a DNA copy-number driven disease, containing large numbers of candidate driver genes. The authors tested the candidates that have validation are Myc, Met, Pten and Rb1 as bona fide drivers in BRCA1-associated mammary tumorigenesis with their genetically engineered mouse models (GEMMs) with BRCA1-deficient breast cancer.

Annunziato, Stefano, Julian R. de Ruiter, Linda Henneman, Chiara S. Brambillasca, Catrin Lutz, François Vaillant, Federica Ferrante, et al. 2019. “Comparative Oncogenomics Identifies Combinations of Driver Genes and Drug Targets in BRCA1-Mutated Breast Cancer.” Nature Communications 10 (January). https://doi.org/10.1038/s41467-019-08301-2.

“Quantifying BRCA1 and BRCA2 mRNA Isoform Expression Levels in Single Cells”

The authors found that BRCA1 and BRCA2 mRNA is expressed stochastically, which means the previous reported results using RT-PCR may have been influenced by the number of cells with BRCA1/2 mRNA expression and may not represent an elevation of constitutive mRNA expression.

Lattimore, Vanessa L., John F. Pearson, Arthur E. Morley-Bunker, kConFab Investigators, Amanda B. Spurdle, Bridget A. Robinson, Margaret J. Currie, and Logan C. Walker. 2019. “Quantifying BRCA1 and BRCA2 MRNA Isoform Expression Levels in Single Cells.” International Journal of Molecular Sciences 20 (3). https://doi.org/10.3390/ijms20030693.

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