BRCA1 and BRCA2: 1994 and beyond

Molecular portraits of human breast tumours

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Gene expression profiling predicts clinical outcome of breast cancer

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A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1

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Repeated observation of breast tumor subtypes in independent gene expression data sets

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Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 Studies

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Identification of the breast cancer susceptibility gene BRCA2

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

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Mutations in the p53 tumor suppressor gene: clues to cancer etiology and molecular pathogenesis.

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Linkage of Early-Onset Familial Breast Cancer to Chromosome 17q21

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The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews.

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BRCA1 and BRCA2 germline mutation analysis from a cohort of 1267 patients at high risk for breast cancer in Brazil

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Variants in ATRIP are associated with breast cancer susceptibility in the Polish population and UK Biobank

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Pathogenic Variants in Cancer Susceptibility Genes Predispose to Ductal Carcinoma In Situ of the Breast

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MDC1 is ubiquitylated on its tandem BRCT domain and directly binds RAP80 in a UBC13-dependent manner

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Exploring miRNA-Associated Signatures with Diagnostic Relevance in Glioblastoma Multiforme and Breast Cancer Patients

LeBlanc, V., & Morin, P. (2015) · Journal of Clinical Medicine · doi:10.3390/jcm4081612 · Cited by 13

BRCA2 Deletion Induces Alternative Lengthening of Telomeres in Telomerase Positive Colon Cancer Cells

Pompili, L., Maresca, C., Stritto, A. D., Biroccio, A., & Salvati, E. (2019) · Genes · doi:10.3390/genes10090697 · Cited by 16

Yeast-based assays for the functional characterization of cancer-associated variants of human DNA repair genes

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BMI ‐1 promotes breast cancer proliferation and metastasis through different mechanisms in different subtypes

Liu, J., Jiang, Y., Huang, H. W., Xu, J., Wu, Y., Wang, Q., Zhu, Y., Zheng, B. J., Shen, C., Qian, W., et al. (2022) · Cancer Science · doi:10.1111/cas.15623 · Cited by 14

Role of multifunctional transcription factor TFII-I and putative tumour suppressor DBC1 in cell cycle and DNA double strand damage repair

Tanikawa, M., Wada‐Hiraike, O., Yoshizawa-Sugata, N., Shirane, A., Hirano, M., Hiraike, H., Miyamoto, Y., Sone, K., Ikeda, Y., Kashiyama, T., et al. (2013) · British Journal of Cancer · doi:10.1038/bjc.2013.532 · Cited by 14

BRCA1 functions as a novel transcriptional cofactor in HIV-1 infection

Guendel, I., Meltzer, B., Baer, A., Dever, S. M., Valerie, K. C., Guo, J., Wu, Y., & Kehn‐Hall, K. (2015) · Virology Journal · doi:10.1186/s12985-015-0266-8 · Cited by 16

Screening for BRCA1 and BRCA2 mutations in breast cancer patients from mexico: the public health perspective

Narod, S. A. (2009) · Salud Pública de México · doi:10.1590/s0036-36342009000800009 · Cited by 14

Uninterrupted Sedentary Behavior Downregulates BRCA1 Gene Expression

Pettapiece-Phillips, R., Kotlyar, M., Chehade, R., Salmena, L., Narod, S. A., Akbari, M. R., Jurišica, I., & Kotsopoulos, J. (2015) · Cancer Prevention Research · doi:10.1158/1940-6207.capr-15-0291 · Cited by 14

A high frequency of PALB2 mutations in Jamaican patients with breast cancer

Lerner‐Ellis, J. P., Donenberg, T. R., Ahmed, H., George, S. H. L., Wharfe, G., Chin, S. N., Lowe, D., Royer, R., Zhang, S., Narod, S. A., et al. (2017) · Breast Cancer Research and Treatment · doi:10.1007/s10549-017-4148-1 · Cited by 14

IGFBP1 and IGFBP3 polymorphisms predict circulating IGFBP-3 levels among women from high-risk breast cancer families

Rosendahl, A. H., Hietala, M., Henningson, M., Olsson, H. L., & Jernström, H. (2010) · Breast Cancer Research and Treatment · doi:10.1007/s10549-010-1277-1 · Cited by 14

Clinical Implications of the Breast Cancer Susceptibility Genes BRCA1 and BRCA2

Narod, S. A. (2005) · Women s Health · doi:10.1517/17455057.1.1.027 · Cited by 14

The mode of action of organic carcinogens on cellular structures

Luch, A. (2006) · Birkhäuser-Verlag eBooks · doi:10.1007/3-7643-7378-4_4 · Cited by 14

Olaparib Induces RPL5/RPL11-Dependent p53 Activation via Nucleolar Stress

Han, T., Tong, J., Wang, M., Gan, Y., Gao, B., Chen, J., Liu, Y., Hao, Q., & Zhou, X. Y. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.821366 · Cited by 13

Public neoantigens in breast cancer immunotherapy (Review)

Sueangoen, N., Thuwajit, P., Yenchitsomanus, P., & Thuwajit, C. (2024) · International Journal of Molecular Medicine · doi:10.3892/ijmm.2024.5388 · Cited by 13

NRF-mediated autophagy and UPR: Exploring new avenues to overcome cancer chemo-resistance

Dastghaib, S., Shafiee, S. M., Ramezani, F., Ashtari, N., Tabasi, F., Saffari‐Chaleshtori, J., Siri, M., Vakili, O., Igder, S., Zamani, M., et al. (2024) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2024.177210 · Cited by 18

PI 3 Kinase Related Kinases-Independent Proteolysis of BRCA1 Regulates Rad51 Recruitment during Genotoxic Stress in Human Cells

Hammond-Martel, I., Pak, H., Yu, H., Rouget, R., Horwitz, A. A., Parvin, J. D., Drobetsky, E. A., & Affar, E. B. (2010) · PLoS ONE · doi:10.1371/journal.pone.0014027 · Cited by 13

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants

Lim, B. W. X., Li, N., Mahale, S., McInerny, S., Zethoven, M., Rowley, S. M., Huynh, J., Wang, T., Lee, J. E. A., Friedman, M., et al. (2022) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djac196 · Cited by 13

First description of a sporadic breast cancer in a woman with BRCA1 germline mutation

Curtit, E., Benhamo, V., Gruel, N., Popova, T., Manié, E., Cottu, P., Mariani, O., Stoppa-Lyonnet, D., Pivot, X., Stern, M., et al. (2015) · OncoTarget · doi:10.18632/oncotarget.5348 · Cited by 10

Hereditary Breast-Ovarian Cancer Syndrome in Russia

Соколенко, А. П., Iyevleva, A. G., Mitiushkina, N. V., Suspitsin, E. N., Преображенская, Е. В., Kuligina, E. S., Voskresenskiy, D. A., Lobeiko, O. S., Krylova, N. Y., Gorodnova, T. V., et al. (2010) · Acta Naturae · doi:10.32607/20758251-2010-2-4-31-35 · Cited by 13

Two-gene signature improves the discriminatory power of IASLC/ATS/ERS classification to predict the survival of patients with early-stage lung adenocarcinoma

Gao, W., Hou, L., Yang, Y. P., Xie, H., Yang, Y., Li, Z., Zhao, H., Sun, Y., & Su, B. (2016) · OncoTargets and Therapy · doi:10.2147/ott.s107272 · Cited by 13

Estrogen induces RAD51C expression and localization to sites of DNA damage

Alayev, A., Salamon, R. S., Manna, S., Schwartz, N. S., Berman, A. Y., & Holz, M. K. (2016) · Cell Cycle · doi:10.1080/15384101.2016.1241927 · Cited by 13

The characteristics of early-stage research into human genes are substantially different from subsequent research

Stoeger, T., & Amaral, L. A. N. (2022) · PLoS Biology · doi:10.1371/journal.pbio.3001520 · Cited by 10

On the dynamics of breast tumor development in women carrying germline BRCA1 and BRCA2 mutations

Simon, R. M., & Zhang, X. (2007) · International Journal of Cancer · doi:10.1002/ijc.23323 · Cited by 13

CYP17 genotype is associated with short menstrual cycles, early oral contraceptive use and BRCA mutation status in young healthy women

Henningson, M., Johansson, U., Borg, Å., Olsson, H. L., & Jernström, H. (2007) · Molecular Human Reproduction · doi:10.1093/molehr/gam004 · Cited by 13

Hereditary Cancer Syndromes

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Advances in isolation, composition, properties and applications of milk fat globule membrane proteins: A review

Xie, M., Yuan, W., Tian, Z., Tan, L., Hui, Z., Yang, Q., Zhou, L., Wu, S., Luo, J., & Fan, X. (2025) · Food Research International · doi:10.1016/j.foodres.2025.117422 · Cited by 12

Multicolor Biosensors for Early Diagnosis of Diseases

Aghili, S., Abbariki, N., Daneshgar, H., Edrisi, M., & Rabiee, N. (2025) · Analytical Chemistry · doi:10.1021/acs.analchem.5c04693 · Cited by 13

Single‐nucleotide polymorphisms in the p53 pathway genes modify cancer risk in BRCA1 and BRCA2 carriers of Jewish‐Ashkenazi descent

Yarden, R. I., Friedman, E., Metsuyanim, S., Olender, T., Ben‐Asher, E., & Papa, M. Z. (2010) · Molecular Carcinogenesis · doi:10.1002/mc.20618 · Cited by 13

Early therapy assessment of combined anti-DR5 antibody and carboplatin in triple-negative breast cancer xenografts in mice using diffusion-weighted imaging and1H MR spectroscopy

Zhai, G., Kim, H., Sarver, D. B., Samuel, S. L., Whitworth, L., Umphrey, H. R., Oelschlager, D. K., Beasley, T. M., & Zinn, K. R. (2013) · Journal of Magnetic Resonance Imaging · doi:10.1002/jmri.24319 · Cited by 12

Metastatic and pathophysiological characteristics of breast cancer with emphasis on hereditary factors

Faramarzi, A., Jahromi, M. G., Ashourzadeh, S., & Jalilian, N. (2021) · doi:10.22034/cajmpsi.2021.03.01 · Cited by 12

Current Systemic Treatments for the Hereditary Cancer Syndromes: Drug Development in Light of Genomic Defects

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BRCA1 Breast Cancer Risk Is Modified by CYP19 Polymorphisms in Ashkenazi Jews

Raskin, L., Lejbkowicz, F., Barnett‐Griness, O., Dishon, S., Almog, R., & Rennert, G. (2009) · Cancer Epidemiology Biomarkers & Prevention · doi:10.1158/1055-9965.epi-09-0060 · Cited by 12

Loss of BRCA1-A Complex Function in RAP80 Null Tumor Cells

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Evolutionary genomics of human intellectual disability

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The HOXB13 p.Gly84Glu mutation is not associated with the risk of breast cancer

Akbari, M. R., Kluźniak, W., Rodin, R., Li, S., Wokołorczyk, D., Royer, R., Kashyap, A., Menkiszak, J., Lubiński, J., Narod, S. A., et al. (2012) · Breast Cancer Research and Treatment · doi:10.1007/s10549-012-2295-y · Cited by 12

Reduced BRCA1 transcript levels in freshly isolated blood leukocytes from BRCA1 mutation carriers is mutation specific

Chehade, R., Pettapiece-Phillips, R., Salmena, L., Kotlyar, M., Jurišica, I., Narod, S. A., Akbari, M. R., & Kotsopoulos, J. (2016) · Breast Cancer Research · doi:10.1186/s13058-016-0739-8 · Cited by 12

Effects of Breast Cancer Genes 1 and 2 on Cardiovascular Diseases

Zhou, S., Jin, J., Wang, J., Zhang, Z., Huang, S., Zheng, Y., & Cai, L. (2019) · Current Problems in Cardiology · doi:10.1016/j.cpcardiol.2019.04.001 · Cited by 13

A Review on Poly (ADP-ribose) Polymerase (PARP) Inhibitors and Synthetic Methodologies

Li, Y., Liu, C., & Rao, G. (2020) · Current Medicinal Chemistry · doi:10.2174/0929867327666200312113011 · Cited by 12

Identification and characterization of novel potentially oncogenic mutations in the human BAF57 gene in a breast cancer patient

Villaronga, M. Á., López-Mateo, I., Markert, L., Espinosa, E., Vara, J. Á. F., & Belandia, B. (2011) · Breast Cancer Research and Treatment · doi:10.1007/s10549-011-1492-4 · Cited by 12

In silico screening and identifying phytoconstituents of Withania somnifera as potent inhibitors of BRCA1 mutants: A therapeutic against breast cancer

Panda, S. M., Nandeshwar, N., & Tripathy, U. (2024) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2024.136977 · Cited by 11

Functional assessment of intrinsic disorder central domains of BRCA1

Yadav, L. R., Rai, S., Hosur, M. V., & Varma, A. K. (2015) · Journal of Biomolecular Structure and Dynamics · doi:10.1080/07391102.2014.1000973 · Cited by 10

[Genetic predisposition for breast cancer: BRCA1 and BRCA2 genes].

Narod, S. A., & Rodríguez, A. A. (2011) · PubMed · Cited by 11

PROTACs: Novel approach for cancer breakdown by breaking proteins

Memon, H., & Patel, B. M. (2022) · Life Sciences · doi:10.1016/j.lfs.2022.120577 · Cited by 11

BRCA and Pancreatic Cancer

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Hereditary breast and ovarian cancer.

Lyubchenko, L. N., Батенева, Е. И., Abramov, I. S., Emelyanova, M., Budik, Y. A., Tyulyandina, A. S., Крохина, О. В., Воротников, И. К., Sobolevskyj, V. A., Nasedkina, T. V., et al. (2015) · Malignant tumours · doi:10.18027/2224-5057-2013-2-53-61 · Cited by 11

BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population

Nielsen, H. R., Nilbert, M. C., Petersen, J., Ladelund, S., Thomassen, M., Pedersen, I. S., Hansen, T. V. O., Skytte, A., Borg, Å., & Therkildsen, C. (2016) · Familial Cancer · doi:10.1007/s10689-016-9875-7 · Cited by 11

Practical consensus recommendations on management of triple-negative metastatic breast cancer

Rangarao, R., Smruti, B. K., Singh, K., Gupta, A., Batra, S., Choudhary, R. K., Gupta, A., Sahani, S., Kabra, V., Parikh, P. M., et al. (2018) · South Asian Journal of Cancer · doi:10.4103/sajc.sajc_118_18 · Cited by 11

Targeted sequencing to discover germline variants in the BRCA1 and BRCA2 genes in a Russian population and their association with breast cancer risk

Solodskikh, S. A., Panevina, A. V., Vladimirovna, G. M., Gureev, A. P., Serzhantova, O. V., Mikhailov, A. A., Maslov, A. Y., & Popov, V. N. (2018) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/j.mrfmmm.2018.12.005 · Cited by 11

Breast Radiation Therapy–Related Treatment Outcomes in Patients With or Without Germline Mutations on Multigene Panel Testing

Chapman, B. V., Liu, D., Shen, Y., Olamigoke, O. O., Lakomy, D. S., Gutierrez‐Barrera, A. M., Stecklein, S. R., Sawakuchi, G. O., Bright, S. J., Bedrosian, I., et al. (2021) · International Journal of Radiation Oncology*Biology*Physics · doi:10.1016/j.ijrobp.2021.09.026 · Cited by 11

A Mammary-Specific, Long-range Deletion on Mouse Chromosome 11 Accelerates Brca1-Associated Mammary Tumorigenesis

Triplett, A. A., Montagna, C., & Wagner, K. (2008) · Neoplasia · doi:10.1593/neo.08524 · Cited by 11

The role of BACH1 , BARD1 and TOPBP1 genes in familial breast cancer

Karppinen, S. (2009) · Cited by 11

Poly (ADP-ribose) polymerase (PARP) inhibitors approved for the treatment of cancer

Roskoski, R. J. (2025) · Pharmacological Research · doi:10.1016/j.phrs.2025.108058 · Cited by 10

BRCA1 and BRCA2 mutations testing in prostate cancer: Detection in formalin fixed paraffin embedded (FFPE) and blood samples

Zannini, G., Facchini, G., SIO, M. D., Vita, F. D., Pagliuca, F., Franco, R., & Marino, F. Z. (2025) · Pathology - Research and Practice · doi:10.1016/j.prp.2024.155803 · Cited by 10

New single nucleotide polymorphisms (SNPs) in homologous recombination repair genes detected by microarray analysis in Polish breast cancer patients

Romanowicz, H., Strapagiel, D., Słomka, M., Sobalska‐Kwapis, M., Kępka, E., Siewierska-Górska, A., Zadrożny, M., Bieńkiewicz, J., & Smolarz, B. (2016) · Clinical and Experimental Medicine · doi:10.1007/s10238-016-0441-2 · Cited by 10

A decade of approved first-in-class small molecule orphan drugs: Achievements, challenges and perspectives

Gu, J., Wu, Q., Zhang, Q., You, Q., & Wang, L. (2022) · European Journal of Medicinal Chemistry · doi:10.1016/j.ejmech.2022.114742 · Cited by 11

Deep Learning Approaches with Digital Mammography for Evaluating Breast Cancer Risk, a Narrative Review

Siddique, M., Liu, M. Z., Duong, P., Jambawalikar, S., & Ha, R. S. (2023) · Tomography · doi:10.3390/tomography9030091 · Cited by 10

Early Occurrence of Angiosarcoma in a Woman With a BRCA2 Gene Variation of Unknown Significance Treated With Breast-Conserving Therapy for Bilateral Ductal Carcinoma: A Case Report

Parvez, E., Popović, S., Elavathil, L., Okawara, G. S., & Hodgson, N. (2015) · Clinical Breast Cancer · doi:10.1016/j.clbc.2015.06.011 · Cited by 10

Breast Cancer Prevention

Thompson, P. A., López, A. M., & Stopeck, A. (2005) · Springer eBooks · doi:10.1007/3-540-26337-3_12 · Cited by 10

Cáncer de mama y ovario hereditario: prevención primaria y secundaria en mujeres portadoras de mutación en los genes BRCA1 y BRCA2

Llort, G., Peris, M., & Blanco, I. (2007) · Medicina Clínica · doi:10.1157/13100569 · Cited by 10

High follicular phase luteinizing hormone levels in young healthy BRCA1 mutation carriers: Implications for breast and ovarian cancer risk

Jernström, H., Borg, Å., & Olsson, H. L. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2005.06.007 · Cited by 10

Mutation analysis of the gene encoding the PALB2-binding protein MRG15 in BRCA1/2-negative breast cancer families

Frio, T. R., Haanpää, M. K., Pouchet, C., Pylkäs, K., Vuorela, M., Tischkowitz, M. D., Winqvist, R., & Foulkes, W. D. (2010) · Journal of Human Genetics · doi:10.1038/jhg.2010.112 · Cited by 10

Mutation analysis of the PALB2 cancer predisposition gene in familial melanoma

Sabbaghian, N., Kyle, R., Hao, A., Hogg, D., & Tischkowitz, M. D. (2010) · Familial Cancer · doi:10.1007/s10689-010-9405-y · Cited by 10

Establishment of three human breast epithelial cell lines derived from carriers of the 999del5 BRCA2 icelandic founder mutation

Fridriksdottir, A. J., Guðjónsson, Þ., Halldorsson, T. I., Björnsson, J., Steinarsdóttir, M., Jóhannsson, Ó. Þ., & Ogmundsdottir, H. M. (2005) · In Vitro Cellular & Developmental Biology - Animal · doi:10.1007/s11626-005-0005-3 · Cited by 10

Long‐term outcome after neo‐adjuvant chemotherapy for breast cancer in BRCA1/2 carriers

Keet, A. W. W., Al‐Rafae, M., Chappuis, P. O., Brunet, J., Ghadirian, P., & Foulkes, W. D. (2009) · International Journal of Cancer · doi:10.1002/ijc.24596 · Cited by 10

Malignancies following bilateral salpingo-oophorectomy (BSO)

Gotlieb, W. H., Barchana, M., Ben‐Baruch, G., & Friedman, E. (2006) · European Journal of Surgical Oncology · doi:10.1016/j.ejso.2006.03.021 · Cited by 10

Postpartum Breast Cancer and Survival in Women With Germline BRCA Pathogenic Variants

Zhang, Z., Ye, S., Bernhardt, S. M., Nelson, H. D., Velie, E. M., Borges, V. F., Woodward, E. R., Evans, D. G., & Schedin, P. J. (2024) · JAMA Network Open · doi:10.1001/jamanetworkopen.2024.7421 · Cited by 13

Systematic investigation of BRCA1-A, -B, and -C complexes and their functions in DNA damage response and DNA repair

Li, S., Tang, M., Xiong, Y., Feng, X., Wang, C., Nie, L., Huang, M., Zhang, H., Yin, L., Zhu, D., et al. (2024) · Oncogene · doi:10.1038/s41388-024-03108-y · Cited by 10

Global-local aware Heterogeneous Graph Contrastive Learning for multifaceted association prediction in miRNA–gene–disease networks

Si, Y., Huang, Z., Fang, Z., Yuan, Z., Huang, Z., Li, Y., Wei, Y., Wu, F. Q., & Yao, Y. (2024) · Briefings in Bioinformatics · doi:10.1093/bib/bbae443 · Cited by 9

Hydrophobic tagging: A promising paradigm for targeted protein degradation

Xin, L., Wang, H., Yang, M., Guo, Z., Zhu, M., Moore, T. W., Dong, C., & Zhou, H. (2025) · Cell Insight · doi:10.1016/j.cellin.2025.100295 · Cited by 10

Structural insights into DNA double-strand break signaling

Panigrahi, R., & Glover, J. N. M. (2021) · Biochemical Journal · doi:10.1042/bcj20200066 · Cited by 8

Implementation of BRCA mutations testing in formalin-fixed paraffin-embedded (FFPE) samples of different cancer types

Zannini, G., Facchini, G., SIO, M. D., Vita, F. D., Ronchi, A., Orditura, M., Vietri, M. T., Ciardiello, F., Franco, R., Accardo, M., et al. (2023) · Pathology - Research and Practice · doi:10.1016/j.prp.2023.154336 · Cited by 9

Sequence Variants of BRCA1 and BRCA2 Genes in Four Iranian Families with Breast and Ovarian Cancer.

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Clinical and Pathological Characteristics of Incidental Diagnostic Early Occult Malignancy After Risk-Reducing Salpingo-Oophorectomy in BRCA Mutation Carriers

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