Aim: To assess the expression of receptors for androgen (AR), oestrogen (ER) and progesterone (PR) as well as human epidermal growth factor receptor type 2 (Her-2/neu) status of breast carcinomas in breast cancer susceptibility gene (BRCA) BRCA1/2 mutation carriers and BRCA1/2 negative tested women.
Methods: One hundred and thirty-five breast cancers in women tested for BRCA1/2 mutations. Screening for BRCA1 and BRCA2 mutations was performed by direct sequencing of all BRCA1 and BRCA2 exons as well as the surrounding intronic sequences. Additionally, BRCA genes were analysed with multiplex ligation-dependent probe amplification. Consecutive paraffin sections were examined immunohistochemically for AR, ER, PR and Her-2/neu.
Results: Of the 135 tumours, 43 (32%) were BRCA1-related, 18 (13%) were BRCA2-related and 74 (55%) were BRCA1/2-negative. Seventy-two per cent of the BRCA1-related, 22% of the BRCA2-related and 12% of the BRCA1/2-negative tumours were triple (ER, PR, Her2neu)-negative. Eighty-four per cent of BRCA1 mutated cancers were high-grade (G3) tumours. ARs were expressed in 30% (13 of 43) of BRCA1-related, in 78% (14 of 18) in BRCA2-related tumours and in 76% (56 of 74) in BRCA1/2 negative tumours. Twenty-one per cent of ER-negative BRCA1-related tumours expressed androgen receptors.
Conclusion: Approximately one in five BRCA1 mutated breast cancers negative for ER and PR express androgen receptors. Modulation of AR might open a new avenue for treating these high-risk cancers.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1111/j.1365-2559.2010.03724.x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Mutation Spectrum Analysis of BRCA1/2 Genes for Hereditary Breast and Ovarian Cancer in the Indian Population.
Asian Pac J Cancer Prev
December 2024
Department of Surgical Pathology and Molecular Biology, Global Reference Laboratory, Metropolis Healthcare Limited, Vidyavihar, Mumbai, Maharashtra, India.
Objective: The objective of this study was to determine the prevalence and spectrum of genetic mutations linked to inherited breast and ovary cancer (HBOC) in the Indian population, and to evaluate the correlation of BRCA mutation types, frequency, and incidence with age, gender, and personal and family history.
Methods: A retrospective cohort of 500 Indian HBOC patients, meeting NCCN criteria who underwent BRCA1/2 testing from 2017 to 2023 were shortlisted for this study. The anonymized data was retrieved from medical records.
BREAST CANCER AND DIAGNOSTIC METHODS: UNDERSTANDING THE ROLE OF BRCA1 AND BRCA2.
Georgian Med News
October 2024
6Chitkara Centre for Research and Development, Chitkara University, Himachal Pradesh, India.
Breast cancer is a disease that has a 1 in 8 lifetime risk for women, making it an international burden. Although breast cancer mostly affects women, men have a lifetime risk of around 1 in 1000. The majority of breast cancer instances continue linked to breast cancers that have acquired somatic mutations during a person's lifespan.
View Article and Find Full Text PDFBreast cancer outcomes in women with ovarian cancer and a pathogenic germline BRCA mutation.
Eur J Surg Oncol
November 2024
Breast Surgery Unit, The Royal Marsden NHS Foundation Trust, London, UK; Institute of Cancer Research, London, UK. Electronic address:
Background: Women with ovarian cancer (OC) and a pathogenic variant in the BRCA1 or BRCA2 genes are at increased risk of developing breast cancer (BC). Evidence for long term outcomes in these patients who undergo bilateral risk reduction mastectomy (RRM) after ovarian cancer is sparse. The aim of this study was to analyse the long-term breast cancer-related outcomes of patients who have been diagnosed with ovarian cancer and found to have BRCA1 or 2 pathogenic variants.
View Article and Find Full Text PDFHomologous recombination deficiency (HRD) diagnostics: underlying mechanisms and new perspectives.
Cancer Metastasis Rev
December 2024
Institute of Chemical Biology and Fundamental Medicine, Novosibirsk, 630090, Russia.
Homologous recombination deficiency (HRD) is considered a universal and effective sign of a tumor's sensitivity to poly(ADP-ribose) polymerase (PARP) inhibitors. HRD diagnostics have undergone several stages of transformations: from detection of point mutations in HR-related genes and large regions with loss of heterozygosity detected using single-nucleotide polymorphism arrays to whole-genome signatures of single-nucleotide variants, large genomic rearrangements (LGRs), and copy number alterations. All these methods have their own advantages and limitations.
View Article and Find Full Text PDFThe Potential of PARP Inhibitors as Antitumor Drugs and the Perspective of Molecular Design.
J Med Chem
December 2024
College of Chemical Engineering, Qingdao University of Science and Technology, Qingdao 266042, China.
PARP (poly-ADP ribose polymerase) has received widespread attention in cancer treatment. Research has shown that PARP plays a crucial role in DNA damage repair and has become a popular target for drug design. Based on the mechanism of "synthetic lethality", multiple PARPis (PARP inhibitors) have been launched for the treatment of BRCA deficient tumors.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!