Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier

Suspitsin, Evgeny N.; Sokolenko, Anna P.; Voskresenskiy, Dmitry A.; Ivantsov, Alexandr O.; Shelehova, Kseniya V.; Klimashevskiy, Valery F.; Matsko, Dmitry E.; Семиглазов, Владимир; Imyanitov, Evgeny N.

doi:10.1007/s12282-009-0105-0

Cited by 19 publications

(12 citation statements)

References 8 publications

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“…13% of breast tumors from BRCA1 mutation carriers have pure medullary histology (Eisinger et al., 1998), while 60% show medullary‐like features (Lakhani et al., 1998), especially pushing margins and lymphoid infiltration. Metaplastic tumors also have been recently documented in this particular patient subpopulation (Suspitsin et al., 2009). It is interesting to note that 2/4 BRCA1‐mutated breast cancer cell lines are Claudin‐low (MDA‐MB436 and SUM1315), while the other 2 are Basal‐like (SUM149PT and HCC1937) (Elstrodt et al., 2006).…”

Section: Clinical Characteristics Of the Claudin‐low And The Other Inmentioning

confidence: 97%

Deconstructing the molecular portraits of breast cancer

2010

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Breast cancer is a heterogeneous disease in terms of histology, therapeutic response, dissemination patterns to distant sites, and patient outcomes. Global gene expression analyses using high‐throughput technologies have helped to explain much of this heterogeneity and provided important new classifications of cancer patients. In the last decade, genomic studies have established five breast cancer intrinsic subtypes (Luminal A, Luminal B, HER2‐enriched, Claudin‐low, Basal‐like) and a Normal Breast‐like group. In this review, we dissect the most recent data on this genomic classification of breast cancer with a special focus on the Claudin‐low subtype, which appears enriched for mesenchymal and stem cell features. In addition, we discuss how the combination of standard clinical‐pathological markers with the information provided by these genomic entities might help further understand the biological complexity of this disease, increase the efficacy of current and novel therapies, and ultimately improve outcomes for breast cancer patients.

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Section: Clinical Characteristics Of the Claudin‐low And The Other Inmentioning

confidence: 97%

Deconstructing the molecular portraits of breast cancer

2010

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“…described a mixed epithelial/mesenchimal metaplastic carcinoma that was diagnosed in a 35-year-old female carrier of the c.5266dupC mutation. The molecular analysis revealed the loss of the wild-type BRCA1 allele in both the epithelial and the mesenchymal components of the tumor, supporting the role of BRCA1 in its development [49]. A low-grade adenosquamous carcinoma of the breast described by Noel et al was diagnosed in a 49-year-old woman with a previous diagnosis of IDC and the presence of the c.66dupA mutation [50].…”

Section: Discussionmentioning

confidence: 93%

First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report

et al. 2013

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BackgroundAcinic cell carcinoma (ACC) is a rare malignant epithelial neoplasm characterized by the presence of malignant tubular acinar exocrine gland structures. Diagnosis is generally made in salivary glands and in the pancreas. ACC of the breast has been reported in few cases only. Carriers of inherited mutations in the BRCA1 gene are prone to the development of breast cancer, mainly invasive ductal or medullary type carcinomas. We describe for the first time a BRCA1 mutation carrier with a diagnosis of ACC of the breast.Case presentationThe patient developed an invasive ductal carcinoma (IDC) at the age of 40 years and an ACC in the contralateral breast at 44 years. Immunohistochemical examination of the ACC revealed a triple negative status (i.e., negativity for estrogen receptor, progesterone receptor and HER2 protein) and positivity for p53. Using a combination of loss of heterozygosity (LOH) and sequencing analyses, the loss of the wild-type BRCA1 allele was detected in both the ACC and the IDC. In addition, two different somatic TP53 mutations, one in the ACC only and another one in the IDC only, were observed.ConclusionBoth the immunohistochemical and molecular features observed in the ACC are typical of BRCA1-associated breast cancers and suggest an involvement of the patient’s germline mutation in the disease. The occurrence of rare histological types of breast cancers, including malignant phyllodes tumor, atypical medullary carcinoma and metaplastic carcinoma, in BRCA1 mutation carriers has been already reported. Our findings further broaden the spectrum of BRCA1-associated breast malignancies.

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“…The entire coding sequence of the gene was analyzed by HRM and a subsequent sequencing of abnormally melted fragments. Loss of heterozygosity analysis of tumor tissues was performed as described earlier . mRNA expression was measured by SYBR Green real‐time PCR and analyzed by 2 –deltaCt method .…”

Section: Methodsmentioning

confidence: 99%

High prevalence ofGPRC5Agermline mutations inBRCA1-mutant breast cancer patients

et al. 2014

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In a search for new breast cancer (BC) predisposing genes, we performed a whole exome sequencing analysis using six patient samples of familial BC and identified a germline inactivating mutation c.183delG [p. Arg61fs] in an orphan G protein-coupled receptor GPRC5A. An extended case-control study revealed a tenfold enrichment for this mutation in BC patients carrying the 5382insC allele of BRCA1, the major founder mutation in the Russian population, compared to wild-type BRCA1 BC cases [6/117 (5.1%) vs. 8/1578 (0.5%), p 5 0.0002]. In mammary tumors (n 5 60), the mRNA expression of GPRC5A significantly correlated with that of BRCA1 (p 5 0.00018). In addition, the amount of GPRC5A transcript was significantly lower in BC obtained from BRCA1 mutation carriers (n 5 17) compared to noncarriers (n 5 93) (p 5 0.026). Accordingly, a siRNA-mediated knockdown of either BRCA1 or GPRC5A in the MDA-MB-231 human BC cell line reduced expression of GPRC5A or BRCA1, respectively. Knockdown of GPRC5A also attenuated radiation-induced BRCA1-and RAD51-containing nuclear DNA repair foci. Taken together, these data suggest that GPRC5A is a modifier of BC risk in BRCA1 mutation carriers and reveals a functional interaction of these genes.Recent advances in DNA sequencing technologies have revolutionized genetic research. Applying a whole genome or exome sequencing to compare affected and nonaffected individuals within large pedigrees promises a rapid identification of causative genes for diseases demonstrating a clear Mendelian inheritance pattern.

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Mixed epithelial/mesenchymal metaplastic carcinoma (carcinosarcoma) of the breast in BRCA1 carrier

Cited by 19 publications

References 8 publications

Deconstructing the molecular portraits of breast cancer

Deconstructing the molecular portraits of breast cancer

First description of an acinic cell carcinoma of the breast in a BRCA1 mutation carrier: a case report

High prevalence ofGPRC5Agermline mutations inBRCA1-mutant breast cancer patients

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