Microsatellite instability in medullary breast carcinomas

Schmitt, Fernando; Soares, Raquel; Gobbi, Helenice; Milanezzi, Fernanda; Santos-Silva, Filipe; Cirnes, Luı́s; Costa, Carla; Seruca, Raquel

doi:10.1002/(sici)1097-0215(19990827)82:5<644::aid-ijc5>3.0.co;2-s

Cited by 27 publications

(17 citation statements)

References 13 publications

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“…A dense lymphocytic infiltrate has also been described in breast cancers of patients with BRCA1 mutations [12,13]. Microsatellite instability has therefore been studied in medullary breast cancer but has been infrequently found [14]. A dense lymphocytic infiltrate in a breast tumor was reported by Borg et al [8] in one patient with both BRCA1 and MLH1 mutations, but not in another patient with the same mutations.…”

Section: Discussionmentioning

confidence: 92%

Breast cancer in an MSH2 gene mutation carrier

Westenend¹,

Schütte

Hoogmans

et al. 2005

Human Pathology

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Section: Discussionmentioning

confidence: 92%

Breast cancer in an MSH2 gene mutation carrier

Westenend¹,

Schütte

Hoogmans

et al. 2005

Human Pathology

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“…Medullary carcinomas of the breast show morphological similarities to the MSI-high colorectal tumors (poor differentiation and lymphocytic infiltrate) and a proportion of these are MSI-high (37). Many of the studies to date investigating the issue of breast carcinomas arising in the setting of Lynch syndrome have been anecdotal case reports of one or two patients who have shown loss of appropriate MMR proteins by immunohistochemistry and/or high levels of microsatellite instability in tumors arising in proven mutation carriers (19;38;39).…”

Section: Discussionmentioning

confidence: 99%

Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry

Walsh

Buchanan

Cummings

et al. 2010

Clinical Cancer Research

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Purpose: The recognition of breast cancer as a spectrum tumor in Lynch syndrome remains controversial. The aim of this study was to explore features of breast cancers arising in Lynch syndrome families.Experimental Design: This observational study involved 107 cases of breast cancer identified from the Colorectal Cancer Family Registry (Colon CFR) from 90 families in which (a) both breast and colon cancer co-occurred, (b) families met either modified Amsterdam criteria, or had at least one early-onset (<50 years) colorectal cancer, and (c) breast tissue was available within the biospecimen repository for mismatch repair (MMR) testing. Eligibility criteria for enrollment in the Colon CFR are available online. Breast cancers were reviewed by one pathologist. Tumor sections were stained for MLH1, PMS2, MSH2, and MSH6, and underwent microsatellite instability testing.Results: Breast cancer arose in 35 mutation carriers, and of these, 18 (51%) showed immunohistochemical absence of MMR protein corresponding to the MMR gene mutation segregating the family. MMR-deficient breast cancers were more likely to be poorly differentiated (P = 0.005) with a high mitotic index (P = 0.002), steroid hormone receptor-negative (estrogen receptor, P = 0.031; progesterone receptor, P = 0.022), and to have peritumoral lymphocytes (P = 0.015), confluent necrosis (P = 0.002), and growth in solid sheets (P < 0.001) similar to their colorectal counterparts. No difference in age of onset was noted between the MMR-deficient and MMR-intact groups.Conclusions: MMR deficiency was identified in 51% of breast cancers arising in known mutation carriers. Breast cancer therefore may represent a valid tissue option for the detection of MMR deficiency in which spectrum tumors are lacking.

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“…Tumors diagnosed as hereditary nonpolyposis colorectal cancer show MI at many tested microsatellite loci. However, sporadic carcinomas, in general, display quantitatively less MI (Schmitt et al 1999). Investigation of MI in OSCC and oral epithelial dysplastic lesions (OEDLs) has provided evidence that mismatch-repair genes are implicated in the genesis of oral cancer.…”

Section: Introductionmentioning

confidence: 99%

Frequent loss of heterozygosity at 3p25-p26 is associated with invasive oral squamous cell carcinoma

et al. 2001

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Recent molecular evidence suggests that allelic deletions of chromosomes are involved in the carcinogenesis of various neoplasms, including oral squamous cell carcinoma (OSCC). To determine the role of 3p deletions in Japanese OSCC and to define the localization of putative tumor suppressor genes, we initially examined loss of heterozygosity (LOH), using nine microsatellite markers in 36 OSCCs and 28 oral epithelial dysplastic lesions (OEDLs). LOH on chromosome 3p was observed at one or more loci in 72% of OSCCs and 18% of OEDLs. Fourteen (61%) of 23 OSCC patients informative at D3S2450 (3pter-p24.2) showed LOH most frequently, in contrast to OEDL, where LOH was never seen at this locus. Interestingly, we found a significant association between an allelic deletion at this locus and the histologic grade of mode of tumor invasion. Therefore, we also examined allelic deletion on chromosome 3p telomeric to where D3S2450 was located. A common deletion region was identified between D3S2450 and D3S3591. Our results provide evidence for the presence of a tumor suppressor gene in a 0.8-cM region bordered by D3S2450 and D3S3591 at 3p25-p26, which may play a role in carcinogenesis and invasion of OSCC.

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Microsatellite instability in medullary breast carcinomas

Cited by 27 publications

References 13 publications

Breast cancer in an MSH2 gene mutation carrier

Breast cancer in an MSH2 gene mutation carrier

Lynch Syndrome–Associated Breast Cancers: Clinicopathologic Characteristics of a Case Series from the Colon Cancer Family Registry

Frequent loss of heterozygosity at 3p25-p26 is associated with invasive oral squamous cell carcinoma

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