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Type: Journal article
Title: Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry
Author: Walsh, M.
Buchanan, D.
Cummings, M.
Pearson, S.
Arnold, S.
Clendenning, M.
Walters, R.
McKeone, D.
Spurdle, A.
Hopper, J.
Jenkins, M.
Phillips, K.
Suthers, G.
George, J.
Goldblatt, J.
Muir, A.
Tucker, K.
Pelzer, E.
Gattas, M.
Woodall, S.
et al.
Citation: Clinical Cancer Research, 2010; 16(7):2214-2224
Publisher: Amer Assoc Cancer Research
Issue Date: 2010
ISSN: 1078-0432
Statement of
Michael D. Walsh, Daniel D. Buchanan, Margaret C. Cummings, Sally-Ann Pearson, Sven T. Arnold, Mark Clendenning, Rhiannon Walters, Diane M. McKeone, Amanda B. Spurdle, John L. Hopper, Mark A. Jenkins, Kerry D. Phillips, Graeme K. Suthers, Jill George, Jack Goldblatt, Amanda Muir, Kathy Tucker, Elise Pelzer, Michael R. Gattas, Sonja Woodall, Susan Parry, Finlay A. Macrae, Robert W. Haile, John A. Baron, John D. Potter, Loic Le Marchand, Bharati Bapat, Stephen N. Thibodeau, Noralane M. Lindor, Michael A. McGuckin and Joanne P. Young
Abstract: 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.
Keywords: Humans
Breast Neoplasms
Breast Neoplasms, Male
Colonic Neoplasms
Colorectal Neoplasms, Hereditary Nonpolyposis
Genetic Predisposition to Disease
Case-Control Studies
Aged, 80 and over
Middle Aged
DNA Mismatch Repair
Genetic Carrier Screening
Rights: Copyright © 2010 American Association for Cancer Research
DOI: 10.1158/1078-0432.CCR-09-3058
Appears in Collections:Aurora harvest
Paediatrics publications

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