Loss of Mismatch Repair Protein Expression in Breast Carcinoma in Patients with Lynch Syndrome: Report of Two Cases

Beggs, Andrew D; Kousparos, George; Hodgson, Shirley

doi:10.1111/tbj.12077

Cited by 4 publications

(2 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Even though the risk of breast cancer in Lynch syndrome remains controversial, growing evidence supports that monoallelic mutations in certain MMR genes are associated with an increased breast cancer risk [17][18][19][20][21]. Shlien et al first identified the ultra-hypermutated phenotype in brain tumors of children with CMMRD [10] and the sister's ultra-hypermutated glioblastoma showed the highest mutational burden documented in literature to the authors' knowledge.…”

Section: Discussionmentioning

confidence: 99%

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer

et al. 2018

View full text Add to dashboard Cite

Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare autosomal recessive hereditary cancer condition, characterized by an exceptionally high risk of cancer, a propensity for childhood malignancies, and cutaneous features reminiscent of neurofibromatosis type 1 (NF1). We report on two sisters originally suspected of having CMMRD syndrome due to their history of colonic polyps and NF1 associated skin findings, both were subsequently found to have biallelic MSH6 mutations. After years of CMMRD syndrome follow-up, the proband was diagnosed with breast cancer at age 29, while her sister was diagnosed with a glioblastoma at age 27. Immunohistochemistry analysis on the breast tumor tissue revealed weak MSH6 protein staining. Exome sequencing revealed a hypermutated breast tumor and an ultra-hypermutated brain tumor. Multi-gene panel testing was also performed and revealed no additional mutations which might explain the proband's early onset breast cancer. This is the first documented case of breast cancer in an individual with CMMRD syndrome. We summarize the evidence supporting the possible association between breast cancer and biallelic MMR mutations. Healthcare providers should be aware of this possible association and follow-up appropriately for suspicious breast findings. In addition, this case highlights the need for frequent central nervous system screenings due to rapid progression of brain tumors.

show abstract

Section: Discussionmentioning

confidence: 99%

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer

et al. 2018

View full text Add to dashboard Cite

show abstract

“…Several studies have suggested that this premalignant lesion related to LS tends to undergo more rapid development in LS patients than in patients who do not have LS [ 7 , 8 ]. According to the pathological characteristics of LS, a high degree of lymphocyte infiltration is often observed in the cancer tissue, with the tumors being poorly differentiated and mucinous and/or comprising signet ring cell carcinoma [ 2 , 5 , 12 ].…”

Section: Case Presentationmentioning

confidence: 99%

Total colectomy for multiple metachronous colon cancers in a patient with Lynch syndrome

et al. 2015

View full text Add to dashboard Cite

Lynch syndrome (LS) is a disorder caused by mismatch repair gene mutations, which have been recognized to be associated with an increased frequency of colorectal and extracolorectal tumors. However, it remains controversial as to whether total or segmental colectomy should be performed to treat colorectal cancer in patients with LS. A 58-year-old male underwent total colectomy with ileostomy for advanced transverse colon cancer. He was also found to have LS based on his characteristic family history and the findings of a preoperative examination, including a microsatellite instability analysis of past multiple metachronous cancers. The postoperative histological findings showed mucinous adenocarcinoma without lymph node metastasis, and the loss of the MSH2 protein expression was confirmed on an immunohistochemical examination. The present case provided important information on the clinical management of multiple developing metachronous colorectal cancers in patients with LS.

show abstract

Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry

et al. 2017

View full text Add to dashboard Cite

show abstract

Loss of Mismatch Repair Protein Expression in Breast Carcinoma in Patients with Lynch Syndrome: Report of Two Cases

Cited by 4 publications

References 13 publications

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer

Delineating a new feature of constitutional mismatch repair deficiency (CMMRD) syndrome: breast cancer

Total colectomy for multiple metachronous colon cancers in a patient with Lynch syndrome

Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry

Contact Info

Product

Resources

About