Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC‐associated familial predisposition to cancer

Hirai, Yasuo; Banno, Kouji; Suzuki, Masami; Ichikawa, Yoshihito; Udagawa, Yasuhiro; Sugano, Kokichi; Miki, Y

doi:10.1111/j.1349-7006.2008.00886.x

Cited by 24 publications

(19 citation statements)

References 25 publications

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“…Although MLH1 and MSH2 are the commonest mutated genes in patients with Lynch syndromeassociated colorectal carcinomas, MSH6 appears to be the commonest in endometrial carcinomas (11,25). The incidence of an isolated loss of MSH6 protein expression in our study was 16.4% (11 of 67 patients).…”

Section: Discussionmentioning

confidence: 54%

“…More than 50% of female Lynch syndrome patients presented with a gynecologic cancer as their sentinel malignancy (5)(6)(7)(8), and in which 70% of them did not meet either Amsterdam criteria or Bethesda guidelines for Lynch Syndrome Screening (9). MSH6 was the commonest mutated MMR genes in patients with Lynch syndrome-associated endometrial carcinoma (10,11), in contrast to MLH1 and MSH2 in colorectal carcinoma.…”

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confidence: 94%

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The Significance of Mismatch Repair Deficiency in Young Patients With Endometrial Cancer

Chu

Liu

Tam

et al. 2015

International Journal of Gynecological Pathology

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The objective of this study was to identify the tumor characteristics associated with mismatch repair deficiency in young patients with endometrial carcinoma. Young patients (45 yr old or younger) with endometrial carcinoma treated by hysterectomy in our institution between July 2001 and June 2009 were identified. The clinical and pathologic data were obtained by review of clinical records. Among the 122 cases identified, paraffin sections were available in 67 cases for immunohistochemical staining and frozen tissue available in 62 cases for microsatellite instability (MSI) analysis. Both paraffin sections and frozen tissue were available in 36 cases. Among the 67 cases with immunohistochemical staining, 22 (32.8%) showed loss of expression of at least 1 mismatch repair protein. Defective MLH1 or MSH2 expression was associated with poor prognostic factors, including a higher incidence of pelvic lymph nodes metastasis (P=0.018) and higher stage (P=0.022) for MLH1, and an increased risk of lymphovascular permeation (P=0.015) for MSH2. On the contrary, defective MSH6 protein expression was associated with a lower incidence of high-grade tumors (P=0.04). Among the 62 cases with MSI analysis, 12 (19.4%) tumors were classified as microsatellite-high (MSI-H), whereas 2 (3.2%) were classified as microsatellite-low (MSI-L). There was no difference in the pathologic characteristics between MSI-stable and MSI-H tumor. We concluded that defective mismatch repair expression is important in young patients with endometrial carcinoma, with MSH6 protein being most commonly affected. The phenotype resulting from defective MSH6 expression was different from that caused by MLH1 or MSH2 loss.

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Section: Discussionmentioning

confidence: 54%

mentioning

confidence: 94%

The Significance of Mismatch Repair Deficiency in Young Patients With Endometrial Cancer

Chu

Liu

Tam

et al. 2015

International Journal of Gynecological Pathology

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“…53,[65][66][67][68][69] The syndrome is inherited in an autosomal dominant manner with an estimated penetrance of 85% by 80 years of age. 71,72 Some authors have stratified HNCCS into three subgroups: Lynch I, Lynch II, and Lynch III. 64,73 The Lynch I group is comprised of patients with familial colorectal tumors, while Lynch II consists of patients with familial extracolonic tumors.…”

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confidence: 99%

Sebaceous lesions and their associated syndromes: Part II

Eisen¹,

Michael²

2009

Journal of the American Academy of Dermatology

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“…In contrast, all three patients with double cancer, including breast or ovarian cancer, had mutations in hMSH6. All of the double cancers developed simultaneously with or before development of endometrial cancer [13,14]. These results suggest that there may be many cases of Lynch syndrome-related endometrial cancer and that genetic analyses for MMR genes are useful in patients with endometrial or double cancer showing a familial cluster of cancer.…”

Section: Hereditary Endometrial Cancer Not Meeting the Amsterdam II Cmentioning

confidence: 80%

Hereditary Endometrial Cancer: Lynch Syndrome

Banno

Kisu

Yanokura

et al. 2012

Curr Obstet Gynecol Rep

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Molecular epidemiological and mutational analysis of DNA mismatch repair (MMR) genes in endometrial cancer patients with HNPCC‐associated familial predisposition to cancer

Cited by 24 publications

References 25 publications

The Significance of Mismatch Repair Deficiency in Young Patients With Endometrial Cancer

The Significance of Mismatch Repair Deficiency in Young Patients With Endometrial Cancer

Sebaceous lesions and their associated syndromes: Part II

Hereditary Endometrial Cancer: Lynch Syndrome

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