Clinicopathological features of breast cancer in Japanese female patients with Lynch syndrome

Nobuhiko Kanaya, Kohji Tanakaya, Rie Yamasaki, Takashi Arata, Kunitoshi Shigeyasu, Hideki Aoki, Toshiaki Morito, Hiromi Sanaii, Kiwamu Akagi, Toshiyoshi Fujiwara

Research output: Contribution to journalArticle

Abstract

Background: Lynch syndrome (LS) is a predominantly inherited syndrome caused by a pathological germline mutation in one of the mismatch repair (MMR) genes. Whether breast cancer (BC) is one of the LS-associated tumors is controversial. The aim of this retrospective cohort study was to evaluate the clinical features of BC in Japanese patients with LS. Methods: Of 38 mutation carriers, 4 females with BC were examined in this study. Results: Two of the four patients had multiple BC. Their median age at the diagnosis of BC was 63 (range, 47–84) years. The TNM (6th revision) stages of the six BCs were as follows: stage I, 33% (2/6); stage IIA, 50% (3/6); and stage IIB, 17% (1/6). Histological examination revealed four scirrhous, one papillotubular, and one medullary carcinoma. The positive ratios for estrogen receptor (ER), progesterone receptor (PgR), and human epidermal growth receptor 2 (HER2) were 83.3% (5/6), 83.3% (5/6), and 16.7% (1/6), respectively. Two of the three specimens showed MSI-H and one showed MSS. These MSI-H BCs had tumor-infiltrating lymphocytes. Two of the three specimens showed an absence of MLH1 and PMS2 proteins on immunohistochemistry. The cumulative risks for a person with LS to develop BC were 4.35% at the age of 50 years, 8.70% at 60 years, and 21.5% at 70 years. Conclusions: Our study results showed BC in Japanese females with LS to be an MSI-H tumor, which was ER and PgR positive and HER2 negative.

Original languageEnglish
JournalBreast Cancer
DOIs
Publication statusAccepted/In press - Jan 1 2018

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Hereditary Nonpolyposis Colorectal Neoplasms
Breast Neoplasms
Progesterone Receptors
Estrogen Receptors
Tumor-Infiltrating Lymphocytes
Medullary Carcinoma
DNA Mismatch Repair
Germ-Line Mutation
Growth
Neoplasms
Cohort Studies
Retrospective Studies
Immunohistochemistry
Mutation

Keywords

  • Breast cancer
  • Lynch syndrome
  • Mismatch repair gene

ASJC Scopus subject areas

  • Oncology
  • Radiology Nuclear Medicine and imaging
  • Pharmacology (medical)

Cite this

Clinicopathological features of breast cancer in Japanese female patients with Lynch syndrome. / Kanaya, Nobuhiko; Tanakaya, Kohji; Yamasaki, Rie; Arata, Takashi; Shigeyasu, Kunitoshi; Aoki, Hideki; Morito, Toshiaki; Sanaii, Hiromi; Akagi, Kiwamu; Fujiwara, Toshiyoshi.

In: Breast Cancer, 01.01.2018.

Research output: Contribution to journalArticle

Kanaya, N, Tanakaya, K, Yamasaki, R, Arata, T, Shigeyasu, K, Aoki, H, Morito, T, Sanaii, H, Akagi, K & Fujiwara, T 2018, 'Clinicopathological features of breast cancer in Japanese female patients with Lynch syndrome', Breast Cancer. https://doi.org/10.1007/s12282-018-0931-z
Kanaya, Nobuhiko ; Tanakaya, Kohji ; Yamasaki, Rie ; Arata, Takashi ; Shigeyasu, Kunitoshi ; Aoki, Hideki ; Morito, Toshiaki ; Sanaii, Hiromi ; Akagi, Kiwamu ; Fujiwara, Toshiyoshi. / Clinicopathological features of breast cancer in Japanese female patients with Lynch syndrome. In: Breast Cancer. 2018.
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title = "Clinicopathological features of breast cancer in Japanese female patients with Lynch syndrome",
abstract = "Background: Lynch syndrome (LS) is a predominantly inherited syndrome caused by a pathological germline mutation in one of the mismatch repair (MMR) genes. Whether breast cancer (BC) is one of the LS-associated tumors is controversial. The aim of this retrospective cohort study was to evaluate the clinical features of BC in Japanese patients with LS. Methods: Of 38 mutation carriers, 4 females with BC were examined in this study. Results: Two of the four patients had multiple BC. Their median age at the diagnosis of BC was 63 (range, 47–84) years. The TNM (6th revision) stages of the six BCs were as follows: stage I, 33{\%} (2/6); stage IIA, 50{\%} (3/6); and stage IIB, 17{\%} (1/6). Histological examination revealed four scirrhous, one papillotubular, and one medullary carcinoma. The positive ratios for estrogen receptor (ER), progesterone receptor (PgR), and human epidermal growth receptor 2 (HER2) were 83.3{\%} (5/6), 83.3{\%} (5/6), and 16.7{\%} (1/6), respectively. Two of the three specimens showed MSI-H and one showed MSS. These MSI-H BCs had tumor-infiltrating lymphocytes. Two of the three specimens showed an absence of MLH1 and PMS2 proteins on immunohistochemistry. The cumulative risks for a person with LS to develop BC were 4.35{\%} at the age of 50 years, 8.70{\%} at 60 years, and 21.5{\%} at 70 years. Conclusions: Our study results showed BC in Japanese females with LS to be an MSI-H tumor, which was ER and PgR positive and HER2 negative.",
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author = "Nobuhiko Kanaya and Kohji Tanakaya and Rie Yamasaki and Takashi Arata and Kunitoshi Shigeyasu and Hideki Aoki and Toshiaki Morito and Hiromi Sanaii and Kiwamu Akagi and Toshiyoshi Fujiwara",
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T1 - Clinicopathological features of breast cancer in Japanese female patients with Lynch syndrome

AU - Kanaya, Nobuhiko

AU - Tanakaya, Kohji

AU - Yamasaki, Rie

AU - Arata, Takashi

AU - Shigeyasu, Kunitoshi

AU - Aoki, Hideki

AU - Morito, Toshiaki

AU - Sanaii, Hiromi

AU - Akagi, Kiwamu

AU - Fujiwara, Toshiyoshi

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Background: Lynch syndrome (LS) is a predominantly inherited syndrome caused by a pathological germline mutation in one of the mismatch repair (MMR) genes. Whether breast cancer (BC) is one of the LS-associated tumors is controversial. The aim of this retrospective cohort study was to evaluate the clinical features of BC in Japanese patients with LS. Methods: Of 38 mutation carriers, 4 females with BC were examined in this study. Results: Two of the four patients had multiple BC. Their median age at the diagnosis of BC was 63 (range, 47–84) years. The TNM (6th revision) stages of the six BCs were as follows: stage I, 33% (2/6); stage IIA, 50% (3/6); and stage IIB, 17% (1/6). Histological examination revealed four scirrhous, one papillotubular, and one medullary carcinoma. The positive ratios for estrogen receptor (ER), progesterone receptor (PgR), and human epidermal growth receptor 2 (HER2) were 83.3% (5/6), 83.3% (5/6), and 16.7% (1/6), respectively. Two of the three specimens showed MSI-H and one showed MSS. These MSI-H BCs had tumor-infiltrating lymphocytes. Two of the three specimens showed an absence of MLH1 and PMS2 proteins on immunohistochemistry. The cumulative risks for a person with LS to develop BC were 4.35% at the age of 50 years, 8.70% at 60 years, and 21.5% at 70 years. Conclusions: Our study results showed BC in Japanese females with LS to be an MSI-H tumor, which was ER and PgR positive and HER2 negative.

AB - Background: Lynch syndrome (LS) is a predominantly inherited syndrome caused by a pathological germline mutation in one of the mismatch repair (MMR) genes. Whether breast cancer (BC) is one of the LS-associated tumors is controversial. The aim of this retrospective cohort study was to evaluate the clinical features of BC in Japanese patients with LS. Methods: Of 38 mutation carriers, 4 females with BC were examined in this study. Results: Two of the four patients had multiple BC. Their median age at the diagnosis of BC was 63 (range, 47–84) years. The TNM (6th revision) stages of the six BCs were as follows: stage I, 33% (2/6); stage IIA, 50% (3/6); and stage IIB, 17% (1/6). Histological examination revealed four scirrhous, one papillotubular, and one medullary carcinoma. The positive ratios for estrogen receptor (ER), progesterone receptor (PgR), and human epidermal growth receptor 2 (HER2) were 83.3% (5/6), 83.3% (5/6), and 16.7% (1/6), respectively. Two of the three specimens showed MSI-H and one showed MSS. These MSI-H BCs had tumor-infiltrating lymphocytes. Two of the three specimens showed an absence of MLH1 and PMS2 proteins on immunohistochemistry. The cumulative risks for a person with LS to develop BC were 4.35% at the age of 50 years, 8.70% at 60 years, and 21.5% at 70 years. Conclusions: Our study results showed BC in Japanese females with LS to be an MSI-H tumor, which was ER and PgR positive and HER2 negative.

KW - Breast cancer

KW - Lynch syndrome

KW - Mismatch repair gene

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