TY - JOUR
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
N1 - Funding Information:
Acknowledgements This research was supported by Japan Agency for Medical Research and Development (AMED) under Grant no. JP18kk0205004.
Funding Information:
This research was supported by Japan Agency for Medical Research and Development (AMED) under Grant no. JP18kk0205004.
PY - 2019/5/1
Y1 - 2019/5/1
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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U2 - 10.1007/s12282-018-0931-z
DO - 10.1007/s12282-018-0931-z
M3 - Article
C2 - 30446972
AN - SCOPUS:85056746120
SN - 1340-6868
VL - 26
SP - 359
EP - 364
JO - Breast Cancer
JF - Breast Cancer
IS - 3
ER -
