A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a <i>MEN1</i> Variant of Uncertain Significance-Reference-Cited by-同舟云学术

A Japanese Family Meeting the Clinical Diagnostic Criteria for MEN1 with a <i>MEN1</i> Variant of Uncertain Significance

Published:2023 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Matsubayashi Hiroyuki¹,Kiyozumi Yoshimi¹,Harada Rina¹,Mukaigawa Takashi²,Sugiura Teichi³,Ishiwatari Hirotoshi⁴,Sato Junya⁴,Niiya Fumitaka⁴,Nakashima Kazuaki⁵,Kado Nobuhiro¹,Nishimura Seiichiro¹,Honda Goichi⁶,Ohike Nobuyuki⁷

Affiliation:

1. Division of Genetic Medicine Promotion of Shizuoka Cancer Center, Japan

2. Division of Head and Neck Surgery of Shizuoka Cancer Center, Japan

3. Division of Hepato-Biliary-Pancreatic Surgery of Shizuoka Cancer Center, Japan

4. Division of Endoscopy of Shizuoka Cancer Center, Japan

5. Division of Breast Imaging and Breast Intervention Radiology of Shizuoka Cancer Center, Japan

6. Division of Research Center of Shizuoka Cancer Center, Japan

7. Division of Pathology of Shizuoka Cancer Center, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_2300-23/_pdf

Reference23 articles.

1. 1. Thakker RV, Newey PJ, Walls GV, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 97: 2990-3011, 2012.

2. 2. Thakker RV. Multiple endocrine neoplasia type 1 (MEN1). Best Pract Res Clin Endocrinol Metab 24: 355-370, 2010.

3. 3. Sakurai A, Suzuki S, Kosugi S, et al. Multiple endocrine neoplasia type 1 in Japan: establishment and analysis of a multicentre database. Clin Endocrinol (Oxf) 76: 533-539, 2012.

4. 4. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17: 405-424, 2015.

5. 5. Arai M, Yokoyama S, Watanabe C, et al. Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan. J Hum Genet 63: 447-457, 2018.

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