Skip Navigation
Skip to contents
Results by Year

View Wide

Filter

ARTICLE TYPE

PUBLICATION DATE

26 results
Display

Prevalence of PALB2 Germline Mutations in Early-onset and Familial Breast/Ovarian Cancer Patients from Pakistan

Rashid MU, Khan FA, Muhammad N, Loya A, Hamann U

PURPOSE: Partner and localizer of BRCA2 (PALB2) is a breast cancer susceptibility gene that plays an important role in DNA repair. This is the first study assessing the prevalence of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Smith-Kingsmore syndrome: The first report of a Korean patient with the MTOR germline mutation c.5395G>A p.(Glu1799Lys)

Lee D, Jang JH, Lee CG

Smith-Kingsmore syndrome (SKS; OMIM 616638), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS; ORPHA 457485), is a rare autosomal dominant disorder, the prevalence of which is not known. It...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Novel Germline Mutations of BRCA1 and BRCA2 in Korean Familial Breast Cancer Patients

Kim HN, Shin MH, Lee R, Park MH, Kweon SS

Breast cancer is the second most common cancer in Korean women. Germline mutations in the BRCA1 and BRCA2 genes cause hereditary breast cancer and are detected in 15–20% of hereditary...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2

Eoh KJ, Kim JE, Park HS, Lee ST, Park JS, Han JW, Lee JY, Kim S, Kim SW, Kim JH, Kim YT, Nam EJ

PURPOSE: Next-generation sequencing (NGS) allows simultaneous sequencing of multiple cancer susceptibility genes and may represent a more efficient and less expensive approach than sequential testing. We assessed the frequency of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Novel Germline Mutation in BRCA1 Causes Exon 20 Skipping in a Korean Family with a History of Breast Cancer

Yoon KA, Kong SY, Lee EJ, Cho JN, Chang S, Lee ES

Germline mutations in the BRCA1 and BRCA2 genes are strong genetic factors for predispositions to breast, ovarian, and other related cancers. This report describes a family with a history of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Case Report of Menopausal Woman Diagnosed with Endometrial Cancer after Colon Cancer with Germline Mutation in MSH6 in Korea

Lee HJ, Lee MH, Choi MC, Jung SG, Joo WD, Kim TH, Lee C, Jang JH

We present a case of an endometrial cancer patient with germline mutation in MutS homolog 6 (MSH6), associated with Lynch syndrome. A 60-year-old Korean woman had a personal history of...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Novel Germline Mutation of the APC Gene: A Case Report of Familial Adenomatous Polyposis Requiring Repeated Endoscopic Resections for Gastroduodenal Polyps

Lee JH, Jang JW, Kim BW, Park ES, Kim SY

Familial adenomatous polyposis (FAP) is a precancerous clinical entity, which is characterized by the development of numerous adenomatous polyps throughout the colon and rectum. The majority of FAP are associated...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Haddad Syndrome with a Germ-Line Mutation in the PHOX2B Gene in a Korean Neonate

Baek C, Jung JM, Lim YJ, Kim KH, Yu HW, Kim GH, Chung ML

Congenital central hypoventilation syndrome (CCHS) is a life-threatening disease that primarily manifests as sleep-associated respiratory insufficiency and a markedly impaired ventilatory response to hypercarbia and hypoxemia. Paired-like homeobox 2b (PHOX2B)...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Novel Germline Mutation of BRCA1 Gene in a 56-Year-Old Woman with Breast Cancer, Ovarian Cancer, and Diffuse Large B-Cell Lymphoma

Kim HS, Lee SW, Choi YJ, Shin SW, Kim YH, Cho MS, Lee SN, Park KH

We report a case of a 56-year-old woman with breast cancer, ovarian cancer, and diffuse large B-cell lymphoma with a BRCA1 gene mutation. Evidence is mounting that there is a...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Early-Onset Breast Cancer in a Family with Neurofibromatosis Type 1 Associated with a Germline Mutation in BRCA1

Jeon YW, Kim RM, Lim ST, Choi HJ, Suh YJ

Neurofibromatosis type 1 (NF1), which may occur as an autosom-al dominant disorder, is caused by the absence of neurofibromin protein due to somatic mutations in the NF1 gene, and it...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Novel Germline Mutation of MEN1 Gene in a Young-aged Multiple Insulinoma with Hyperparathyroidism

Park YJ

Multiple endocrine neoplasia type 1 is an autosomal dominant disease caused by the MEN1 germline mutation. A 25-year-old male was admitted for loss of consciousness. Initial laboratory data showed hypoglycemia...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Peutz-Jeghers syndrome with germline mutation of STK11

Chae HD, Jeon CH

Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
One Case of a BRCA1 Germ Line Mutation Ovarian Carcinoma Patient Based on Abnormal Immunohistochemistry Finding

Kim HJ, Park JM, Lee HW, Lee EH, Kim MK

No abstract available.
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Case of Perimenopausal Endometrial Cancer in a Woman with MSH2 Germline Mutation

Heo EJ, Park JM, Lee EH, Lee HW, Kim MK

Lynch syndrome is a genetic malignancy syndrome affecting the colon, endometrium, and other organs. It is difficult to find a Lynch syndrome patient without any family history of cancer. We...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
One Case of BRCA2 Germline Mutation Ovarian Cancer Mother and Carrier Daughter found by Genetic Counseling

Lee EJ, Jeong HJ, Kim MK

Among cause of carcinogenesis, heredity is believed to take about 10 percent in ovarian cancer. BRCA1 or BRCA2 account for largest portion of Hereditary Breast and Ovary Cancer (HBOC). Frequency...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Characteristics of the RET Oncogene Germline Mutations in Korean Medullary Thyroid Carcinoma: A Literature Review

Sin DJ, Min JW, Chang MC

PURPOSE: Germline mutation of the RET oncogene results in multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid cancer (FMTC). We reviewed the literature to determine the...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Case of Type 1 von Hippel-Lindau (VHL) Disease associated with VHL Germline Mutation

Seo JH, Yang JH, Choi PL, Kim YL, Choi YS, Park YH, Ko JH, Kang HC, Kim IJ, Park JG

Von Hippel-Lindau (VHL) disease is an autosomal dominant neoplasia syndrome that result from a germline mutation in the VHL gene. Germline mutation in the VHL gene lead to the development...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Germline Mutations and polymorphisms of BRCA1 and BRCA2 in Sporadic Ovarian Carcinoma

Nam EJ, Kim YT, Kim SH, Kim JH, Koo JS, Kim SW, Kim JW, Kim HK

  • KMID: 1594570
  • Korean J Obstet Gynecol.
  • 2005 Jun;48(6):1466-1475.
OBJECTIVE: Mutations in the BRCA1 and BRCA2 genes predispose women to ovarian and/or breast cancer. The purposes of this study were firstly to investigate the presence of BRCA1 and BRCA2...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
Is the BRCA Germline Mutation a Prognostic Factor in Korean Patients with Early-onset Breast Carcinomas?

Choi DH, Lee MH, Haffty BG

  • KMID: 1840768
  • J Korean Soc Ther Radiol Oncol.
  • 2003 Jun;21(2):149-157.
PURPOSE: The purpose of this study was to determine if there were prognostic differences between BRCA related and BRCA non-related Korean patients with early-onset breast carcinomas. MATERIALS AND METHODS: Sixty women...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close
A Case of Multiple Endocrine Neoplasia 2A with Germ Line Mutation of RET Gene

Kim HY, Lee JY, Kim SB, Lee KW, Seo JA, Oh JH, Kim SG, Choi KM, Baik SH, Choi DS, Kim NH

  • KMID: 2331186
  • J Korean Soc Endocrinol.
  • 2003 Oct;18(5):481-488.
Multiple endocrine neoplasia 2A (MEN 2A) is an autosomal dominantly inherited disease, composed of medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. The activation of germ-line mutations in the RET proto-oncogene are...
CITED
export Copy
Close
SHARE
Twitter Facebook
Close

Go to Top

Copyright © 2022 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr