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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...
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Clinical and Genetic Characteristics of BRCA1/2 Mutation in Korean Ovarian Cancer Patients: A Multicenter Study and Literature Review

Kwon BS, Byun JM, Lee HJ, Jeong DH, Lee TH, Shin KH, Suh DS, Kim KH

PURPOSE: We investigated the clinical relevance and spectrum of BRCA1/2 mutations in Korean ovarian cancer (KoOC) patients. MATERIALS AND METHODS: Two hundred seventy-nine KoOC patients were enrolled from three university hospitals...
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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...
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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...
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A Case of Asymptomatic Multiple Endocrine Neoplasia Type I with Thymic Carcinoid

Park SK, Lee MW, Han IS, Park YJ, Han SY, Park JW, Lee BE, Kim GH, Kim SS

Multiple endocrine neoplasia type 1 (MEN 1) is an autosomal dominant hereditary disorder caused by germline mutation of the MEN1 gene. It is characterized by tumors of the anterior pituitary...
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A Case of Lynch Syndrome with the Deletion of Multiple Exons of the MLH1 Gene, Detected by Next-Generation Sequencing

Hong J, Kim H, Hong YS, Lee W, Lim SB, Byeon JS, Chun S, Min WK

A 26-year-old man underwent colonoscopy to investigate weight loss and a lesion suspicious of colorectal cancer was detected. He had a family history of colorectal cancer and hepatocellular carcinoma. The...
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First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

Lee CG, Jang JH, Seo JY

Tatton-Brown-Rahman Syndrome (TBRS), an overgrowth syndrome caused by heterozygous mutation of DNMT3A, first was described in 2014. Approximately 60 DNMT3A variants, including 32 missense variants, have been reported, with most...
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Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients

Choi Y, Keam B, Kim M, Yoon S, Kim D, Choi JG, Seo JY, Park I, Lee JL

PURPOSE: Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genetic syndrome resulting from germline mutations in fumarate hydratase. The combination of bevacizumab plus erlotinib showed promising interim results...
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PTEN Mutation Identified in Patient Diagnosed with Simultaneous Multiple Cancers

Won HS, Chang ED, Na SJ, Whang IY, Lee DS, You SH, Kim YS, Kim JS

PTEN hamartoma tumor syndrome is a spectrum of disorders characterized by unique phenotypic features including multiple hamartomas caused by mutations of the tumor suppressor gene PTEN. Cowden syndrome and Bannayan–Riley–Ruvalcaba...
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Founder Mutations for Early Onset Melanoma as Revealed by Whole Exome Sequencing Suggests That This is Not Associated with the Increasing Incidence of Melanoma in Poland

Dębniak T, Scott RJ, Lea RA, Górski B, Masojć B, Cybulski C, Kram A, Maleszka R, Gromowski , Paszkowska-Szczur K, Kashyap A, Lener MR, Malińska , Rogoża E, Murawa D, Rudnicka H, Deptuła J, Lubiński

PURPOSE: Germline mutations within melanoma susceptibility genes are present only in minority of melanoma patients and it is expected that additional genes will be discovered with next generation sequence technology...
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Comparison of Clinical Features and Outcomes in Epithelial Ovarian Cancer according to Tumorigenicity in Patient-Derived Xenograft Models

Eoh KJ, Chung YS, Lee SH, Park SA, Kim HJ, Yang W, Lee IO, Lee JY, Cho H, Chay DB, Kim S, Kim SW, Kim JH, Kim YT, Nam EJ

PURPOSE: Although the use of xenograft models is increasing, few studies have compared the clinical features or outcomes of epithelial ovarian cancer (EOC) patients according to the tumorigenicity of engrafted...
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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...
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Prevalence of germline BRCA mutations among women with carcinoma of the peritoneum or fallopian tube

Choi MC, Bae JS, Jung SG, Park H, Joo WD, Song SH, Lee C, Kim JH, Lee KC, Lee S, Lee JH

OBJECTIVE: The aim of the present study was to assess the frequency of germline mutations in patients with peritoneal carcinoma (PC) or the fallopian tube carcinoma (FTC), using a multi-gene...
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Pediatric High Grade Gliomas in the Context of Cancer Predisposition Syndromes

Michaeli O, Tabori U

Germline mutations in cancer causing genes result in high risk of developing cancer throughout life. These cancer predisposition syndromes (CPS) are especially prevalent in childhood brain tumors and impact both...
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Screening for Lynch syndrome using risk assessment criteria in patients with ovarian cancer

Takeda T, Tsuji K, Banno K, Yanokura M, Kobayashi , Tominaga E, Aoki D

OBJECTIVE: Lynch syndrome is a cancer predisposition syndrome caused by germline mutation of DNA mismatch repair (MMR) genes. Lynch syndrome only causes about 0.4% of cases of ovarian cancer, which...
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Understanding the Molecular Basis of Juvenile Myelomonocytic Leukemia and Its Application for Novel Drugs Development

Jeon IS

To date, hematopoietic stem cell transplantation (HSCT) is the only choice of therapy for most patients with juvenile myelomonocytic leukemia (JMML). Relapse remains a major problem. Approximately 90% of patients...
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Synchronous Bilateral Breast Carcinoma in a Patient with Cowden Syndrome with PTEN Mutation: A Case Report

Kwon SY, Yeo SH, Ha JS, Kang SH

Cowden syndrome (CS), also known as multiple hamartomas syndrome, is a rare hereditary autosomal dominant disorder caused by a germline mutation in the phosphatase and tensin homolog (PTEN) gene mapped...
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Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene

Cho WK, Ahn MB, Jang W, Chae H, Kim M, Suh BK

Most cases of congenital hyperthyroidism are autoimmune forms caused by maternal thyroid stimulating antibodies. Nonautoimmune forms of congenital hyperthyroidism caused by activating mutations of the thyrotropin receptor (TSHR) gene are...
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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...
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The Effect of Reproductive Factors on Breast Cancer Presentation in Women Who Are BRCA Mutation Carrier

Kim JY, Moon HG, Kang YJ, Han W, Noh WC, Jung Y, Moon BI, Kang E, Park SS, Lee MH, Park BY, Lee JW, Noh DY

PURPOSE: Germline mutations in the BRCA1 and BRCA2 genes confer increased risks for breast cancers. However, the clinical presentation of breast cancer among women who are carriers of the BRCA1...
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