• Korean Journal of Adult Nursing
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• v.20 no.6
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• pp.815-828
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• 2008

Purpose: This study was to develop and evaluate the clinical utility of the breast and ovarian cancer genetic counselling program specific for 20 Korean women(KBOCGP). Methods: The KBOCGP was developed using three types of approaches: an ethnography among Korean women who underwent BRCA1/2 test, designing and implementing one week clinical genetic educational course for clinical cancer nurses, educational observation visits to three American cancer genetic counselling programs. And then pre-experimental design was implicated to evaluate the change of the women's knowledge about the hereditary breast and ovarian cancer and the level of the satisfaction with genetic counselling. Results: The mean score of the knowledge has significantly increased from $7.45{\pm}3.86$ to $11.55{\pm}2.21$ (t = 5.63, p < .001). The level of the satisfaction with the counselling was very high ($27.47{\pm}1.35$). Because most of the subjects have young kids, they showed strong concerns about their kids' getting cancer. Conclusion: This new KBOCGP is the satisfactory program for the education and communication of the genetic information to the Korean women with HBOC. But it is needed more to strengthen the cultural sensitivity especially to Korean family relationships. Authors recommend that this program be provided by other nurses who are counselling women at high risk of breast cancer.

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.6-14
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• 2007

• Journal of Genetic Medicine
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• v.4 no.1
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• pp.15-21
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• 2007

Hereditary syndromes cause approximately 5 to 10% of overall cancer cases. Cancer related with genetic syndromes are found elsewhere, including stomach, breast, colorectum, ovary, brain and so on. Because hereditary cancers are due to germline mutations, these patients have unique clinical features distinct from sporadic cancer. Generally these features include (i) early age-of onset of cancer, (ii) frequent association with synchronous or metachronous tumors, (iii) frequent bilateral involvement in paired organs (iv) frequent association with other site tumors or characteristic clinical manifestation specific to each genetic syndrome. Due to these differences, the management strategy for patients with hereditary cancer is quite different from that for sporadic cancer. Additionally, there are important screening and surveillance implications for family members. Genetic counselling is prerequisite to these families for risk assessment by pedigree analysis, and guidance to clinical or genetic testing. The genes responsible for these syndromes has recently identified, as a result, genetic testing has become important determining factor in clinical decisions.

• Asian Oncology Nursing
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• v.12 no.4
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• pp.267-273
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• 2012

Purpose: The purpose of this review article is to introduce how the Korean Society of Genetic Nursing (KSGN) has evolved and tried to translate genomic knowledge to nursing practice, and then to suggest the future role of genetic nurses in Korea. Methods: A literature review was performed and the current status of genetic counselling in Korea was explored. Then the educational and clinical experiences of the authors were incorporated. Finally, the main activities of Korean nursing for genetics were identified. Results: Two types of genetic counsellor certification have been issued in Korea: one is issued by the Korean Society of Genetic Medicine, another by the Korean Society of Breast Cancer since June 2011. A few Korean nursing researchers have continuously performed research related to genetic nursing and undertook several research projects funded by the government since 2003. In February 2011, KSGN was established and is now trying to establish further international networks. Conclusion: Nursing genetic experts should be trained to integrate all specialties for genetic counselling, so they can provide holistic genetic services including ethical, legal, and social issues (ELSI).

• Journal of Interdisciplinary Genomics
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• v.6 no.1
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• pp.1-5
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• 2024

Chromosome 22 is an acrocentric chromosome containing 500-600 genes, representing 1.5%-2% of the total DNA in cells. It was the first human chromosome to be fully sequenced by the Human Genome Project. Several syndromes involving the partial deletion or duplication of chromosome 22 are well descibed, including 22q11.2 deletion syndrome, 22q11.2 duplication syndrome, 22q11.2 distal deletion syndrome, Phelan-McDermid syndrome caused by a 22q13 deletion or pathogenic variant in SHANK3, and cat-eye syndrome caused by a 22 pter-q11 duplication. This review aims to provide concise information on the clinical characteristics of these syndromes. In particular, the similarities in features among these syndromes, genetic basis, and standard detection techniques are described, providing guidance for diagnosis and genetic counselling.

• Journal of Chest Surgery
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• v.25 no.3
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• pp.321-324
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• 1992

Poland`s syndrome is very rare anomaly and typified by absence of the pectoralis major, absence or hypoplasia of the pectoralisminor, absence of costal cartilage, hypoplasia of breast and subcutaneous tissue, and brachysyndactyly. The clinical features are variable but all patients have absence of at least the sternal head of the pectoralis major muscle. The syndrome is not hereditary and is of unknown origin. Early recognition of Poland`s syndrome may give the provision of psychologic and genetic counselling for anxious parents. We have encountered a patient with this entity, and underwent successful correction.

• Journal of Genetic Medicine
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• v.19 no.1
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• pp.14-21
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• 2022

Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.2
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• pp.723-726
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• 2013

Background: Breast cancer is worldwide the most common cancer in women and is a major public health problem. Genes with high or low penetrance are now clearly implicated in the onset of breast cancer, mostly the BRCA genes. All women in families at high risk of breast cancer do not develop tumours, even when they carry the familial mutation, suggesting the existence of genetic and environmental protective factors. Several studies have shown that consanguinity is linked to a decreased or an increased risk of breast cancer, but to the best of our knowledge, there is no study concerning the association between consanguinity and the occurrence of tumours in women with high risk of breast cancer. The objective of this study was to examine whether parental consanguinity in families with genetic predisposition to breast cancer affect the risk of siblings for having this cancer. Materials and Methods: Over a six-year period, 72 different patients with a histological diagnosis of breast or ovarian cancer from 42 families were recruited for genetic counselling to the Department of Medical Genetics, Rabat. Consanguinity rate was determined in cases and compared to the consanguinity rate in the Moroccan general population. Results: Consanguinity rates were 9.72% in patients and 15.3% in controls, but the difference was statistically not significant (p>0.001) and the mean coefficient of consanguinity was lower in breast cancer patients (0.0034) than in controls (0.0065). Conclusions: Despite the relatively small sample size of the current study, our results suggest that parental consanguinity in Moroccan women might not be associated with an altered risk of breast cancer. Large scale studies should be carried out to confirm our results and to develop public health programs.

• The Journal of the Korean life insurance medical association
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• v.12
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• pp.50-55
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• 1993

After a short historical resume, screening is discussed on the basis of the current philosophy of Life insurance compaines in leading countries. This is followed by considerations with regard to the future in areas of major bearing on Life insurance screening which have emerged as important within the last decade. HIV-antibody testing is dealt with from the screening point of view followed by aspects regarding the applicability of tumour marker use in Life insurance medicine. Last but not least genetic testing will be addressed, taking into account prospects for the future, as well as the resulting responsibility in medical and underwriting terms. The major considerations and suggested guidelines can be summarized as follows: 1) Screening in Life insurance is a prerequisite for underwriting and is a well-functioning selection instrument. 2) Screening technologies are medically well defined and have to follow general clinical rules, also in the future. 3) Screening parameters should follow the patterns of diseases according to age and risk groups. 4) Screening parameters for prognostic use are legitimate as long as they are considered in conjuction with clinical medical observations and rules. 5) Screening technologies of a sensitive nature require very special rules for handling in the sense of "consequential ethies". 6) Screening parameters like HIV-antibody testing require ongoing scientific feedback in their new testing dimensions. 7) Screening in the form of genetic testing is as yet not used in Life insurance; its potential future role in Life insurfance medicine must, however, be discussed responsibly and in time. 8) Screening enables the insurance industry to rule out possible antiselection and provide for equal knowledge on the part of the insurance applicant and the insurer about impairements which shorten life expectancy. 9) Screening, informed consent, counselling and confidentiality must go hand in hand both now and to an even greater extent in the future.

• Clinical and Experimental Reproductive Medicine
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• v.29 no.4
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• pp.303-310
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• 2002

Objective s: To estimate the frequency of Y chromosome microdeletions in the Korean population of infertile men and to evaluate the relationship between microdeletion on the Y chromosome and clinical phenotypes of infertile men with idiopathic azoospermia and oligozoospermia. Materials and Methods: Genomic DNA was extracted from blood samples collected from 330 infertile men attending the Infertility Clinic at Samsung Cheil Hospital, Korea. Six sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified by polymerase chain reactions (PCRs). Results: Microdeletions on Y chromosome were detected in 35 (10.6%) of the 330 infertile men. Most of the microdeletions (91.4%) involved AZFb or AZFc. The high incidence of microdeletions were found in AZFc region (57.1%), but the low in AZFa (8.6%) and AZFb (5.7%). Larger microdeletions involving two or three AZF regions were detected in 28.6% of cases. All patients (6 patients) with deletion of AZFa region showed no germ cell phenotypes, Sertoli cell only syndrome or Leydig cell hyperplasia in histopathologic examinations. Conclusion: Microdeletions on the Y chromosome, especially, at AZFc/DAZ regions may be the major cause of azoospermia and severe oligozoospermia. We suggest that idiopathic infertile men have genetic counselling and microdeletion analysis on the Y chromosome before IVF-ET and ART program.