| Item type |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2025-04-01 |
| タイトル |
|
|
タイトル |
Problems and Solutions in Medical Genetics for Sharing Information among Relatives in Families with Hereditary Breast and Ovarian Cancer |
|
言語 |
en |
| 言語 |
|
|
言語 |
eng |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
hereditary breast and ovarian cancer (HBOC) |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
BRCA1 |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
BRCA2 |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
genetic counseling |
| キーワード |
|
|
言語 |
en |
|
主題Scheme |
Other |
|
主題 |
family support |
| 資源タイプ |
|
|
資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
|
資源タイプ |
journal article |
| ID登録 |
|
|
ID登録 |
10.57457/0002000222 |
|
ID登録タイプ |
JaLC |
| 著者 |
山谷 美里
和田 都
新井田 要
井口 雅史
森岡 絵美
羽場 祐介
久野 真知子
高倉 正博
柴田 健雄
|
| 著者（英） |
|
|
|
姓名 |
Misato Yamaya |
|
|
言語 |
en |
| 著者（英） |
|
|
|
姓名 |
Miyako Wada |
|
|
言語 |
en |
| 著者（英） |
|
|
|
姓名 |
Yo Niida |
|
|
言語 |
en |
| 著者（英） |
|
|
|
姓名 |
Masafumi Inokuchi |
|
|
言語 |
en |
| 著者（英） |
|
|
|
姓名 |
Emi Morioka |
|
|
言語 |
en |
| 著者（英） |
|
|
|
姓名 |
Yusuke Haba |
|
|
言語 |
en |
| 著者（英） |
|
|
|
姓名 |
Machiko Hisano |
|
|
言語 |
en |
| 著者（英） |
|
|
|
姓名 |
Masahiro Takakura |
|
|
言語 |
en |
| 著者（英） |
|
|
|
姓名 |
Takeo Shibata |
|
|
言語 |
en |
| 抄録 |
|
|
内容記述タイプ |
Abstract |
|
内容記述 |
Cases: The first case was that of a man in his 30s who visited us for genetic testing 3 years after his mother was diagnosed with HBOC. His visit coincided with his mother’s cancer recurrence. Genetic testing revealed that he had the same BRCA2 pathogenic variant as his mother. As a result, he was educated about male breast cancer and provided with information about prostate cancer surveillance. The second case was a man in his 40s who presented to our clinic a few weeks after his brother was diagnosed with HBOC. Genetic testing revealed the same BRCA2 pathogenic variant as his brother, and prostate cancer surveillance was initiated. However, communicating the genetic risk of cancer to his estranged daughters remained a challenge.
Discussion: To support at-risk relatives, genetic information needs to be shared within the HBOC family. To achieve this, not only the proband have easy access to the genetics department and a proper understanding of the genetics aspect of HBOC, but also cancer care departments need to provide a follow-up system including genetic education and genetic information services. Also, family letters by nonphysician genetic specialists can be used to further facilitate genetic risk communication within families.
Conclusion: Relatives of HBOC family members are increasingly being diagnosed with genetic testing before they develop cancer, leading to appropriate surveillance. However, the burden on the patient to share information among family members is significant, and each relative has a different perspective on genetic diseases. Future medical practice activities for nonphysician genetic specialists are expected. |
|
言語 |
en |
| bibliographic_information |
ja : 金沢医科大学雑誌
巻 50,
号 1,
p. 31-35,
発行日 2025-03
|
| 出版者 |
|
|
出版者 |
金沢医科大学医学会 |
|
言語 |
ja |
| item_10001_source_id_9 |
|
|
収録物識別子タイプ |
EISSN |
|
収録物識別子 |
24366994 |
| 出版タイプ |
|
|
出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
本文 (745 KB)
