婦人科腫瘍遺伝カウンセリングマニュアル　改訂2版

出版社： 中外医学社
著者：
発行日： 2024-04-25
分野： 臨床医学：外科  >  産婦人科学
ISBN： 9784498060876
電子書籍版： 2024-04-25 （2版1刷）
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商品紹介

婦人科腫瘍診療を効果的に行うには臨床遺伝の知識が必須！
妊娠時に発見される固形腫瘍で最多の子宮頸癌を正しく診断・治療するための1冊．
妊娠中の細胞診・コルポスコピー・病理組織診断の留意点，MRI/PET-MRIによる画像診断，妊娠中の広汎子宮頸部摘出術の麻酔・手技の実際・周産期管理をエキスパートが解説．治療法の選択にも実際の治療にも難渋する妊娠合併子宮頸癌診療を習得し，患者と子を救う！

目次

  • 1　総論
    　A　染色体と遺伝子について・遺伝の基本
    　B　婦人科遺伝性腫瘍総論
    　C　家族歴とリスク評価
    　　COLUMN　ポリジェニックリスクスコア
    　D　遺伝学的検査（単一遺伝子検査，MGPT，全エクソーム解析，全ゲノム解析）
    　E　遺伝情報の取り扱い
    　F　遺伝性腫瘍と薬剤感受性
    　G　がん遺伝子パネル検査
    　H　生殖細胞系列バリアントの解釈とVUSの取り扱い
    　　COLUMN　ゲノムビックデータとデータシェアリング
    　
    2　遺伝性乳がん卵巣がん症候群
    　A　遺伝性卵巣がんの臨床的・病理学的特徴　
    　B　婦人科でのサーベイランス
    　C　リスク低減卵管卵巣摘出術（RRSO）と病理学的検査
    　D　RRSO後の女性ヘルスケア
    　E　BRCA関連乳がんの臨床的特徴・病理的特徴
    　F　リスク低減乳房切除術（RRM）と乳房サーベイランス
    　G　遺伝性乳がん卵巣がん症候群と前立腺がん
    　H　遺伝性乳がん卵巣がん症候群と膵がん

    3　Lynch症候群

    4　PTEN過誤腫症候群

    5　Peutz—Jeghers症候群

    6　他の遺伝性婦人科腫瘍関連遺伝子（RAD51C，RAD51D，PALB2，ATMなど）
    　COLUMN　国内外におけるPGT—Mの現状と課題

    索引

    付録　遺伝カウンセリング資料

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本参考文献は電子書籍掲載内容を元にしております。

(1) 総論

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(2) 遺伝性乳がん卵巣がん症候群

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(3) Lynch症候群

P.84 掲載の参考文献
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13) Berek JS, Matias-Guiu X, Creutzberg C, et al ; Endometrial Cancer Staging Subcommittee, FIGO Women's Cancer Committee. FIGO staging of endometrial cancer : 2023. Int J Gynaecol Obstet. 2023 ; 162 : 383-94.
PubMed

(4) PTEN過誤腫症候群

P.88 掲載の参考文献
1) Pilarski R. Cowden syndrome : a critical review of the clinical literature. J Genet Couns. 2009 ; 18 : 13-27.
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PubMed

(5) Peutz - Jeghers症候群

P.91 掲載の参考文献
1) Peutz JLA. Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane. Nederl Maandschr Geneesk. 1921 ; 10 : 134-46.
 
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PubMed
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PubMed
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PubMed
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10) Ueki A, Kisu I, Banno K, et al. Gynecological tumors in patients with Peutz-Jeghers syndrome (PJS). Open Journal of Genetics. 2011 ; 1 : 65-9.
 
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13) Kobayashi Y, Masuda K, Kimura T, et al. A tumor of the uterine cervix with a complex histology in a Peutz-Jeghers syndrome patient with genomic deletion of the STK11 exon 1 region. Future Oncol. 2014 ; 10 : 171-7.
 

(6) 他の遺伝性婦人科腫瘍関連遺伝子 ( RAD51C, RAD51D, PALB2, ATMなど )

P.95 掲載の参考文献
1) Kurian AW, Ward KC, Howlader N, et al. Genetic testing and results in a population-based cohort of breast cancer patients and ovarian cancer patients. J Clin Oncol. 2019 ; 37 : 1305-15.
 
2) NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines(R)), Genetic/Familial High-Risk Assessment : Breast, Ovarian, and Pancreatic. Version 3. 2023
 
3) Gonzalez KD, Noltner KA, Buzin CH, et al. Beyond Li Fraumeni syndrome : clinical characteristics of families with p53 germline mutations. J Clin Oncol. 2009 ; 27 : 1250-6.
PubMed
4) Lalloo F, Varley J, Moran A, et al. BRCA1, BRCA2 and TP53 mutations in very early-onset breast cancer with associated risks to relatives. Eur J Cancer. 2006 ; 42 : 1143-50.
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5) McCuaig JM, Armel SR, Novokmet A, et al. TP53 testing for breast cancer under age 30 : ready for prime time? Fam Cancer. 2012 ; 11 : 607-13.
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6) Mouchawar J, Korch C, Byers T, et al. Population-based estimate of the contribution of TP53 mutations to subgroups of early-onset breast cancer : Australian Breast Cancer Family Study. Cancer Res. 2010 ; 70 : 4795-800.
PubMed
7) Schultz KAP, Williams GM, Kamihara J, et al. DICER1 and associated conditions : identification of at-risk individuals and recommended surveillance strategies. Clin Cancer Res. 2018 ; 24 : 2251-61.
PubMed
8) Stewart DR, Best AF, Williams GM, et al. Neoplasm risk among individuals with a pathogenic germline variant in DICER1. J Clin Oncol. 2019 ; 37 : 668-76.
PubMed
9) Toro JR, Nickerson ML, Wei MH, et al. Mutations in the fumarate hydratase gene cause hereditary leiomyomatosis and renal cell cancer in families in North America. Am J Hum Genet. 2003 ; 73 : 95-106.
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10) Smit DL, Mensenkamp AR, Badeloe S, et al. Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genet. 2011 ; 79 : 49-59.
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11) Muller M, Ferlicot S, Guillaud-Bataille M, et al. Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. Clin Genet. 2017 ; 92 : 606-15.
 
12) Scharnitz T, Nakamura M, Koeppe E, et al. The spectrum of clinical and genetic findings in hereditary leiomyomatosis and renal cell cancer (HLRCC) with relevance to patient outcomes : a retrospective study from a large academic tertiary referral center. Am J Cancer Res. 2023 ; 13 : 236-44.
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P.99 掲載の参考文献
1) 日本産科婦人科学会. 「PGT-M に関する倫理審議会」最終報告, 参考資料, ご意見. https://www.jsog.or.jp/modules/committee/index.php?content_id=178
 
2) 安井一徳. 諸外国における出生前診断・着床前診断に対する法的規制について. 調査と情報 ISSUE BRIEF. 2013 ; 779 : 1-11
 
3) 三輪和宏, 林かおり. イギリスとフランスの生殖補助医療の制度. レファレンス. 2016 ; 788 : 29-51.
 
4) 三輪和宏, 林かおり. ドイツとイタリアの生殖補助医療の制度. レファレンス. 2017 ; 792 : 33-59.
 
5) 国立国会図書館. 外国の立法. https://www.ndl.go.jp/jp/diet/publication/legis/index.html
 
6) NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines(R)). Genetic/Familial High-Risk Assessment : Breast, Ovarian, and Pancreatic Version 3. MS-10, 2023.
 
7) 日本遺伝性乳がん卵巣がん総合診療制度機構 (Japanese Organization of Hereditary Breast and Ovarian Cancer : JOHBOC), 編, 遺伝性乳がん卵巣がん (HBOC) 診療ガイドライン (2021年版), 遺伝BQ10生殖に関する遺伝カウンセリングにはどのように対応するべきか? https://johboc.jp/guidebook_2021/
 
8) Spinella F, Bronet F, Carvalho F, et al. ESHRE PGT Consortium data collection XXI : PGT analyses in 2018. Hum Reprod Open. 2023 ; 2023 : hoad010.
PubMed
9) 日本学術会議, 提言 倫理的課題を有する着床前遺伝学的検査 (PGT) の適切な運用のための公的プラットフォームの設置-遺伝性疾患を対象とした着床前遺伝学的検査 (PGT-M) への対応を中心に- https://www.scj.go.jp/ja/info/kohyo/pdf/kohyo-25-t351-2.pdf
 

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