Hereditary breast and ovarian cancer syndrome

Breast cancer (BC) is the most common cancer in women, accounting for 25% of all new cases of cancer. Most BC cases are sporadic, while 5-10% are estimated to be due to an inherited predisposition.



患者の 徴候症状 を入力


症例報告を絞り込む



合計: 6 (症例報告)

  


(表示件数)
対応する徴候・症状  遺伝子  変異  キーワード(MeSH)
順位
(類似度)
PMID
(PMCID)
1
(4.0%)
30692377
[A Case of Male Breast Cancer Suspected of Breast Metastasis from Pancreatic Cancer].
Takada K, Kashiwagi S, Amano R, Goto W, Asano Y, Ohira G, Yamazoe S, Kimura K, Noda S, Takashima T, Onoda N, Hirakawa K, Ohira M.
Gan To Kagaku Ryoho. 2018;45(13):1857-1859.
女性型乳房
ERBB2 KRT19 KRT7
X線コンピュータ断層撮影 ヒト 乳房 男性乳癌 膵腫瘍
1
(4.0%)
29094253
Peritoneal cancer arising after total abdominal hysterectomy and bilateral salpingo-oophorectomy for cervical cancer in a patient with right breast cancer and germline mutation of BRCA1 gene: a case report and literature review.
Harao M, Ando J, Kamata H, Hoshi N, Igarashi S, Sekiguchi R, Sugano K.
Breast Cancer. 2018;25(2):243-249.
Carcinoma
BRCA1 BRCA2
BRCA1タンパク質 ヒト 卵管卵巣摘出術 子宮摘出術 子宮頸癌 成人 生殖細胞系列変異 疾患の遺伝的素因 腫瘍マーカー 腹膜腫瘍
1
(4.0%)
28706762
(5507666)
Metastatic Breast Cancer with BRCA Mutation Discovered By Next-Generation Sequencing Responding to Olaparib.
Rizvi W, Truong P, Truong Q.
Cureus. 2017;9(6):e1337.
胸膜滲出液
BRCA1 BRCA2
1
(4.0%)
28049106
Linking uterine serous carcinoma to BRCA1/2-associated cancer syndrome: A meta-analysis and case report.
de Jonge MM, Mooyaart AL, Vreeswijk MP, de Kroon CD, van Wezel T, van Asperen CJ, Smit VT, Dekkers OM, Bosse T.
Eur J Cancer. 2017;72:215-225.
Carcinoma
ヒト 中年 子宮癌 生殖細胞系列変異 癌腫
1
(4.0%)
27886412
Cowden Syndrome: Serendipitous Diagnosis in Patients with Significant Breast Disease. Case Series and Literature Review.
Heaney RM, Farrell M, Stokes M, Gorey T, Murray D.
Breast J. 2017;23(1):90-94.
新生物
ヒト 中年 乳房X線撮影 乳管内上皮内癌 多発性過誤腫症候群 成人
1
(4.0%)
24719479
Serous tubal intraepithelial carcinoma in a Japanese woman with a deleterious BRCA1 mutation.
Ishikawa H, Kiyokawa T, Utsuno E, Matsushita K, Nomura F, Shozu M.
Jpn J Clin Oncol. 2014;44(6):597-601.
Carcinoma
BRCA1 BRCA2
p|SUB|E|1214|X;RS#:80356923 rs80356923
Asians BRCA1タンパク質 ヒト 中年 卵管腫瘍 漿液性嚢胞腺癌 生殖細胞系列変異 疾患の遺伝的素因
        

徴候・症状リスト(Orphanetデータベースから取得)

    合計: 7

HPO ID 徴候・症状 頻度
HP:0011027 卵管異常 Very frequent (99-80%)
HP:0030406 Primary peritoneal carcinoma Very frequent (99-80%)
HP:0100615 卵巣新生物 Very frequent (99-80%)
HP:0003002 乳房癌 Frequent (79-30%)
HP:0002861 黒色腫 Occasional (29-5%)
HP:0002894 膵新生物 Occasional (29-5%)
HP:0012125 前立腺癌 Occasional (29-5%)


徴候・症状リスト(症例報告から取得)

    合計: 1

HPO ID 徴候・症状 症例報告数
HP:0030731 Carcinoma 3


疾患原因遺伝子リスト(Orphanetデータベースから取得)

    合計: 14

Gene Symbol 遺伝子名 Entrez Gene ID
PTEN phosphatase and tensin homolog 5728
RAD51 RAD51 recombinase 5888
BRCA1 BRCA1 DNA repair associated 672
BRCA2 BRCA2 DNA repair associated 675
BRIP1 BRCA1 interacting protein C-terminal helicase 1 83990
CHEK2 checkpoint kinase 2 11200
TP53 tumor protein p53 7157
MRE11 MRE11 homolog, double strand break repair nuclease 4361
NBN nibrin 4683
PALB2 partner and localizer of BRCA2 79728
BARD1 BRCA1 associated RING domain 1 580
RAD51C RAD51 paralog C 5889
RAD50 RAD50 double strand break repair protein 10111
RAD51D RAD51 paralog D 5892