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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 6 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 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.
Gynecomastia
ERBB2 KRT19 KRT7
Breast Breast Neoplasms, Male Homo sapiens Male Pancreatic Neoplasm X-Ray Computed Tomography
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
Adult BRCA1 Protein Biomarkers, Tumor Females Genetic Predisposition to Disease Germ-Line Mutation Homo sapiens Hysterectomy Peritoneal Neoplasms Salpingo-oophorectomy Uterine Cervical Neoplasm
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.
Pleural effusion
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
Carcinoma Females Germ-Line Mutation Homo sapiens Middle Aged Uterine Neoplasms
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.
Neoplasm
Adult Females Hamartoma Syndrome, Multiple Homo sapiens Mammography Middle Aged Noninfiltrating Intraductal Carcinoma
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 Protein Fallopian Tube Neoplasms Females Genetic Predisposition to Disease Germ-Line Mutation Homo sapiens Middle Aged Serous Cystadenocarcinoma
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0011027 Abnormality of the fallopian tube Very frequent (99-80%)
HP:0030406 Primary peritoneal carcinoma Very frequent (99-80%)
HP:0100615 Ovarian neoplasm Very frequent (99-80%)
HP:0003002 Breast carcinoma Frequent (79-30%)
HP:0002861 Melanoma Occasional (29-5%)
HP:0002894 Neoplasm of the pancreas Occasional (29-5%)
HP:0012125 Prostate cancer Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0030731 Carcinoma 3


Causative gene(s) retrieved from Orphanet

    Total: 14

Gene Symbol Gene Name 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