BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 GeneticVariation disease BEFREE Among 41 women who underwent RRSO, 2 BRCA1 carriers developed a PPC (4.9%). 28848147 2017
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 GeneticVariation disease BEFREE To assess the clinical value of peritoneal washing cytology (PWC) in women with BRCA1 or BRCA2 mutations and women from a family with hereditary breast and/or ovarian cancer (HBOC) undergoing risk-reducing salpingo-oophorectomy (RRSO) in detecting primary peritoneal cancer (PPC) or occult ovarian/fallopian tube cancer. 26768420 2016
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 GeneticVariation disease BEFREE BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer. 26439132 2016
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 GeneticVariation disease BEFREE From 2004 to 2009, women undergoing surgical staging for nonmucinous epithelial ovarian carcinoma, including fallopian tube and primary peritoneal carcinoma, were invited to participate in tumor banking and genetic counseling for BRCA1 and BRCA2 mutations. 22776961 2012
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 GeneticVariation disease BEFREE This study immunohistochemically evaluated (by Ki-67 and p53 staining) the presence of p53 signature, TILT lesions, and STIC in 14 consecutive cases of prophylactic salpingo-oophorectomy in women with BRCA-1/2 mutation (bilateral salpingo-oophorectomy), 11 cases of macroscopically inconspicuous adnexae of patients with primary contralateral tubal cancer (TC), 9 cases of primary peritoneal cancer (PPC), and 10 cases of serous ovarian borderline tumors, evaluating the fallopian tubes (using the Sectioning and Extensively Examining the FIMbria protocol), ovarian surface epithelium, and ovarian cortical inclusion cysts. 21804388 2011
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 SusceptibilityMutation disease ORPHANET Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311 2011
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 GeneticVariation disease BEFREE Seventy-nine patients with EOC/PPC and germline BRCA1/2 mutations were identified. 20406939 2010
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 GeneticVariation disease BEFREE Women with mutations in BRCA1 or BRCA2 are at tremendously increased lifetime risk of both breast and BRCA-associated gynecologic (ovarian, fallopian tube, and primary peritoneal) cancer. 17617523 2007
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 GeneticVariation disease BEFREE To estimate the incidence of ovarian, fallopian tube, and primary peritoneal cancer in women who carry a deleterious mutation in BRCA1 or BRCA2. 16835424 2006
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 GeneticVariation disease BEFREE We hypothesized that older age and having a BRCA1 mutation would be predictors for tubal or ovarian neoplasia and that a careful surgical and pathologic protocol would lead to a low rate of subsequent primary peritoneal cancer. 16731090 2006
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 GeneticVariation disease BEFREE The similar frequency distribution of BRCA1/2 mutations in PPC and OvC observed in the present study indicates that these mutations may predispose to PPC as well and that this neoplasm is part of the hereditary breast-ovarian cancer syndrome. 12504628 2003
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 GeneticVariation disease BEFREE Other cancers of interest that appeared in the BRCA1-linked families included primary peritoneal cancer, cancer of the fallopian tube, and malignant melanoma. 7759076 1995
CUI: C1514428
Disease: Primary peritoneal carcinoma
Primary peritoneal carcinoma
0.500 Biomarker disease HPO