BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: Relationship to family history and implications for genetic testing

Rubin, Stephen C.; Blackwood, M. Anne; Bandera, Christina A.; Behbakht, Kian; Benjamin, Ivor; Rebbeck, Timothy R.; Boyd, Jeff

doi:10.1016/s0002-9378(98)70476-4

Cited by 167 publications

(102 citation statements)

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“…9,10,12 In Pennsylvania, the frequency of BRCA1 mutations has been reported to be as high as 8.6%. 14 However, in that study the ethnicity of the patients was unknown, whereas in the other American studies Ashkenazi Jews were known not to be overrepresented. 9,10,12,14 BRCA2 mutations have been detected in 0.9 ± 3.1% of American ovarian carcinomas.…”

Section: Resultsmentioning

confidence: 78%

“…9,10,12,14 BRCA2 mutations have been detected in 0.9 ± 3.1% of American ovarian carcinomas. 14,17 In the UK, 3.5% (13/374) of unselected ovarian carcinoma patients were found to be mutation-positive in the screening for BRCA1 mutations. 11 The mutation detection sensitivity was estimated to be 70%, hence the true BRCA1 mutation frequency would be 5%.…”

Section: Resultsmentioning

confidence: 99%

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BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients

et al. 2001

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Germline mutations of BRCA1 and BRCA2 predispose to hereditary breast-ovarian cancer syndrome. In Finland, 20 different BRCA1/2 mutations have been identified, and 13 of them are founder mutations that account for the vast majority of Finnish BRCA1/2 families. The purpose of our study was to determine the prevalence of BRCA1/2 mutations in unselected Finnish ovarian carcinoma patients and to evaluate the relationship between mutation carrier status and personal/family history of cancer. Two hundred and thirtythree patients were screened for all the 20 BRCA1/2 mutations known in the Finnish population. Additionally, a subgroup of patients with personal history of breast cancer and/or family history of breast and/or ovarian cancer was screened for novel BRCA1/2 mutations. Thirteen patients (5.6%) had mutations: eleven in BRCA1 and two in BRCA2. All the mutation-positive patients were carriers of the previously known Finnish BRCA1/2 mutations, and seven recurrent founder mutations accounted for 12 of the 13 mutations detected. A logistic regression analysis was used to determine the odds of mutation for ovarian carcinoma patients. The most significant predictor of a mutation was the presence of both breast and ovarian cancer in the same woman, but family history of breast cancer was also strongly related to mutation carrier status. Although BRCA1/2 mutation testing is not warranted in the general Finnish ovarian cancer patient population, patients who have also been diagnosed with breast cancer or have family history of breast or breast and ovarian cancer could benefit from referral to genetic counselling and mutation testing. European Journal of Human Genetics (2001) 9, 424 ± 430.

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Section: Resultsmentioning

confidence: 78%

Section: Resultsmentioning

confidence: 99%

BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients

et al. 2001

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“…Deleterious germline mutations are found in 8.6-13.7% of ovarian cancer patients (Pal et al 2005;Risch et al 2001;Rubin et al 1998). These mutations cause BRCA1 dysfunction leading to reduced expression of functional BRCA1.…”

Section: Introductionmentioning

confidence: 99%

Carboplatin and taxol resistance develops more rapidly in functional BRCA1 compared to dysfunctional BRCA1 ovarian cancer cells

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O’Leary

et al. 2015

Experimental Cell Research

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“…The lifetime risk of developing ovarian cancer in BRCA1 and BRCA2 carriers is 28-44% [1,2,6,7]. Estimates of the frequency of BRCA1 and BRCA2 germline mutations in ovarian cancer patients have ranged between 2-12% and 2-6% for BRCA1 and BRCA2 mutations, respectively [2,3,[8][9][10][11][12][13][14][15][16][17][18][19][20][21][22].…”

Section: Introductionmentioning

confidence: 99%

Improved survival in BRCA2 carriers with ovarian cancer

et al. 2006

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Objectives-The objective of this study was to investigate survival of ovarian cancer patients with BRCA1 and BRCA2 mutations compared to those without mutations in a population-based sample of incident epithelial ovarian cancer cases. NIH-PA Author Manuscript NIH-PA Author Manuscript NIH-PA Author Manuscript the two analyses were similar, thus data involving the 209 invasive epithelial cancer cases are presented, as this was judged to be more clinically relevant. NIH Public AccessResults-In the multivariate analysis, BRCA status and stage were statistically significant, and were adjusted for in the survival analysis model. The Kaplan-Meier method estimated expected survival at 4 years of 83% of BRCA2 carriers compared to 37% of BRCA1 carriers and 12% of non-carriers. There was a statistically significant difference between BRCA2 carriers and noncarriers (p = 0.013). No statistically significant survival differences were seen for BRCA1 carriers when compared with either BRCA2 carriers or non-carriers.Conclusion-These data suggest that BRCA2 mutation carriers with ovarian cancer may have better survival than BRCA1 carriers and non-carriers. The etiology of this possible survival advantage is currently unknown. Larger studies are needed to confirm these results and to clarify their etiology and clinical significance.

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BRCA1, BRCA2, and hereditary nonpolyposis colorectal cancer gene mutations in an unselected ovarian cancer population: Relationship to family history and implications for genetic testing

Cited by 167 publications

References 10 publications

BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients

BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients

Carboplatin and taxol resistance develops more rapidly in functional BRCA1 compared to dysfunctional BRCA1 ovarian cancer cells

Improved survival in BRCA2 carriers with ovarian cancer

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