One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations

Malander, Susanne; Ridderheim, Mona; Måsbäck, Anna; Loman, Niklas; Kristoffersson, Ulf; Olsson, Håkan; Nilbert, Mef; Borg, Åke

doi:10.1016/j.ejca.2003.09.016

Cited by 85 publications

(77 citation statements)

References 26 publications

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“…These include cancers of the colon, prostate, thyroid, gallbladder, cervix uteri, and ovary, as well as Hodgkin's disease, and non-Hodgkin lymphoma [4,15,23,30,31]. The underlying mechanisms that link breast cancer and non-breast cancers in families are currently unclear.…”

Section: Discussionmentioning

confidence: 99%

Family history of malignancies and risk of breast cancer: prospective data from the Shanghai women’s health study

Kilfoy

Zhang

Shu

et al. 2008

Cancer Causes Control

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A population-based cohort study was conducted in Shanghai, China, to investigate the relationship between family cancer history in first-degree relatives and risk of breast cancer. A total of 570 newly diagnosed breast cancer patients were identified from the cohort of 73,222 women during the follow-up period. Breast cancer risk was elevated (RR = 1.74, 95% CI: 1.10-2.73) for those with a family history of breast cancer and the risk was stronger for women who were younger than 55 years (RR = 2.07, 95% CI: 1.17-3.64). In addition, a significantly increased risk was observed for women with a family history of leukemia (RR = 2.06; 95% CI: 1.02-4.15) and among younger women, those who reported having a family history of any cancer (RR = 1.41, 95% CI: 1.10-1.82), lung cancer (RR = 1.72, 95% CI: 1.12-2.65), and esophageal cancer (RR = 2.99, 95% CI: 1.62-5.51). This cohort study suggests that, as previously observed in high risk populations, family history plays an important role in breast cancer also in a low risk population. The link between breast cancer risk and family history of cancers of the lung and esophagus, as well as leukemia, warrants further investigation.

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Section: Discussionmentioning

confidence: 99%

Family history of malignancies and risk of breast cancer: prospective data from the Shanghai women’s health study

Kilfoy

Zhang

Shu

et al. 2008

Cancer Causes Control

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“…The median age at diagnosis was 60 years in the sporadic subset, 57 years in the BRCA1 subset and 47 years in the HNPCC subset. The 24 sporadic tumors were obtained from a population based consecutive series of ovarian cancers, in which mutations in BRCA1 and BRCA2 had been excluded through mutation analysis and retained MMR function had been demonstrated using immunostaining against the MLH1, PMS2, MSH2 and MSH6 proteins (13,14). All BRCA1 mutations were classified as disease predisposing and were available from a population based consecutive series of ovarian cancers.…”

Section: Methodsmentioning

confidence: 99%

“…However, identification of these cases is challenging and a substantial number of individuals with hereditary ovarian cancer escape detection (12,13). We applied high resolution array based comparative genomic hybridization (aCGH) to HBOC and HNPCC associated ovarian cancer with sporadic ovarian cancers as a control group, and demonstrated distinct genetic profiles linked to the underlying type of heredity.…”

Section: Introductionmentioning

confidence: 99%

Genetic profiles distinguish different types of hereditary ovarian cancer

Domanska

Malander²,

Staaf³

et al. 2010

Oncol Rep

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Abstract. Heredity represents the strongest risk factor for ovarian cancer with disease predisposing mutations identified in 15% of the tumors. With the aim to identify genetic classifiers for hereditary ovarian cancer, we profiled hereditary ovarian cancers linked to the hereditary breast and ovarian cancer (HBOC) syndrome and the hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Genome-wide array comparative genomic hybridization was applied to 12 HBOC associated tumors with BRCA1 mutations and 8 HNPCC associated tumors with mismatch repair gene mutations with 24 sporadic ovarian cancers as a control group. Unsupervised cluster analysis identified two distinct subgroups related to genetic complexity. Sporadic and HBOC associated tumors had complex genetic profiles with an average 41% of the genome altered, whereas the mismatch repair defective tumors had stable genetic profiles, with an average 18% of the genome altered. Losses of 4q34, 13q12-q32 and 19p13 were overrepresented in the HBOC subset. Discriminating genes within these regions include BRCA2, FOXO1A and RB1. Gains on chromosomes 17 and 19 characterized the HNPCC tumors, but target genes herein are unknown. The results indicate that HBOC and HNPCC associated ovarian cancer develop along distinct genetic pathways and genetic profiles can thus be applied to distinguish between different types of hereditary ovarian cancer.

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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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One in 10 ovarian cancer patients carry germ line BRCA1 or BRCA2 mutations

Cited by 85 publications

References 26 publications

Family history of malignancies and risk of breast cancer: prospective data from the Shanghai women’s health study

Family history of malignancies and risk of breast cancer: prospective data from the Shanghai women’s health study

Genetic profiles distinguish different types of hereditary ovarian cancer

Improved survival in BRCA2 carriers with ovarian cancer

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