Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility

Department of Medical Oncology, University Hospital, Groningen, The Netherlands.
Journal of Medical Genetics (Impact Factor: 6.34). 05/2002; 39(4):225-42.
Source: PubMed


This review focuses on genes other than the high penetrance genes BRCA1 and BRCA2 that are involved in breast cancer susceptibility. The goal of this review is the discovery of polymorphisms that are either associated with breast cancer or that are in strong linkage disequilibrium with breast cancer causing variants. An association with breast cancer at a 5% significance level was found for 13 polymorphisms in 10 genes described in more than one breast cancer study. Our data will help focus on the further analysis of genetic polymorphisms in populations of appropriate size, and especially on the combinations of such polymorphisms. This will facilitate determination of population attributable risks, understanding of gene-gene interactions, and improving estimates of genetic cancer risks.

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Available from: Jan C. Oosterwijk, Oct 05, 2015
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    • "Breast cancer that is usually ductal, but occasionally it is lobular carcinoma, seems to be found in patients with Peutz–Jegher's syndrome with an increased frequency.[24] "
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    ABSTRACT: Peutz-Jeghers syndrome is a rare autosomal dominantly inherited condition, characterized by the presence of hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. Patients with this syndrome can be associated with other neoplasms such as ovarian neoplasms known as sex-cord tumor with annular tubules that are associated in one third of the cases with this syndrome and other types of malignancies. We report a 42-year-old woman with a history of Peutz-Jeghers Syndrome and bilateral breast cancer that presented with abnormal uterine bleeding. Total abdominal hysterectomy with bilateral salpino-oophorectomy was done and an ovarian sex cord tumor with annular tubules was incidentally diagnosed. By reviewing literatures and in agreement with previous studies we suggest routine screening for malignancies in patients with Peutz-Jeghers syndrome.
    03/2013; 2:35. DOI:10.4103/2277-9175.109721
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    • "Inherited mutations in the breast cancer susceptibility gene 1 (BRCA1) [MIM 113705] and breast cancer susceptibility gene 2 (BRCA2) [MIM 600185] are associated with a high risk of developing breast and ovarian cancers in females of different age and ethnic groups. These well-defined high-penetrance genes show loss-of-full function germ line mutations in hereditary cases and decreased expression in sporadic tumors [2] [3] [4]. Approximately, 5 to 10 percent of breast cancer [5] and at least 10 percent of ovarian cancers [6] are hereditary. "
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    ABSTRACT: Introduction. Pakistani population has a very rich anthrogeneological background with waves of migration from neighboring regions. Incidence rates of breast and ovarian cancer in Pakistan are on such a rapid rise that it is necessary to check the contributory factors, genetic and nongenetic. An insight into the prevalence data emphasizes the formulation of a BRCA1 and BRCA2 database for the Pakistani population. Method. In this study conducted by authors, data from diagnosed cases of both sporadic and inherited female breast and ovarian cancer cases was gathered after performing molecular genetic analysis by screening for alterations in the coding sequence of the BRCA gene. The region of interest was analyzed by the aid of various molecular biology tools such as automated DNA sequencer. Bioinformatics software was used to interpret the results, and database was prepared. Results. Mutational screening of the exons in all the samples of our study group did not reveal any pathogenic mutation. These results along with the results of the previous Pakistani studies for both BRCA1 and BRCA2 genes were summed up to prepare a Pakistani database. Percentage involvement of these genes was estimated. Nine percent of these cancers show alterations in BRCA1 gene while 3 percent have shown BRCA2 variants. The remaining 88 percent of breast and ovarian cancers can be attributed to the involvement of other genes.
    Journal of Oncology 03/2011; 2011:632870. DOI:10.1155/2011/632870
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    • "Obesity is also associated with breast cancer risk; estrogen synthesis in adipose tissue is proposed to account for this increase in risk. There is data on the involvement of estrogen receptor in the molecular processes implicated in the rise of breast cancer incidence [10-16]. "
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    ABSTRACT: ER-alpha and ER-beta genes have been proven to play a significant role in breast cancer. Epidemiologic studies have revealed that age-incidence patterns of breast cancer in Middle East differ from those in the Western countries. Two selected coding regions in the ER-beta gene (exons 3 and 7) were scanned in Iranian women with breast cancer (150) and in healthy individuals (147). PCR single-strand conformation polymorphism was performed. A site of silent single nucleotide polymorphism was found only on exon 7. The SNP was found only in breast cancer patients (5.7%) (chi2 = 17.122, P = 0.01). Codon 392 (C1176G) of allele 1 was found to have direct association with the occurrence of lymph node metastasis. Our data suggest that ER-beta polymorphism in exon 7 codon 392 (C1176G) is correlated with various aspects of breast cancer and lymph node metastasis in our group of patients.
    BMC Medical Genetics 07/2010; 11:109. DOI:10.1186/1471-2350-11-109 · 2.08 Impact Factor
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