TITLE

CYP17 promoter polymorphism and breast cancer in Australian women under age forty years

AUTHOR(S)
Spurdle, Amanda B.; Hopper, John L.; Spurdle, A B; Hopper, J L; Dite, G S; Chen, X; Cui, J; McCredie, M R; Giles, G G; Southey, M C; Venter, D J; Easton, D F; Chenevix-Trench, G
PUB. DATE
October 2000
SOURCE
JNCI: Journal of the National Cancer Institute;10/18/2000, Vol. 92 Issue 20, p1674
SOURCE TYPE
Academic Journal
DOC. TYPE
journal article
ABSTRACT
Background: The cytochrome P450c17alpha enzyme functions in the steroid biosynthesis pathway, and altered endogenous steroid hormone levels have been reported to be associated with a T to C polymorphism in the 5' promoter region of the CYP17 gene. Because steroid hormone exposure is known to influence breast cancer risk, we conducted a population-based, case-control-family study to assess the relationship between the CYP17 promoter polymorphism and early-onset breast cancer.Methods: Case subjects under 40 years of age at diagnosis of a first primary breast cancer, population-sampled control subjects, and the relatives of both case and control subjects were interviewed to record family history of breast cancer and other risk factors. CYP17 genotype was determined in 369 case subjects, 284 control subjects, and 91 relatives of case subjects. Genotype distributions were compared by logistic regression, and cumulative risk was estimated by a modified segregation analysis. All statistical tests were two-tailed.Results: Compared with the TT genotype (i.e., individuals homozygous for the T allele), the TC genotype was not associated with increased breast cancer risk (P: =.7). Compared with the TT and TC genotypes combined, the CC genotype was associated with a relative risk of 1. 81 (95% confidence interval [CI] = 1.15-2.86; P: =.01) before adjustment for measured risk factors and 1.63 (95% CI = 1.00-2.64; P: =.05) after adjustment. There was an excess of CC genotypes in case subjects who had at least one affected first- or second-degree relative, compared with control subjects unstratified by family history of breast cancer (23% versus 11%; P: =.006), and these case subjects had a threefold to fourfold higher risk than women of other groups defined by genotype and family history of breast cancer. Analysis of breast cancer in first- and second-degree relatives of case subjects with the CC genotype, excluding two known carriers of a deleterious mutation in BRCA1 or BRCA2, gave a relative hazard in women with the CC genotype of 3.48 (95% CI = 1.13-10.74; P: =.04), which is equivalent to a cumulative risk of 16% to age 70 years.Conclusions: The CC genotype may modify the effect of other familial risk factors for early-onset breast cancer.
ACCESSION #
3942412

 

Related Articles

  • The relationship between CYP17 -34T/C polymorphism and acne in Chinese subjects revealed by sequencing. He, Li; Yang, Zhi; Yu, Haijing; Cheng, Baoweng; Tang, Wenru; Dong, Yongli; Xiao, Chunjie // Dermatology (10188665);Jun2006, Vol. 212 Issue 4, p338 

    Background: Although many arguments have been raised on the role of heredity in the etiology of acne, the relevant genetic elements in the pathogenesis of the disease are not well established.Objective: The aim of our study was to evaluate the association between a...

  • PTPN11 mutations in childhood acute lymphoblastic leukemia occur as a secondary event associated with high hyperdiploidy. Molteni, C. G.; te Kronnie, G.; Bicciato, S.; Villa, T.; Tartaglia, M.; Basso, G.; Biondi, A.; Cazzaniga, G. // Leukemia (08876924);Jan2010, Vol. 24 Issue 1, p232 

    A letter to the editor is presented that discusses PTPN11 mutations in childhood acute lymphoblastic leukemia which is stated to be the event associated with high hyperdiploidy.

  • Mutational analysis of the PTEN/MMAC1 gene in non-Hodgkin's lymphoma. Nakahara, Y; Nagai, H; Kinoshita, T; Uchida, T; Hatano, S; Murate, T; Saito, H // Leukemia (08876924);Aug98, Vol. 12 Issue 8, p1277 

    The PTEN/MMAC1 gene at 10q23.3, which has dual specific phosphatase activity, is a novel tumor suppressor gene candidate. Various kinds of tumors have mutations in this gene, including glioblastoma, endometrial carcinoma and prostate cancer. We examined 29 cases of primary non-Hodgkin's lymphoma...

  • A case of late onset sporadic Parkinson's disease with an A53T mutation in alpha-synuclein. Michell, A. W.; Barker, R. A.; Raha-Chowdhury, R.; Raha, S. K. // Journal of Neurology, Neurosurgery & Psychiatry;Apr2005, Vol. 76 Issue 4, p596 

    Presents a letter to the editor about Parkinson's disease, appeared in the April 2005 issue of the "Journal of Neurology, Neurosurgery & Psychiatry."

  • Investigation of two Wnt signalling pathway single nucleotide polymorphisms in a breast cancer-affected Australian population. Gabrovska, Plamena N.; Smith, Robert A.; Haupt, Larisa M.; Griffiths, Lyn R. // Twin Research & Human Genetics;Dec2011, Vol. 14 Issue 6, p562 

    In the mammary gland, Wnt signals are strongly implicated in initial development of the mammary rudiments and in the ductal branching and alveolar morphogenesis that occurs during pregnancy. Previously, we identified two Wnt signaling pathway-implicated genes, PPP3CA and MARK4, as having a role...

  • Polymorphism -765G>C in Cyclooxygenase-2 and Risk of Colorectal Cancer. Fatemeh Khorshidi; Seyed Reza Mohebbi; Mahdi Montazer Haghighi; Mohammad Yaghoob Taleghani; Pedram Azimzadeh; Mina Golmohammadi; Maede Alidadi; Sara Romani; Mohsen Vahedi; Ehsan Nazemalhosseini Mojarad; Mohammad Reza Zali // Laboratory Medicine;Spring2013, Vol. 44 Issue 2, pe14 

    Colorectal cancer is the third-most-prevalent form of cancer in the world. Several studies report that prostaglandins are mediators of carcinogenesis. Cyclooxygenase, also known as prostaglandin endoperoxidase H synthase, is a pro-inflammatory enzyme that intercedes in the formation of...

  • ACE Insertion/Deletion Polymorphism Associated with Caries in Permanent but Not Primary Dentition in Czech Children. Borilova Linhartova, Petra; Kastovsky, Jakub; Bartosova, Michaela; Musilova, Kristina; Zackova, Lenka; Kukletova, Martina; Kukla, Lubomir; Izakovicova Holla, Lydie // Caries Research;May2016, Vol. 50 Issue 2, p89 

    Objective: Dental caries is a multifactorial, infectious disease where genetic predisposition plays an important role. Insertion/deletion (I/D) polymorphism of angiotensin-converting enzyme (ACE) has very recently been associated with caries in Polish children. The aim of this study...

  • Tamoxifen-lnduced Venothromboembolk Events: Exploring Validation of Putative Genetic Association. Glurich, Ingrid; Po-Huang Chyou; Engel, Jessica M.; Cross, Deanna S.; Onitilo, Adedayo A. // Clinical Medicine & Research;Feb2013, Vol. 11 Issue 1, p16 

    Objective: A pilot study to examine accrual rates, efficiency of data capture approaches, study design and genotyping capacity for a future genetic validation study was undertaken. Design: The process pilot evaluated feasibility of applying a matched case-control design to validate association...

  • Determinants of stage at diagnosis of breast cancer in Nigerian women: sociodemographic, breast cancer awareness, health care access and clinical factors. Jedy-Agba, Elima; McCormack, Valerie; Olaomi, Oluwole; Badejo, Wunmi; Yilkudi, Monday; Yawe, Terna; Ezeome, Emmanuel; Salu, Iliya; Miner, Elijah; Anosike, Ikechukwu; Adebamowo, Sally; Achusi, Benjamin; dos-Santos-Silva, Isabel; Adebamowo, Clement; Adebamowo, Sally N // Cancer Causes & Control;Jul2017, Vol. 28 Issue 7, p685 

    Purpose: Advanced stage at diagnosis is a common feature of breast cancer in Sub-Saharan Africa (SSA), contributing to poor survival rates. Understanding its determinants is key to preventing deaths from this cancer in SSA.Methods: Within the Nigerian Integrative...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics