Breast Cancer Res Treat. 2009 Jul;116(2):379-86. Epub 2008 Aug 14.

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.

Neuhausen SL, Ozcelik H, Southey MC, John EM, Godwin AK, Chung W, Iriondo-Perez J, Miron A, Santella RM, Whittemore A, Andrulis IL, Buys SS, Daly MB, Hopper JL, Seminara D, Senie RT, Terry MB; Breast Cancer Family Registry.

Source

Department of Epidemiology, University of California Irvine, Irvine, CA 92697-7550, USA. sneuhaus@uci.edu

Abstract

The Breast Cancer Family Registry is a resource for interdisciplinary and translational studies of the genetic epidemiology of breast cancer. This resource is available to researchers worldwide for collaborative studies. Herein, we report the results of testing for germline mutations in BRCA1 and BRCA2. We have tested 4,531 probands for mutations in BRCA1 and 4,084 in BRCA2. Deleterious mutations in BRCA1 and BRCA2 were identified for 9.8% of probands tested [233/4,531 (5.1%) for BRCA1 and 193/4,084 (4.7%) for BRCA2]. Of 1,385 Ashkenazi Jewish women tested for only the three founder mutations, 17.4% carried a deleterious mutation. In total, from the proband and subsequent family testing, 1,360 female mutation carriers (788 in BRCA1, 566 in BRCA2, 6 in both BRCA1 and BRCA2) have been identified. The value of the resource has been greatly enhanced by determining the germline BRCA1 and BRCA2 mutation statuses of nearly 6,000 probands.

PMID:: 18704680; [PubMed - indexed for MEDLINE]
PMCID: PMC2775077

Free PMC Article

Images from this publication.See all images (2) Free text

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Breast Cancer - MedlinePlus Health Information

Supplemental Content

Related citations

Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. [Breast Cancer Res Treat. 2004]
Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India.
Hedau S, Jain N, Husain SA, Mandal AK, Ray G, Shahid M, Kant R, Gupta V, Shukla NK, Deo SS, et al. Breast Cancer Res Treat. 2004 Nov; 88(2):177-86.
BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer. [Am J Hum Genet. 2000]
BRCA1 and BRCA2 mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer.
Moslehi R, Chu W, Karlan B, Fishman D, Risch H, Fields A, Smotkin D, Ben-David Y, Rosenblatt J, Russo D, et al. Am J Hum Genet. 2000 Apr; 66(4):1259-72. Epub 2000 Mar 16.
Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis. [BMC Cancer. 2008]
Rapid detection of carriers with BRCA1 and BRCA2 mutations using high resolution melting analysis.
Takano EA, Mitchell G, Fox SB, Dobrovic A. BMC Cancer. 2008 Feb 25; 8:59. Epub 2008 Feb 25.
Review Peritoneal carcinoma in women with genetic susceptibility: implications for Jewish populations. [Fam Cancer. 2004]
Review Peritoneal carcinoma in women with genetic susceptibility: implications for Jewish populations.
Casey MJ, Bewtra C. Fam Cancer. 2004; 3(3-4):265-81.
Review Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado. [Cancer. 2003]
Review Identification of germline 185delAG BRCA1 mutations in non-Jewish Americans of Spanish ancestry from the San Luis Valley, Colorado.
Mullineaux LG, Castellano TM, Shaw J, Axell L, Wood ME, Diab S, Klein C, Sitarik M, Deffenbaugh AM, Graw SL. Cancer. 2003 Aug 1; 98(3):597-602.

See reviews... See all...

Cited by 7 PubMed Central articles

Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population. [Mol Biol Rep. 2012]
Hereditary breast cancer in Middle Eastern and North African (MENA) populations: identification of novel, recurrent and founder BRCA1 mutations in the Tunisian population.
Mahfoudh W, Bouaouina N, Ahmed SB, Gabbouj S, Shan J, Mathew R, Uhrhammer N, Bignon YJ, Troudi W, Elgaaied AB, et al. Mol Biol Rep. 2012 Feb; 39(2):1037-46. Epub 2011 May 21.
Prevalence of the most frequent BRCA1 mutations in Polish population. [J Appl Genet. 2011]
Prevalence of the most frequent BRCA1 mutations in Polish population.
Brozek I, Cybulska C, Ratajska M, Piatkowska M, Kluska A, Balabas A, Dabrowska M, Nowakowska D, Niwinska A, Pamula-Pilat J, et al. J Appl Genet. 2011 Aug; 52(3):325-30. Epub 2011 Apr 19.
Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry. [Breast Cancer Res. 2011]
Contribution of large genomic BRCA1 alterations to early-onset breast cancer selected for family history and tumour morphology: a report from The Breast Cancer Family Registry.
Smith LD, Tesoriero AA, Wong EM, Ramus SJ, O'Malley FP, Mulligan AM, Terry MB, Senie RT, Santella RM, John EM, et al. Breast Cancer Res. 2011 Jan 31; 13(1):R14. Epub 2011 Jan 31.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
References for this PMC Article
Citation referenced in PubMed article. Only valid for PubMed citations that are also in PMC.
Free in PMC
Free full text articles in PMC
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open ...
BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.
Breast Cancer Res Treat. 2009 Jul ;116(2):379-86. Epub 2008 Aug 14 .

PubMed
Trends in the safety of inpatient hysterectomy for benign conditions in Californ...
Trends in the safety of inpatient hysterectomy for benign conditions in California, 1991-2004.
Obstet Gynecol. 2008 Sep ;112(3):553-61.

PubMed
The role of comorbidity in explaining the associations between anxiety disorders...
The role of comorbidity in explaining the associations between anxiety disorders and smoking.
Nicotine Tob Res. 2010 Apr ;12(4):355-64. Epub 2010 Feb 15 .

PubMed
Understanding infidelity: correlates in a national random sample.
Understanding infidelity: correlates in a national random sample.
J Fam Psychol. 2001 Dec ;15(4):735-49.

PubMed
Spironolactone-induced renal insufficiency and hyperkalemia in patients with hea...
Spironolactone-induced renal insufficiency and hyperkalemia in patients with heart failure.
Am Heart J. 2004 Dec ;148(6):971-8.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Display Settings:

Send to:

BRCA1 and BRCA2 mutation carriers in the Breast Cancer Family Registry: an open resource for collaborative research.

Source

Abstract

Publication Types, MeSH Terms, Grant Support

Publication Types

MeSH Terms

Grant Support

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Related citations

Cited by 7 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information