+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and ovarian cancer



BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and ovarian cancer



Genetic Testing 1(1): 41-46



The strongest risk factors currently known for inherited predisposition to breast and ovarian cancer are mutations in BRCA1 and BRCA2. Two mutations in BRCA1 and one mutation in BRCA2 have been identified that are present to a particularly high degree in the Ashkenazi Jewish population due to ancient founder effects. To clarify the role of ancient and novel BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population, families with a strong history of breast and ovarian cancer were examined. Seventeen Ashkenazi Jewish families with four or more breast or ovarian cancers were analyzed for ancient and novel mutations in BRCA1 and BRCA2. Ancient mutations existed in 9 families; 7 had the BRCA1 185 del AG mutation, 1 had BRCA1 5382 ins C, and 1 had BRCA2 6174 del T. A novel mutation, BRCA2 6425 del TT, was discovered in 1 of the remaining 8 families. Seven families with four or more cases of breast and ovarian cancer cannot be accounted for by either the ancient or novel mutations. Therefore, ancient mutations in BRCA1 and BRCA2 are present in approximately half of Ashkenazi Jewish families in this series, suggesting the possibility of novel mutations, either in BRCA1, BRCA2, or in currently unidentified gene(s), responsible for the remainder.

Please choose payment method:






(PDF emailed within 0-6 h: $19.90)

Accession: 045344587

Download citation: RISBibTeXText

PMID: 10464624

DOI: 10.1089/gte.1997.1.41


Related references

Prevalence of BRCA1 and BRCA2 mutations in Ashkenazi Jewish families with breast and pancreatic cancer. Cancer 118(2): 493-499, 2012

Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nature Medicine 2(11): 1179-1183, 1996

Prevalence of BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish (AJ) families with breast cancer (BC) and pancreatic cancer (PC). Journal of Clinical Oncology 23(16_Suppl): 9549-9549, 2016

Concomitant BRCA1 and BRCA2 gene mutations in an Ashkenazi Jewish woman with primary breast and ovarian cancer. American Journal of Obstetrics and Gynecology 196(4): E6-E9, 2007

Prevalence of specific germline mutations in BRCA1 and BRCA2 in women affected with breast or ovarian cancer from the Ashkenazi Jewish population. Journal of Medical Genetics 34(SUPPL 1): S32, 1997

Risk factors for detecting germline BRCA1 and BRCA2 founder mutations in Ashkenazi Jewish women with breast or ovarian cancer. Journal of Medical Genetics 36(5): 369-373, 1999

A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families. Human Mutation 20(5): 352-357, 2002

Mutational analyses of BRCA1 and BRCA2 in Ashkenazi and non-Ashkenazi Jewish women with familial breast and ovarian cancer. Human Mutation 16(6): 491-501, 2000

Ashkenazi founder BRCA1/BRCA2 mutations in Slovak hereditary breast and/or ovarian cancer families. Neoplasma 53(2): 97-102, 2006

Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. Journal of Medical Genetics 39(8): 611-614, 2002

Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families. American Journal of Human Genetics 60(5): 1059-1067, 1997

Ovarian cancer survival in Ashkenazi Jewish patients with BRCA1 and BRCA2 mutations. European Journal of Surgical Oncology 27(3): 278-281, 2001

Ovarian cancer risk in Ashkenazi Jewish carriers of BRCA1 and BRCA2 mutations. Clinical Cancer Research 8(12): 3776-3781, 2002

Identification of BRCA1 and BRCA2 gene mutations and characteristics of Ashkenazi Jewish cancer-prone families. American Journal of Human Genetics 59(4 SUPPL ): A65, 1996

No evidence for a role of BRCA1 or BRCA2 mutations in Ashkenazi Jewish families with hereditary prostate cancer. Prostate 39(4): 280-284, 1999