Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history

@article{Tonin1999FounderBA,
  title={Founder BRCA1 and BRCA2 mutations in French Canadian ovarian cancer cases unselected for family history},
  author={Patricia N. Tonin and Anne-Marie Mes-Masson and Steven A. Narod and Parviz Ghadirian and Diane Provencher},
  journal={Clinical Genetics},
  year={1999},
  volume={55}
}
The breast cancer susceptibility genes, BRCA1 and BRCA2, differ in their contribution to ovarian cancer. Recently, founder mutations in each of these genes were identified in Canadian breast cancer and breast–ovarian cancer families of French ancestry. We have examined the prevalence of the founder mutations in a series of 113 French Canadian women with ovarian cancer unselected for family history. Germline mutations were found in eight of 99 invasive carcinomas and in none of the 14 tumors of… 
Founder BRCA1 and BRCA2 mutations in early‐onset French Canadian breast cancer cases unselected for family history
TLDR
The identification of founder BRCA1 and BRCa2 mutations in young‐onset breast cancer cases unselected for family history can facilitate carrier detection when the expected yield of a comprehensive screen may be low.
A review of histopathological subtypes of ovarian cancer in BRCA-related French Canadian cancer families
TLDR
The presence of a mucinous subtype ovarian cancer in multiple young age of onset breast and/or ovarian mutation-negative HBOC cancer families warrants further investigation, as these families appear to exhibit features most consistent with BRCA1 and BRCa2 carrier status.
The Contribution of BRCA1 and BRCA2 to Ovarian Cancer
TLDR
The ability to identify BRCA1/2 mutations has been one of the few major success stories over the last few years in the clinical management of ovarian cancer and may not be dependant on whether a mutation is identified in an affected relative.
BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients
TLDR
Although BRCA1/2 mutation testing is not warranted in the general Finnish ovarian cancer patient population, patients who have also been diagnosed with breast cancer or have family history of breast or breast and ovarian cancer could benefit from referral to genetic counselling and mutation testing.
Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.
TLDR
BRCA1 and BRCA2 mutations are common in women with invasive ovarian cancer and all women diagnosed with invasive non-mucinous ovarian cancer should be considered to be candidates for genetic testing.
Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent
TLDR
While all models were highly predictive of carrier status, the BRCAPRO model was the most accurate where a cut‐off of 10% would have eliminated 60 of 128 mutation‐negative families for genetic testing and only miss 10 of 96 mutation‐positive families.
Founder mutations in BRCA1 and BRCA2 genes.
  • R. Ferla, V. Caló, +7 authors A. Russo
  • Biology, Medicine
    Annals of oncology : official journal of the European Society for Medical Oncology
  • 2007
TLDR
The identification of the ethnic group of families undergoing genetic counseling enables the geneticist and oncologist to make more specific choices, leading to simplify the clinical approach to genetic testing carried out on members of high-risk families.
Haplotype analysis suggest common founders in carriers of the recurrent BRCA2 mutation, 3398delAAAAG, in French Canadian hereditary breast and/ovarian cancer families
TLDR
Results suggest that mutation carriers share a related ancestry; further supporting the concept that recurrent BRCA1 and BRCa2 mutations in the French Canadian population could be attributed to common founders, and provides further support for targeted screening of recurrent mutations in this population.
Ovarian cancer in Latvia is highly attributable to recurrent mutations in the BRCA1 gene
TLDR
The high frequency of two founder mutations in Latvian ovarian cancer patients allow us to suggest that testing for these mutations should be offered to all women with ovarian cancer diagnosed before the age of 65 years.
Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada.
TLDR
BRCA1 and BRCA2 mutations may be more frequent in general populations than previously thought and may be associated with various types of cancers.
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