Prevalence of &lt;EMPH TYPE="ITAL"&gt;BRCA1&lt;/EMPH&gt; and &lt;EMPH TYPE="ITAL"&gt;BRCA2&lt;/EMPH&gt; Mutations in Women Diagnosed With Ductal Carcinoma In Situ

Claus, Elizabeth B.; Petruzella, Stacey; Matloff, Ellen; Carter, Darryl

doi:10.1001/jama.293.8.964

Cited by 95 publications

(87 citation statements)

References 46 publications

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“…The reason might be due to the diversity of race, menopausal status or weight in different regions. (Sachdev et al, 2010;Li et al, 2013;Somali et al, 2013) Similar to other studies (Crook et al, 1997;Noguchi et al, 1999;Claus et al, 2005;Yang et al, 2008), DCIS was rare among our TNBCs lacking mammographic calcifications. As we all know, calcifications were regarded as the specific pictures of DCIS.…”

Section: Discussionsupporting

confidence: 90%

Associations Between Mammography and Ultrasound Imaging Features and Molecular Characteristics of Triple-negative Breast Cancer

Li¹,

Zhao²,

Dai³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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Section: Discussionsupporting

confidence: 90%

Associations Between Mammography and Ultrasound Imaging Features and Molecular Characteristics of Triple-negative Breast Cancer

Li¹,

Zhao²,

Dai³

et al. 2014

Asian Pacific Journal of Cancer Prevention

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“…In case no family member fulfils one of the 'additional criteria', the selection is dependent on the Frank, Gilpin or Evans score. The prevalence of BRCA1 and BRCA2 mutations among all women diagnosed with an invasive breast cancer or ductal carcinoma in situ is similar, and varies between 0.4 -2.6% and 1.4 -2.4%, respectively (Peto et al, 1999;Sanjose et al, 2003;Claus et al, 2005). However, both in our settings as well as in the literature, the families known to carry a BRCA1 mutation outnumber those with a BRCA2 mutation by far (Newman et al, 1998;Syrjakoski et al, 2000;Claus et al, 2005).…”

Section: Discussionsupporting

confidence: 60%

“…The prevalence of BRCA1 and BRCA2 mutations among all women diagnosed with an invasive breast cancer or ductal carcinoma in situ is similar, and varies between 0.4 -2.6% and 1.4 -2.4%, respectively (Peto et al, 1999;Sanjose et al, 2003;Claus et al, 2005). However, both in our settings as well as in the literature, the families known to carry a BRCA1 mutation outnumber those with a BRCA2 mutation by far (Newman et al, 1998;Syrjakoski et al, 2000;Claus et al, 2005). This may mean that either BRCA2 mutations are less common or that a considerable number of families actually carrying a BRCA2 mutation are missed, most likely because they are not recognised by the current probability models.…”

Section: Discussionmentioning

confidence: 99%

Optimal selection for BRCA1 and BRCA2 mutation testing using a combination of ‘easy to apply’ probability models

et al. 2006

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To establish an efficient, reliable and easy to apply risk assessment tool to select families with breast and/or ovarian cancer patients for BRCA mutation testing, using available probability models. In a retrospective study of 263 families with breast and/or ovarian cancer patients, the utility of the Frank (Myriad), Gilpin (family history assessment tool) and Evans (Manchester) model was analysed, to select 49 BRCA mutation-positive families. For various cutoff levels and combinations, the sensitivity and specificity were calculated and compared. The best combinations were subsequently validated in additional sets of families. Comparable sensitivity and specificity were obtained with the Gilpin and Evans models. They appeared to be complementary to the Frank model. To obtain an optimal sensitivity, five 'additional criteria' were introduced that are specific for the selection of small or uninformative families. The optimal selection is made by the combination 'Frank X16% or Evans2 X12 or one of five additional criteria'. The efficiency of the selection of families for mutation testing of BRCA1 and BRCA2 can be optimised by using a combination of available easy to apply risk assessment models. British Journal of Cancer (2006) Identification of families at high risk of hereditary breast and/or ovarian cancer contributes to the prevention and early detection of breast and ovarian malignancies. Therefore, genetic testing is offered to women with an increased risk of hereditary breast or ovarian cancer based on familial clustering of breast and/or ovarian cancer, particularly in case of early onset or if breast cancer occurs in a male. Selection criteria to test for BRCA mutations vary. Because BRCA testing is laborious and expensive, as well as associated with medical, psychological and social consequences for the patient, careful patient selection is required before testing. To obtain optimal ascertainment, many risk assessment models and prior probability models have been developed and evaluated (de la Hoya et al, 2003;Domchek et al, 2003). Four such models, the Claus, Gilpin, Frank and Evans model (Claus et al, 1998;Gilpin et al, 2000;Frank et al, 2002;Evans et al, 2004) are empirically derived scoring systems, easy to apply in daily practice with the use of a pencil and a paper and easy to understand for both counsellor and patient.With the Claus tables the probability of developing breast cancer can be determined, but not the likelihood of detecting a BRCA mutation (as in prior probability models). These tables are based on series of unselected women with breast cancer. As this model does not account for breast cancer in more than two family members, the presence of ovarian cancer, male breast cancer or bilateral breast cancer, it underestimates the cancer risk in many families and cannot be used solely as a prediction model in the clinic.The Frank model, developed by Myriad Genetics, is an empirical model correlating the prevalence of BRCA mutations with personal and family history of breast and ovarian can...

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“…Claus et al [24] reported one case of double heterozygosity in both BRCA1 and BRCA2 genes (BRCA1 W321X and BRCA2 NT_3398del5 mutations) and a woman that had 2 mutations in BRCA2: BRCA2 S1630X and BRCA2 Q1782K. Regarding the double heterozygosity in Italian population, Cortesi et al [6] studied an Italian family where two different non-Ashkenazi Jewish mutations were present: 3358T/A in BRCA1 and NT_8756delA in BRCA2.…”

Section: Discussionmentioning

confidence: 99%

Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report

Pilato¹,

Summa²,

Danza³

et al. 2010

Breast Cancer Res Treat

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Hereditary breast cancer syndrome was firstly associated with BRCA1 and BRCA2 genes whose mutations confer high risk to develop breast and/or ovarian cancer. Double heterozygosity is a rare condition in which both BRCA1 and BRCA2 mutations are present in a family at the same time.In the current study, a family with double heterozygosity has been reported. Furthermore, for the first time a molecular analysis in both proband lineages, maternal and paternal, has been reported to understand the provenience of both germinal mutations.The case regards a woman that developed breast and ovarian cancer with liver metastasis which presented two mutations, each in the two genes, transmitted from her mother and her father respectively. In this family all available members have been investigated. The concomitantly presence of these peculiar mutations was never reported before suggesting a link with Caucasian population from Southern Italy.

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Prevalence of <EMPH TYPE="ITAL">BRCA1</EMPH> and <EMPH TYPE="ITAL">BRCA2</EMPH> Mutations in Women Diagnosed With Ductal Carcinoma In Situ

Cited by 95 publications

References 46 publications

Associations Between Mammography and Ultrasound Imaging Features and Molecular Characteristics of Triple-negative Breast Cancer

Associations Between Mammography and Ultrasound Imaging Features and Molecular Characteristics of Triple-negative Breast Cancer

Optimal selection for BRCA1 and BRCA2 mutation testing using a combination of ‘easy to apply’ probability models

Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report

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