BRCA1 and BRCA2 mutations as prognostic factors in bilateral breast cancer patients

Rogozińska-Szczepka, Jadwiga; Utracka-Hutka, Beata; Grzybowska, Ewa; Mąka, B.; Nowicka, Elżbieta; Smok-Ragankiewicz, A; Zientek, Helena; Steffen, Jan; Wojciechowska-Łącka, A.

doi:10.1093/annonc/mdh352

Cited by 33 publications

(28 citation statements)

References 30 publications

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“…Rogozinska-Szczepka et al [1] pointed out that carriers of hereditary BRCA1 or BRCA2 gene mutations develop the first metachronous, bilateral breast cancer earlier (at 42 years) than non-carriers of these gene mutations (at 49.5 years). These data come from a research on the Polish population, and presumably this is the reason for almost identical results to ours.…”

Section: Discussionmentioning

confidence: 99%

“…However, a number of researchers found gene defects in only some women affected by bilateral breast cancer while in most of the cases these gene defects have not been identified [3][4][5][6]. At the same time, these women had a strong family history of breast and ovarian cancer [1,2,7]. It may thus be assumed that in the case of these women there are factors other than mutations in the BRCA1 or BRCA2 genes that promote the development of bilateral breast cancer by altering the expression of these genes [6,8,9].…”

Section: Introductionmentioning

confidence: 98%

“…The incidence of bilateral breast cancer in human populations is generally estimated at 2-14% of all diagnosed breast cancers [1][2][3]. Its development is commonly regarded as having a genetic basis linked most strongly with hereditary defects in the BRCA1 and BRCA2 genes.…”

Section: Introductionmentioning

confidence: 99%

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Age at Onset of Bilateral Breast Cancer, the Presence of Hereditary <i>BRCA1, BRCA2, CHEK2</i> Gene Mutations and Positive Family History of Cancer

Skasko¹,

Kluska²,

Niwińska³

et al. 2009

Oncol Res Treat

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Background: Our research focused on the relations between the age at onset of bilateral breast cancer and the prevalence of selected hereditary BRCA1, BRCA2 and CHEK2 gene mutations with reference to their positive family history of cancer. Methods: The DNA of peripheral blood lymphocytes of patients was examined for the presence of selected hereditary mutations in the BRCA1, BRCA2 and CHEK2 genes, using molecular biology techniques. The family history of neoplasms was also analyzed. Results: The following mutations in the BRCA1 gene were identified: 185delAG, C61G, 5382insC, 3875 del11ins7, and R1751X. In the BRCA2 gene, the 9631delC and A9599T mutations were found. In the CHEK2 gene, the 1100delC and I157T mutations were identified. BRCA1/2 gene mutations were identified in 19.4% of patients and CHEK2 gene mutations in 7%. Conclusions: It was shown that the presence of the mutations in the BRCA1/2 genes among patients with bilateral breast cancer is associated with an earlier occurrence of the first and the second breast cancer than in patients without hereditary mutations in these genes (a difference of 7.2–8.4 years). In patients with CHEK2 gene mutations, breast cancer occurred 2.1–3.8 years earlier than in patients without mutations in the CHEK2 gene.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 98%

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Age at Onset of Bilateral Breast Cancer, the Presence of Hereditary <i>BRCA1, BRCA2, CHEK2</i> Gene Mutations and Positive Family History of Cancer

Skasko¹,

Kluska²,

Niwińska³

et al. 2009

Oncol Res Treat

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“…Synchronous breast cancer is defined as second primary breast cancer detected within 1 year of the diagnosis of the primary breast cancer (1). Even though infiltrating lobular carcinoma accounts for about 5-10% of all invasive breast cancers, it is recognized that nearly 8.7% of patients diagnosed with invasive lobular carcinoma have bilateral breast disease as compared to 0.5% in invasive ductal carcinoma (2).…”

Section: Discussionmentioning

confidence: 99%

A Case of Synchronous Bilateral Invasive Lobular Carcinoma of Breast

Mohamad¹

2014

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“…12 This is especially important in BRCA1/2 mutation carriers, who have a significantly higher risk of developing a contralateral breast cancer (53%) in contrast to the general population (2%). 15 EXTRAMAMMARY Additional extramammary findings also are common, and most are benign. Recent retrospective studies of breast MRI examinations report 17% to 34% of cases with at least 1 extramammary incidental finding.…”

Section: Breastmentioning

confidence: 99%

Breast Magnetic Resonance Imaging Incidental Findings

Szabo

2014

Topics in Magnetic Resonance Imaging

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B reast magnetic resonance imaging (MRI) is now an integral part of breast imaging. It makes valuable contributions in high-risk screening; evaluating the extent of disease, positive surgical margins, and response to neoadjuvant chemotherapy; as well as distinguishing postoperative scar from recurrent disease. [1][2][3][4][5][6] Although the examination is focused on the breast, portions of the neck, thorax, and upper abdomen are also visualized. Just as in computed tomography, the issue of the incidental or unexpected finding must be addressed by the reader.The detection of these findings during diagnosis and surveillance often results in additional testing, economic burden, and anxiety for the patient. Most incidentally detected lesions are benign; however, the reader must consider the potential of these findings to be metastases or additional primary tumors. Approximately 5% to 10% of breast cancers are metastatic at the time of diagnosis. 7 Even with significant advances in breast cancer treatment, up to 70% of node-positive breast cancers will relapse and 20% to 30% of women with stage I and II disease will develop distant metastases, occurring approximately 15 years after radiation therapy. 7,8 Therefore, all detected findings must be carefully considered. A recent study demonstrated the bone, lung, and liver to be the most common anatomical sites of distant metastases in patients with breast cancer, with 21.9% presenting with multisite involvement. 9 The exception to this pattern is the basal-like and triple-negative breast cancers, which have a predilection for visceral and central nervous system metastases and infrequently involve bone. 10 Although lesion detection occurs on potentially any sequence, the 3-dimensional fast spoiled gradient echo axial sequence is reported to be superior to the short tau inversion recovery sequence in incidental finding detection (82.8% vs 76.5%). 11 As in computed tomography, the addition of intravenous contrast enhances lesion detection. Rinaldi et al 11 demonstrated the enhanced 3-dimensional fast spoiled gradient echo axial fat-suppressed axial sequence to have greater sensitivity compared with unenhanced images in detecting metastatic lesions, especially those smaller than 10 mm (98.3% vs 79.3%). These lesions are often on the edge of the field of view and require window manipulation for identification. BREASTDuring the initial extent of disease evaluation, it is not uncommon to discover additional breast lesions. Management of ipsilateral breast findings is directed by their morphology, enhancement characteristics, and proximity to the index tumor. Masses found in the contralateral breast during the extent of disease evaluation raise the issue of an additional primary tumor.Studies have reported an incidence of contralateral synchronous malignancy detected by preoperative MRI to be in the range of 3% to 5 %. 12-14 A contralateral metachronous cancer has been reported to develop in 5% to 10% of patients with breast cancer within a 10-year follow-up. 12 This is especia...

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BRCA1 and BRCA2 mutations as prognostic factors in bilateral breast cancer patients

Cited by 33 publications

References 30 publications

Age at Onset of Bilateral Breast Cancer, the Presence of Hereditary <i>BRCA1, BRCA2, CHEK2</i> Gene Mutations and Positive Family History of Cancer

Age at Onset of Bilateral Breast Cancer, the Presence of Hereditary <i>BRCA1, BRCA2, CHEK2</i> Gene Mutations and Positive Family History of Cancer

A Case of Synchronous Bilateral Invasive Lobular Carcinoma of Breast

Breast Magnetic Resonance Imaging Incidental Findings

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