A rapid genetic counselling and testing in newly diagnosed breast cancer is associated with high rate of risk-reducing mastectomy in BRCA1/2-positive Italian women

Cortesi, Laura; Razzaboni, Elisabetta; Toss, Angela; Matteis, Elisabetta De; Marchi, Isabella; Medici, Veronica; Tazzioli, Giovanni; Andreotti, Alessia; G, De Santis; Pignatti, Marco; Fédérico, Massimo

doi:10.1093/annonc/mdt422

Cited by 30 publications

(28 citation statements)

References 18 publications

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“…The concept of rapid genetic testing and counseling is evolving [28–32]. In one European study, only one third of patients who underwent rapid genetic testing and counseling were able to receive their results prior to index surgery [31].…”

Section: Discussionmentioning

confidence: 99%

Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis

Yadav

Reeves

Campian

et al. 2017

Hered Cancer Clin Pract

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BackgroundThe impact of timing of genetic testing on surgical decision making in women with breast cancer and BRCA mutation is not well known.MethodsWomen who were found to carry a deleterious BRCA mutation and had been diagnosed with breast cancer were identified from a database at Beaumont Health. Women who had received BRCA positive results at least a day prior to their index surgery were considered to be aware of their mutation status prior to surgery. Baseline characteristics and surgical choices were compared between women who were aware of their mutation status prior to surgery and those who were not. Fischer’s exact test was used for categorical variables and Mann–Whitney U-Test was used for continuous variables.ResultsA total of 220 patients were included in the final analysis, 208 (94.5%) with unilateral breast cancer and 12 (5.5%) with bilateral breast cancer. Out of the 208 patients with unilateral breast cancer, 106 (51.0%) patients were aware of their mutation status prior to index surgery while 102 (49%) were not. A significantly (p < 0.05) higher proportion of women underwent contralateral prophylactic mastectomy in the group that was aware of their mutation status prior to index surgery compared to the group that was not (76.4% vs 14.7%).ConclusionsOur study demonstrates that knowledge of BRCA mutation status impacts surgical decision making in favor of bilateral mastectomy in patients who are aware of their results prior to index surgery. This finding supports the practice of preoperative genetic testing in patients with newly diagnosed breast cancer.

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Section: Discussionmentioning

confidence: 99%

Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis

Yadav

Reeves

Campian

et al. 2017

Hered Cancer Clin Pract

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“…These results are promising and reflect the growing acceptance of RGCT as part of standard BC care in countries such as the United Kingdom and the Netherlands. Studies in several other countries have suggested that RGCT is acceptable to many BC patients and surgeons, and that RGCT may impact on risk‐reducing surgery . We expect that genetic testing will be performed increasingly quickly and efficiently, so that more patients will be able to receive DNA test results before primary surgery.…”

Section: Discussionmentioning

confidence: 99%

“…Studies in several other countries have suggested that RGCT is acceptable to many BC patients and surgeons, 5,22 and that RGCT may impact on risk-reducing surgery. 23,24 We expect that genetic testing will be performed increasingly quickly and efficiently, so that more patients will be able to receive DNA test results before primary surgery. As the technology of RGCT advances, additional gains can be expected in terms of shared decision making and patient empowerment.…”

Section: Discussionmentioning

confidence: 99%

Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients’ and health professionals’ attitudes, experiences, and evaluation of effects on treatment decision making

Wevers

Aaronson

Bleiker

et al. 2017

Journal of Surgical Oncology

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“…Nonetheless, an accurate risk assessment in these high-risk populations remains fundamental, in order to establish personalized strategies for risk control (i.e. surveillance, chemoprevention [15] and prophylactic surgery [16]). At this aim, reproductive factors were investigated in a population of Italian women attending the Modena Family Cancer Clinic (MFCC), comparing women classified at different levels of increased BC risk.…”

Section: Introductionmentioning

confidence: 99%

The impact of reproductive life on breast cancer risk in women with family history or BRCA mutation

et al. 2016

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Reproductive history and exogenous hormonal exposures are acknowledged risk factors for breast cancer in the general population. In women at increased breast cancer risk for genetic predisposition or positive family history, data regarding these risk factors are limited or conflicting, and recommendations for these categories are unclear. We evaluated the characteristics of reproductive life in 2522 women at increased genetic or familial breast cancer risk attending our Family Cancer Center. Breast cancers in BRCA mutation carriers were more likely to be hormone receptor negative, diagnosed at 35 years or before and multiple during the lifetime than tumors in women at increased familial risk, while the distribution of invasive cancers and HER2 positive tumors was similar in the different risk groups. At least one full-term pregnancy (HR 0.27; 95% CI 0.12–0.58; p = 0.001), breastfeeding either less (HR 0.24; 95% CI 0.09–0.66; p = 0.005) or more (HR 0.25; 95% IC 0.08–0.82; p = 0.022) than one year and late age at menopause (HR 0.10; 95% CI 0.01–0.82; p = 0.033) showed to be protective factors in BRCA mutation carriers, while in women at increased familial risk early age at first full-term pregnancy (HR 0.62; 95% IC 0.38–0.99; p = 0.048) and late menarche (HR 0.61; 95% CI 0.42–0.85; p = 0.004) showed to be the main protective factors. Finally, for the entire population, combined hormonal contraceptives demonstrated to do not increase breast cancer risk. The results of our study suggest that women at high familial risk and mutation carries develop tumors with different clinical-pathological characteristics and, consequently, are influenced by different protective and risk factors.

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A rapid genetic counselling and testing in newly diagnosed breast cancer is associated with high rate of risk-reducing mastectomy in BRCA1/2-positive Italian women

Cited by 30 publications

References 18 publications

Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis

Preoperative genetic testing impacts surgical decision making in BRCA mutation carriers with breast cancer: a retrospective cohort analysis

Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients’ and health professionals’ attitudes, experiences, and evaluation of effects on treatment decision making

The impact of reproductive life on breast cancer risk in women with family history or BRCA mutation

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