The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort study

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BRCA1/2 mutation carriers have a considerably increased risk to develop breast and ovarian cancer. The personalized clinical management of carriers and other at-risk individuals depends on precise knowledge of the cancer risks. In this report, we give an overview of the present literature on empirical cancer risks, and we describe risk prediction models that are currently used for individual risk assessment in clinical practice. Cancer risks show large variability between studies. Breast cancer risks are at 40-87% for BRCA1 mutation carriers and 18-88% for BRCA2 mutation carriers. For ovarian cancer, the risk estimates are in the range of 22-65% for BRCA1 and 10-35% for BRCA2. The contralateral breast cancer risk is high (10-year risk after first cancer 27% for BRCA1 and 19% for BRCA2). Risk prediction models have been proposed to provide more individualized risk prediction, using additional knowledge on family history, mode of inheritance of major genes, and other genetic and non-genetic risk factors. User-friendly software tools have been developed that serve as basis for decision-making in family counseling units. In conclusion, further assessment of cancer risks and model validation is needed, ideally based on prospective cohort studies. To obtain such data, clinical management of carriers and other at-risk individuals should always be accompanied by standardized scientific documentation.

Section: Breast Cancer Risk Prediction Modelsmentioning

confidence: 99%

Section: Cancer Risks Of Brca1/2 Mutation Carriersmentioning

confidence: 99%

Section: Cancer Risks Of Brca1/2 Mutation Carriersmentioning

confidence: 99%

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Breast Cancer Risks and Risk Prediction Models

Engel

Fischer

2015

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“…Before performing bilateral mastectomy, it is advisable to exclude metastasis. Rhiem et al [14] have published tables relating to the probability of contracting the disease contralaterally, depending on the age at first onset and the time lag. These can be used by both physician and patient to assess the risk of contracting contralateral disease within the next 5 or 10 years.…”

Section: Secondary Prevention Of Breast Cancermentioning

confidence: 99%

Prophylactic Surgery: For Whom, When and How

Mau

Untch

2017

Risk-reducing surgery has proved to be a reasonable procedure in healthy women with a definitely elevated risk of developing cancer. Here we consider the elevated risk of breast and ovarian cancer. There is a clear indication for such surgery in healthy women with a pathogenic BRCA1/2 mutation. For these patients, a risk-reducing bilateral mastectomy leads to a verifiable reduction in mortality from breast cancer, particularly for young patients. In most cases, surgery is combined with breast reconstruction. The pros and cons of surgical treatment and the different surgical techniques have to be explained to and carefully considered with the patient. As yet, no unequivocal data for the benefits of intensifying early detection have been ascertained with respect to mortality from breast carcinoma. In index patients with a BRCA mutation, the surgical treatment should depend on the prognosis of the primary disease. A lower age at onset and a better prognosis of the primary disease make a contralateral mastectomy (CPM) more reasonable. In the case of BRCA mutation-related cancer, a reduction of mortality through CPM has been proven. A risk-reducing adnexectomy is basically recommended for BRCA mutation carriers. Healthy premenopausal women need a subsequent hormone replacement therapy. The prognosis of the patients is dominated by the ovarian carcinoma. This can be prevented by risk-reducing salpingo-oophorectomy in 95% of the cases.

“…A study by the GC-HBOC [25 ]provided data that was able to influence the decision-making process of women with unilateral breast cancer. The retrospective, multicenter cohort study was performed from 1996 to 2011 and comprised 6,235 women with unilateral breast cancer from 6,230 high-risk families that had either tested positive for BRCA1 (n = 1,154) or BRCA2 (n = 575) mutations or tested negative (n = 4,501).…”

Section: Risk-reducing Options For Brca1/2 Mutation Carriersmentioning

confidence: 99%

Impact of Prophylactic Mastectomy in <b><i>BRCA1/2</i></b> Mutation Carriers

Rhiem

Schmutzler

2014

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Unlike the general decrease in invasive oncologic care, the trend for prophylactic bilateral mastectomy in healthy women and prophylactic contralateral mastectomy in women with unilateral breast cancer is steadily rising. This is even more surprising when considering that for e.g. prophylactic contralateral mastectomy no clear survival benefit has been demonstrated so far. The decision-making process around risk-reducing surgery may be influenced by several conflicting parameters such as the patient's fears and desire to achieve a survival advantage, the surgeon's financial motivations, or the oncologist's paternalistic approach to the above trend. Physicians should support their patients throughout the decision-making process, guide them through the dense fog of information, and encourage them to reconsider all options and alternatives before embarking on an irreversible surgical intervention. Healthy and diseased women should be comprehensively informed about their absolute individual risks for cancer, the benefits and harms of the surgery, alternative preventive strategies, and last but not least the competing risks of preceding carcinomas and cancer in general. Within the framework of non-directive counseling in the specialized centers of the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC), decision-making aids are being developed with grants from the Federal Ministry of Health and the German Cancer Aid to support women in making conclusive and satisfactory decisions.