Effect of Genetic Cancer Risk Assessment on Surgical Decisions at Breast Cancer Diagnosis

Abstract

Hypothesis: Breast cancer gene (BRCA) mutation status affects patients' surgical decisions when genetic cancer risk assessment is offered at the time of breast cancer diagnosis, prior to definitive treatment. Patients and Interventions:Outcomes following genetic cancer risk assessment were studied for women newly diagnosed as having breast cancer who were prospectively enrolled in an institutional review boardapproved hereditary cancer registry during a 1-year sampling frame. BRCA gene analysis was offered to subjects with a calculated mutation probability of 10% or higher. Review of medical records and telephone survey were used to document surgical treatment decisions following genetic cancer risk assessment.Results: Thirty-seven of 233 women in the registry were enrolled at the time of a breast cancer diagnosis. The interval from diagnosis to genetic cancer risk assessment ranged from 3 to 60 days. The mean calculated probabil-ity of a BRCA gene mutation was 21% across the cohort. Two women were not tested because of low prior probabilities of mutation detection, and 3 declined owing to intercurrent psychological stressors. Of the remaining 32 patients, no BRCA gene mutation was detected in 22 (69%), 3 (9%) were found to carry a variant of uncertain significance, and 7 (22%) had a deleterious mutation. All 7 subjects with a deleterious mutation opted for bilateral mastectomy, whereas 20 of 22 patients with negative test results chose stage-appropriate treatment (PϽ.001).Conclusions: Genetic cancer risk assessment at the time of breast cancer diagnosis significantly affected women's treatment decisions. Although need and feasibility are demonstrated, the logistics of genetic cancer risk assessment during breast cancer diagnosis prove challenging.

The counsellees' view of an unclassified variant in BRCA1/2: recall, interpretation, and impact on life

“…Other studies confirm that counsellees opt for prophylactic surgery after UV disclosure [20,52,53] and that surgery decisions after genetic counselling are not determined only by factual information [54]. Studies in other fields also suggest that people react to risk information using two conceptually different processes: a more cognitive-deliberational system and a more intuitive-emotional system [55][56][57].…”

Barriers to participating in genetic counseling and BRCA testing during primary treatment for breast cancer

“…This high percentage and the preference to receive information about hereditary breast cancer from a treating surgeon suggest an approach for genetic counseling before surgery, especially in view of the possible advantages such as early approach may have on thedecision-makingprocessfortreatment. 19,34 Itispossiblethatfindings would differ for newly diagnosed patients making treatment decisions. More research is needed to explore the consequences of such timing on patients' psychological well-being.…”

When knowledge of a heritable gene mutation comes out of the blue: treatment-focused genetic testing in women newly diagnosed with breast cancer

“…1,2 Now, there is increasing evidence that mutation status may influence breast cancer surgical decisions, in particular decisions between breast conservation and bilateral mastectomy (BM). Many confirmed BRCA1/2 mutation carriers consider more radical surgery, given the high risks of an ipsilateral new breast primary 3 and contralateral second breast primary cancers. 4 Furthermore, risk-reducing bilateral salpingo-oophorectomy is recommended to reduce ovarian and tubal cancer risk, and it may also have additional therapeutic benefits for reducing breast cancer risks if the woman is premenopausal at the time of diagnosis.…”