Breast Cancer Risk Assessment and Counseling: A Clinician's Guide

Abstract: Most individuals concerned about hereditary breast cancer risk will neither order nor benefit from genetic testing at the present time. Many will, however, seek information about their risk and testing. Risk assessment services, in addition to providing information about hereditary risk and genetic testing, need also to include assessment of non-hereditary risks, information about how to evaluate risks, early detection modalities, the etiology of cancer, and assistance in devising follow-up health care plans. Psychosocial factors, particularly those pertaining to the individual's past history with illness and beliefs about causes and prognosis, must be taken into account to provide relevant information that is understood. A case history with examples of some of the types of information that lead to informed consent in a cancer risk assessment setting is provided.     

Hypercoagulability in a patient with Marfan syndrome.

A 39 year old man with Marfan syndrome presented with multiple pulmonary emboli and renal, hepatic, and splenic infarcts of unknown aetiology. The combination of thromboemboli and physical features initially suggested homocystinuria; however, laboratory examination showed no evidence for this disorder. Laboratory evaluation identified no coagulation abnormalities. This patient represents the unusual occurrence of hypercoagulability in a patient with Marfan syndrome.     

Fertility after simulated Fowler-Stephens orchiopexy in rats.

In order to determine the effects of the Fowler-Stephens orchiopexy (FSO) on fertility, young rats underwent simulated FSO, FSO and concurrent contralateral orchiectomy (FSO/OR), unilateral orchiectomy (OR), or sham operation (controls). Twelve weeks after the operation, each male rat was mated to two proven-fertile female rats for 17 days (three ovulatory cycles). Two weeks later, both male and female rats were killed. No pregnancy resulted from the matings of the FSO/OR males. In contrast, pregnancy ensued in 13 of 16 (81%) females in the FSO group, 9 of 14 (64%) in the OR group, and 11 of 12 (92%) in the control group. There were no fertile males in the FSO/OR group. In the FSO group, eight of eight males induced pregnancy in at least one female; in the OR group, six of seven (86%) males were fertile as were all six males in the control group. No differences in litter size or fetal weight were observed between fertile females in various groups.     

Basaloid squamous carcinoma of the buccal cavity.

Basaloid-squamous carcinoma was first recognized as a separate pathologic entity in 1986. It has been described in the hypopharynx, larynx, base of tongue, and nasal cavity. We report the first case of this rare tumor occurring in the buccal cavity and review the atypical squamous cell carcinomas that occurred in these sites.     

Microvascular histopathology in head and neck oncology.

A histological study of both recipient and flap vessels was performed in 30 patients with head and neck cancer, and relevant preoperative risk factors were assessed. A total of 35 free flaps were transferred in 30 patients; 16 patients had preoperative radiotherapy, 13 were smokers, eight had hypertension and six had peripheral vascular disease. No significant venous pathology was found in either the flap or the neck veins. However, over two-thirds of the neck arteries and one-half of the flap arteries were found to have microscopic arterial pathology. The only pre-existing factor significantly influencing vessel pathology was hypertension (P=0.007). All flaps survived, although in two there was some loss of the skin paddle. This study reveals that the majority of patients undergoing microsurgery in the head and neck region have pre-existing arterial damage in both the flap and the recipient arteries, but this does not have a significant effect on the overall patency of the microvascular anastomoses.