The rate of the predominant Jewish mutations in the BRCA1, BRCA2, MSH2 and MSH6 genes in unselected Jewish endometrial cancer patients.

OBJECTIVES: The genes associated with familial Endometrial Cancer (EC) are largely unknown. While EC is an integral part of Hereditary Non-Polyposis Colon Cancer, there is an ongoing debate if EC is indeed overrepresented in hereditary breast/ovarian cancer families. METHODS: Unselected Jewish women with EC who were diagnosed from January 1982 to January 2008 were genotyped for the predominant mutations in Jewish individuals in BRCA1 (185delAG, 5382InsC, Tyr978X) BRCA2 (6174delT), MSH2 (A636P, 324delCA) and MSH6 (c.3984_3987dup). RESULTS: Overall, 289 Jewish women with EC were included, the majority (217-75%) were Ashkenazim. Mean age at diagnosis was 62.6 ± 12 years, the most common histopathology was type I (endometrioid carcinoma) (80.4% of participants) with 29 having type II (Uterine papillary serous and clear cell cancer) Most patients (85.4%) had stage 1 disease by the FIGO staging. Five women (1.7%-2.3% of the Ashkenazim) carried either the BRCA1*185delAG (n = 4) or BRCA2*6174delT (n = 1) mutations, a rate similar with that of the general Ashkenazi population. Notably, none of 34 women with type II EC carried any BRCA1/BRCA2 mutations. Four (1.8%) and three (1.4%) of the 217 Ashkenazim patients harbored the c.3984_3987dup, A636P, MSH6 and MSH2 mutations, respectively, and 1/72 (1.4%) of the non-Ashkenazi patients harbored the 324delCA MSH2 mutation. Three of 42 (7.1%) women with EC diagnosed < 50 years carried either BRCA1 MSH6 or MSH2 mutations. CONCLUSIONS: Our data do not support screening for BRCA1/2 mutations in consecutive EC patients.

Coping simultaneously with 2 stressors: immigrants with ovarian cancer.

The dual adjustment to being a cancer patient and an immigrant involves major changes in life and might be a severe experience. This study set out to describe the experience of women who have come to Israel from the former Soviet Union and are coping with ovarian cancer. It focused on illness narratives as presented by 8 patients with cancer at stage III. Our findings indicated that the dual process might have different implications according to the meaning attributed by the patient to the illness situation. Viewing the illness as one more burden among other difficulties, such as language barrier, was a prism through which patients experienced their vulnerability in coping with the illness. Alongside a helplessness pattern, we found indications of interviewees' perceiving advantages in their status as immigrant cancer patients, by dealing with that problem alongside other difficulties. They showed a "fighting spirit" in coping with the illness. Immigration can have a moderating effect on patients' experiences, and the 2 stressors do not necessarily accumulate. Our findings indicate that patients' meaning to the illness experience was a "litmus test," which indicated the way patients would describe their coping stages. This may have potential as a clinical marker of psychological vulnerability.