QOL derangements are common in breast cancer patients necessitating the provisions for patient access to psychosocial services. However, because of the huge patient load, a screening process to identify those meriting intervention over the general population would be a viable solution.

Identifying genes associated with familial inheritance of breast cancer continues to be a major goal of current research as the known high penetrance genes could be attributable for only a small percentage of the risk. So, it is hypothesized that the low penetrance genes may also modify the risk for familial breast cancer. In the present case-control study, undertaken to examine the influence of polymorphisms of GSTs in familial and sporadic breast cancer susceptibility, 597 women including 222 sporadic breast cancer patients, 125 familial breast cancer patients and 250 females with no history of cancer as controls were genotyped by PCR based methods. Odds Ratios (ORs) and 95% Confidence Intervals (95%CIs) were calculated by unconditional logistic regression adjusted to age. Interestingly, GSTM1 deletion was found to be significantly associated only with familial breast cancer (OR = 2.0; 95%CI = 1.252-3.128) while GSTT1 was associated only with sporadic breast cancer (OR = 2.3; 95%CI = 1.336-3.970). GSTP1 Ile105Val polymorphism was associated neither with sporadic nor familial breast cancer susceptibility (P value > 0.05). The GST genotypes did not have any effect on the survival of both familial and sporadic breast cancer patients. However, familial breast cancer patients with GSTM1 null genotype had a relative risk of 0.42 (95%CI = 0.18-0.97) for an advanced disease stage. The results indicate that, in addition to the known high penetrance genes, certain low penetrance genes may also play a role, in the familial inheritance of breast cancer. It is also noticed that all the polymorphisms associated with sporadic breast cancer are not associated with familial breast cancer.

Results of the present study indicate no significant change in overall QOL immediately after the surgery, probably reflecting strong family and social support for these women. QOL was significantly better among women undergoing breast conservation compared with mastectomy.

Invasive lobular carcinoma (ILC) of the breast exhibits unusual clinicopathological, radiological, histological, and metastatic patterns. We present here two cases of ILC of the breast that presented with an unusual pattern of metastasis involving the uterus.Our first patient presented to her primary gynaecologist with profuse vaginal bleeding and underwent total abdominal hysterectomy and bilateral salpingo-oophrectomy. She had fibroadenoma excised from her left breast four years previously. Histopathology revealed lobular carcinoma diffusely infiltrating uterus, cervix, and bilateral ovaries. Retrospective examination of the left breast showed induration along the previous fibroadenoma excision scar. A biopsy from the scar suggested lobular carcinoma.Our second patient presented with a hard indurated cervix mass that mimicked primary cervix carcinoma. She had ILC of the right breast four years previously for which she underwent mastectomy followed by adjuvant chemotherapy and radiotherapy. She was on tamoxifen. Further evaluation at presentation with imaging showed extensive intra-abdominal disease involving peritoneum with moderate ascites, adnexal masses, and confluent para-aortic nodal mass. A cervix biopsy confirmed metastasis from lobular carcinoma.Metastatic involvement of the genital tract should be considered in women with a history of breast cancer who present with abnormal vaginal bleeding, suspicious pelvic examination, or radiological findings. We suggest such patient be vigorously screened with biopsy even if the patient is disease-free for several years. It is crucial to differentiate the metastasis from primary carcinoma of the genital tract as there are vast differences in the management of each.

This case control study investigated whether polymorphisms of estrogen metabolizing genes CYP1A1 MspI, CYP17 MspAI, COMT Val(158) Met, and SULT1A1 Arg(213) His have any role in familial breast cancer susceptibility risk. Logistic regression analysis adjusted to age was used to calculate odds ratios (ORs) and 95% confidence intervals (95%CIs). Familial breast cancer risk due to CYP1A1 wt/m1 and m1/m1 genotypes was 2.3 (1.51-3.61)-fold and 7.1 (3.69-13.7)-fold, respectively. In addition to the main effects, certain first-order interactions were also significantly associated with familial breast cancer. Our results favor a possible risk modification by estrogen metabolizing gene polymorphisms in familial breast cancer susceptibility.