Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants.

Cancer is a multifactorial, multi-step process of pathogenesis; however, in the case of familial cancers, genetic aetiology can play a significant role. Identifying genetic variants in cancer patients having a strong family history of cancer as well as their unaffected blood relatives can unravel their role in predisposition to cancer. Here, we report the findings of whole-exome sequencing in a patient (77/F) diagnosed with ovarian cancer and her daughters (61/F) and (59/F) who were diagnosed with breast and ovarian cancers along with her asymptomatic son (53/M).

Total Elbow Arthroplasty in Young Patients - An 8-Year Follow-up Case Series.

Introduction: Certain elbow pathologies can give rise to considerable loss of joint function, which would severely affect the daily living activities of the patients. Total elbow arthroplasty (TEA) can be a safe and reasonable motion-preserving and pain-relieving option in such debilitating elbow conditions. The aim of this case series is to evaluate the functional outcome of TEA in young patients with four different indications after an 8-year follow-up.

The natural history of untreated estrogen receptor-positive, Her2-negative invasive breast cancer.

Background: Using prior mammograms from patients with delays in their breast cancer diagnoses, we sought to describe in-vivo growth kinetics of untreated breast cancer to determine if the time they became clinically apparent can be predicted.

Methods: Patient and tumor characteristics were collected from those who presented with "missed," untreated breast cancer to a breast center in a single institution. Only patients whose biopsied masses revealed estrogen receptor-positive, Her2-negative (ER+/Her2-) invasive cancers were included.

Novel mutation in gene in a family diagnosed with 3M syndrome.

This study evaluates a family with two siblings having severe growth retardation and facial dysmorphism, born to consanguineous normal healthy parents. Affymetrix CytoScan 750K microarray showed a 34-Mb pericentric homozygous region on chromosome 6 for both siblings. was one of the 141 genes present in this region.

Cancer early detection program based on awareness and clinical breast examination: Interim results from an urban community in Mumbai, India.

Indian women with breast cancer are usually diagnosed in advanced stages leading to poor survival. Improving breast awareness and increasing access to early diagnosis and adequate treatment has been advocated for breast cancer control. We implemented a program to increase awareness on breast cancer and access to its early detection in an occupational health care scheme in Mumbai, India.