Investigating the prevalence of pathogenic variants in Saudi Arabian patients with familial cancer using a multigene next generation sequencing panel.

Family history is an important factor in determining hereditary cancer risk for many cancer types. The emergence of next-generation sequencing (NGS) has expedited the discovery of many hereditary cancer susceptibility genes and the development of rapid, affordable testing kits. Here, a 30-gene targeted NGS panel for hereditary cancer risk assessment was tested and validated in a Saudi Arabian population. A total of 310 subjects were screened, including 57 non-cancer patients, 110 index patients with cancer and 143 of the cancer patients' family members, 16 of which also had cancer. Of the 310 subjects, 119 (38.4%) were carriers of pathogenic or likely pathogenic variants (PVs) affecting one or more of the following genes: TP53, ATM, CHEK2, CDH1, CDKN2A, BRCA1, BRCA2, PALB2, BRIP1, RAD51D, APC, MLH1, MSH2, MSH6, PMS2, PTEN, NBN/NBS1 and MUTYH. Among 126 patients and relatives with a history of cancer, 49 (38.9%) were carriers of PVs or likely PVs. Two variants in particular were significantly associated with the occurrence of a specific cancer in this population (APC c.3920T>A - colorectal cancer/Lynch syndrome (p = 0.026); TP53 c.868C>T; - multiple colon polyposis (p = 0.048)). Diverse variants in BRCA2, the majority of which have not previously been reported as pathogenic, were found at higher frequency in those with a history of cancer than in the general patient population. There was a higher background prevalence of genetic variants linked to familial cancers in this cohort than expected based on prevalence in other populations.

Impact of inpatient rehabilitation services on the functional levels of cancer patients at King Fahad Medical City, Riyadh, Saudi Arabia.

OBJECTIVES: To identify the impact of inpatient rehabilitation services on the functional levels of cancer patients. Methods: This was a retrospective study of data from the Rehabilitation Hospital, King Fahad Medical City, Riyadh, Saudi Arabia, from 2012 to 2018. The functional independence measure (FIM) tool was used to assess functional changes from admission to discharge to determine the impact of inpatient rehabilitation. Results: A total of 81 eligible records were reviewed. The median hospital length of stay (LOS) was 50 days, mean±SD of the FIM gain was 25 (15.3), and 91.4% were discharged home, while only 4.9% were readmitted. Although statistically significant gains were observed in both motor and cognitive scores, motor scores improved more than the cognitive. The LOS was less (30 days) in patients requiring minimal assistance, at the time of admission, compared to the LOS in patients with moderate and low levels of independence. The level of significance was set at p≤0.05. CONCLUSIONS: In patient cancer rehabilitation service demonstrated statistically significant functional gains during rehabilitation at King Fahad Medical City. This study may help the policymakers to provide similar rehabilitation services to all cancer patients as well as in other health care hospitals to improve the functional status of cancer survivors.