The study of hereditary cancer, which accounts for~10% of cancer cases worldwide is an important subfield of oncology. Our understanding of hereditary cancers has greatly advanced with recent advances in sequencing technology, but as with any genetic trait, gene frequencies of cancer-associated mutations vary across populations, and most studies that have located hereditary cancer genes have been conducted on European or Asian populations. There is an urgent need to trace hereditary cancer genes across the Arab world. Hereditary disease is particularly prevalent among members of consanguineous populations, and consanguineous marriages are particularly common in the Arab world. There are also cultural and educational idiosyncrasies that differentiate Arab populations from other more thoroughly studied groups with respect to cancer awareness and treatment. Therefore, a review of the literature on hereditary cancers in this understudied population was undertaken. We report that BRCA mutations are not as prevalent among Arab breast cancer patients as they are among other ethnic groups, and therefore, other genes may play a more important role. A wide variety of germline inherited mutations that are associated with cancer are discussed, with particular attention to breast, ovarian, colorectal, prostate, and brain cancers. Finally, we describe the state of the profession of familial cancer genetic counselling in the Arab world, and the clinics and societies dedicated to its advances. We describe the complexities of genetic counselling that are specific to the Arab world. Understanding hereditary cancer is heavily dependent on understanding population-specific variations in cancer-associated gene frequencies.

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.

Background: Couples who are at risk of having an infant with a serious genetic disorder can benefit from pre-implantation genetic diagnosis (PGD), but many couples still opt for the riskier pre-natal diagnosis (PND). Although couples make this decision together, the male and the female in the couple may have different attitudes toward choosing PGD versus PND. The objective of this study was to determine if men and women in the same couple with at least one child with a genetic disorder will have significantly different attitudes toward choosing PGD versus PND Methodology: In this cross-sectional clinical study, couples with at least one child with a genetic disease attending the King Faisal Specialist Hospital Research Center, Genetic Counseling Clinic, Riyadh, Saudi Arabia were asked to complete an anonymous survey about their attitudes toward PGD versus PND. The responses were compared between men and women in couples. The study was conducted during May 2017. Results: A total of 38 couples provided complete surveys. In terms of preference for PGD versus PND, there were no significant differences in aggregate between men and women (p > 0.05). Over half the couples agreed (were concordant) on all the statements about PGD versus PND. An almost equal number of couples with members who disagreed (were discordant) had women preferring PND versus. men preferring PND compared to PGD. Conclusion: This study showed that the members of couples sampled were generally in agreement about their preference for PGD versus PND. Among discordant couples, there was no preference among women for PGD versus PND. Studies like this are important to help clinicians understand intra-couple dynamics in genetic counseling.

Background: The World Health Organization confirmed in January 2020 that SARS-CoV-2 has become a pandemic infection. The first case in Saudi Arabia was reported on March 2, 2020. The Saudi Ministry of Health has authorized the use of anti-SARS-CoV-2 immunoglobulin M/immunoglobulin G (IgM/IgG) antibody testing, but serological test evaluations are still ongoing. Methods: The primary study aim was to determine whether living on a government institution campus, thus limiting contact with the general public, protects against SARS-CoV-2 infection. A study population of 763 employees of the King Abdulaziz City for Science and Technology (KACST) in Saudi Arabia and their family members were asked about their age, nationality, residency on or off the KACST campus, chronic conditions, previous COVID-19 symptoms, exposure to infected individuals, and COVID-19 PCR test results. After informed consent was obtained, the VivaDiagTM COVID-19 IgM/IgG Rapid Test was administered. Statistical analysis was conducted of Pearson correlation coefficients for, and generalized linear regression model fitting for predictive ability of, several independent variables versus IgG status. Results: While the study population was skewed towards male, Saudi nationality, and younger individuals, the age distribution was similar between on-campus residents and off-campus residents. Of the 763 study individuals 91.1% were non-campus residents and 8.9% were campus residents. Discussion: As expected, being IgG+ strongly positively correlated with having the COVID-19 symptom of loss of smell (r = 0.417052483). On-campus residency weakly or somewhat correlated with being IgG positive (IgG+; r = 0.187990064) or IgM positive (IgM+; r= 0.242302626), indicating that residing on campus actually increased the risk of SARS-CoV-2 infection. Consistent with this, residency status was highly statistically significantly predictive (p = 0.00002) of IgG status, second only to contact with a COVID19 infected individual (p = 0.00000), and living on campus increased the likelihood of being IgG+. Blood type (p = 0.01069), loss of sense of smell (p = 0.01079); hypertension (p = 0.01871), nationality (p = 0.02324), and PCR test status (p = 0.04243) also statistically significantly predicted IgG status.Conclusions: Contrary to the hypothesis, living on campus actually increased the risk of testing positive for IgG antibodies against SARS-CoV-2 infection.