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BRCA1 c.2845insA is a founder mutation in Singaporean Malay women with early onset breast/ovarian cancer

Sng JH, Ali AB, Lee SC, Zahar D, Wong JE, Cross G, et al.

Ann Acad Med Singap, 2003 Sep;32(5 Suppl):S53-5.
PMID: 14968737
Matched MeSH terms: Ovarian Neoplasms/ethnology
Fulltext Pattern of ovarian tumours among Malaysian women at General Hospital, Kuala Lumpur

Thanikasalam K, Ho CM, Adeed N, Shahidan MN, Azizah WK

Med J Malaysia, 1992 Jun;47(2):139-46.
PMID: 1337368

The objective of this two year retrospective study is to find out the pattern of ovarian tumours among Malaysian women. A total of 280 cases were reviewed. Of these 193 were benign, 81 were malignant and six cases belonged to borderline malignancy. In the general population, equal distribution of serous and mucinous tumours among the benign (15.4%) and malignant (4.3%) types is quite a striking feature. The teratomas were the commonest benign tumour among the Malays and Chinese. Serous cystadenomas were the commonest among the Indians. The Malays had higher incidence of malignant epithelial tumours whereas the Chinese had a higher incidence of metastatic and germ cell tumours. Endometroid tumours occurred from an earlier age of thirty years. There was a preponderance of mucinous tumours among the borderline variety.

Matched MeSH terms: Ovarian Neoplasms/ethnology
BRCA1 c.2845insA is a recurring mutation with a founder effect in Singapore Malay women with early onset breast/ovarian cancer

Sng JH, Ali AB, Lee SC, Zahar D, Wong JE, Blake V, et al.

J Med Genet, 2003 Oct;40(10):e117.
PMID: 14569140
Matched MeSH terms: Ovarian Neoplasms/ethnology
Large BRCA1 and BRCA2 genomic rearrangements in Malaysian high risk breast-ovarian cancer families

Kang P, Mariapun S, Phuah SY, Lim LS, Liu J, Yoon SY, et al.

Breast Cancer Res Treat, 2010 Nov;124(2):579-84.
PMID: 20617377 DOI: 10.1007/s10549-010-1018-5

Early studies of genetic predisposition due to the BRCA1 and BRCA2 genes have focused largely on sequence alterations, but it has now emerged that 4-28% of inherited mutations in the BRCA genes may be due to large genomic rearrangements of these genes. However, to date, there have been relatively few studies of large genomic rearrangements in Asian populations. We have conducted a full sequencing and large genomic rearrangement analysis (using Multiplex Ligation-dependent Probe Amplification, MLPA) of 324 breast cancer patients who were selected from a multi-ethnic hospital-based cohort on the basis of age of onset of breast cancer and/or family history. Three unrelated individuals were found to have large genomic rearrangements: 2 in BRCA1 and 1 in BRCA2, which accounts for 2/24 (8%) of the total mutations detected in BRCA1 and 1/23 (4%) of the mutations in BRCA2 detected in this cohort. Notably, the family history of the individuals with these mutations is largely unremarkable suggesting that family history alone is a poor predictor of mutation status in Asian families. In conclusion, this study in a multi-ethnic (Malay, Chinese, Indian) cohort suggests that large genomic rearrangements are present at a low frequency but should nonetheless be included in the routine testing for BRCA1 and BRCA2.

Matched MeSH terms: Ovarian Neoplasms/ethnology
Dermatoglyphic patterns on fingers and gynecological cancers

Abbasi S, Rasouli M

Eur J Obstet Gynecol Reprod Biol, 2018 Mar;222:39-44.
PMID: 29353131 DOI: 10.1016/j.ejogrb.2017.10.020

OBJECTIVES: Fingerprints have so far been used for determining the basis of certain malignant diseases, with positive outcomes. Considering the high rates of cancer-related mortality in Iran, this study was conducted for the purpose of examining the dermatoglyphic pattern of fingers in patients with gynecological cancers as compared to healthy people.
STUDY DESIGN: The present study was conducted on 151 women with gynecological cancers as the case group and 152 healthy women with no history of such cancers as control group. The dematographic details of participants from both control and case groups were collected using a checklist, and the pattern of their fingerprints was prepared and examined. The data were analyzed for their significance using chi-square test and t- test. Odds ratio with 95% confidence intervals were calculated.
RESULTS: Dermatoglyphic analysis showed that arch and loop patterns significantly changed in cases group as compared to control. However, the odds ratio suggested that loop pattern in 6 or more fingers might be a risk factor for developing gynecological cancers.
CONCLUSION: Our results showed that there is an association between fingerprint patterns and gynecological cancers and so, dermatoglyphic analysis may aid in the early diagnosis of these cancers.

Matched MeSH terms: Ovarian Neoplasms/ethnology