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JAMA Netw Open: Carrying status of carcinogenic variants in breast and ovarian cancer patients

 Last Update: 2021-03-20
 Source: Internet
 Author: User

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The incidence of breast and ovarian cancer is high in the Caribbean ; however, so far, there is very little data to quantify the prevalence of hereditary cancers in the population of the region.

Breast cancer ovarian cancer

This study aims to determine whether harmful mutations in genes related to hereditary breast and ovarian cancer syndromes are related to the occurrence of breast and ovarian cancer in English- and Creole-speaking Caribbean populations.

This study used data from germline genetic testing in the Bahamas, Cayman Islands, Barbados, Dominica, Jamaica, Haiti and Trinidad and Tobago from June 2010 to June 2018.

A total of 1018 subjects were enrolled, of which 999 (98.

Distribution of pathogenic/probably pathogenic variants in different countries

A total of 144 (14.

The proportions of patients with BRCA1, BRCA2, PALB2, RAD51C, CHEK2, ATM, STK11 and NBN gene P/LP variants were 64%, 23%, 9%, and 4%, respectively.

Patient characteristics with or without variants

The mean age (SD) of variant carriers was 40.

Characteristics of patients with different variants

Among women and men born with breast cancer in the Caribbean, breast cancer in first- or second-degree family members is associated with any BRCA1 or BRCA2 germline variant (odds ratio 1.

Among women and men born in the Caribbean with breast cancer, a first- or second-degree family member with breast cancer is related to any BRCA1 or BRCA2 germline variants

All in all, this study shows that 1 in 7 breast and ovarian cancer patients born in the Caribbean have hereditary breast/ovarian cancer.

Among breast and ovarian cancer patients born in the Caribbean, 1 in 7 people has hereditary breast/ovarian cancer.

Original source:

George Sophia HL, Donenberg Talia, Alexis Cheryl et al.

com/journals/jamanetworkopen/fullarticle/2776805" target="_blank" rel="noopener">Among Variants Sequencing for Pathogenic Gene Adults With Breast and Ovarian Cancer in The Caribbean JAMA in this message

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