Neoplasms
Malignant neoplasms
Autosomal dominant -Multifactorial
17q21.31
A genetic condition characterized by hereditary susceptibility to breast and/or ovarian cancer. It can be defined using family history criteria, or through identification of germline pathogenic variants (GPVs) in clinically validated HBOC genes. However, the genetic basis of about half of clinical HBOC is currently unknown or unexplained by single-gene variants, and approximately half of individuals who harbour PVs in HBOC genes do not have a suggestive family history. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 604370.1 | Yemen | Female | Ovarian neoplasm Ovarian neoplasm  | NM_007294.4:c.1140dup | Al-Ali et al. 2023 | |||||
| 604370.2 | Egypt | Female | Breast carcinoma Breast carcinoma | NM_007294.4:c.1224del | Al-Ali et al. 2023 | |||||
| 604370.3 | United Arab Emirates | Female | Breast carcinoma Breast carcinoma | NM_007294.4:c.3228_3229del | Al-Ali et al. 2023 | |||||
| 604370.4 | United Arab Emirates | Female | Yes | Breast carcinoma Breast carcinoma | NM_007294.4:c.4065_4068del | Al-Ali et al. 2023 | ||||
| 604370.5 | United Arab Emirates | Female | Yes | Ovarian neoplasm Ovarian neoplasm | NM_007294.4:c.4065_4068del | Al-Ali et al. 2023 | ||||
| 604370.6 | United Arab Emirates | Female | Yes | Ovarian neoplasm Ovarian neoplasm | NM_007294.4:c.4065_4068del | Al-Ali et al. 2023 | ||||
| 604370.7 | United Arab Emirates | Female | Yes | Breast carcinoma Breast carcinoma | NM_007294.4:c.1250A>G | Al-Ali et al. 2023 | ||||
| 604370.8 | United Arab Emirates | Female | No | Breast carcinoma Breast carcinoma | NM_007294.4:c.5260G>C | Al-Ali et al. 2023 |