Breast cancer
Breast cancer is a cancer that develops from breast . Signs of breast cancer may include: a lump in the breast, a change in breast shape, dimpling of the skin, milk rejection, fluid coming from the nipple, a newly inverted nipple, or a red or scaly patch of skin. In those with distant spread of the disease, there may be bone pain, swollen lymph nodes, shortness of breath, or yellow skin.
Underlined words are explained — tap any of them.
Symptoms — what it feels like
- ·A lump in a breast, a change in breast shape, dimpling of the skin, fluid from the nipple, a newly inverted nipple, a red scaly patch of skin on the breast
Treatment
- ·, therapy, , hormonal therapy, targeted therapy
A European-trained for breast cancer flags 17.3% of Bengali people as high-risk - vs the 10% it was designed for. That's a 1.7x mis-stratification: the score's 'average' is set to European , so it systematically mis-reads South Asians (a +0.35 SD mean shift).
A study that would help: Recalibrate PGS000047 on an Indian (define the threshold on South-Asian, not European, risk) and quantify how many people get correctly re-classified. A concrete, fundable validation study once a genotyped+phenotyped Indian sample is in hand.
India-specific BRCA mutations that Western test panels can miss — in the country's most common women's cancer
In Indian breast/ cancer cohorts, roughly 30% carry a BRCA1/2 , and several recurrent appear that are specific to South Asian populations (for example BRCA1 c.5098delC, BRCA2 c.682-2A>G). The well-known Ashkenazi 187delAG also turns up in Indian families.
Breast cancer is now the most common cancer in Indian women, and it strikes younger than in the West. testing built around Western or Ashkenazi panels can under-detect India-specific recurrent — missing exactly the families who would benefit most from and prevention.
A growing list of India-recurrent BRCA exists in the literature but is not consolidated into a validated India-first panel, and population frequencies for many remain thin.
Assemble the recurrent South-Asian BRCA1/2 into a low-cost India-first panel and validate its detection rate against full-gene sequencing — a cheaper test tuned to Indian .
- Spectrum of germline BRCA mutations in hereditary breast cancer, India, Cancer Research Statistics & Treatment 2020 ↗
- Mutational landscape of Indian hereditary breast & ovarian cancer cohort, 2021 ↗
- D2I2 rare-pathogenic South-Asian scan (BRCA1/2, TP53, MLH1, MSH2)