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 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, , therapy, targeted therapy
Who a European-built risk score flags as “high-risk”
The score (PGS000047) was tuned so 10% of Europeanscross the “high-risk” line (the dashed mark). Bars reaching past it are over-flagged; bars well short are under-flagged — either way the ruler is mis-set for that group.
Share above the European top-10% cutoff. The All-India row is computed on GenomeIndia (≈10,000 genomes); the per-subpopulation rows on 1000 Genomes. Analytical mean-shift, not validated against Indian outcomes. See methods.
The sections below are general education drawn from public guidelines (NHS, Mayo, CPIC, WHO, ICMR). They are not individually reviewed by a clinician and are not medical advice — always talk to a doctor about your own health.
When to see a doctor
See a doctor if you find a new lump or thickening in a breast or armpit, a change in breast size or shape, skin dimpling or puckering, nipple changes or discharge, or lasting pain in one spot. Most breast changes are not cancer, but any new change should be checked.
Get prompt care for a rapidly growing lump, a breast that is red, swollen, and hot, or a bloodstained nipple discharge. If breast or ovarian cancer runs strongly in your family, ask about genetic counselling.
General guidance, not a diagnosis. When in doubt, see a doctor.
Questions to ask your doctor
- ?Which tests, like an examination, ultrasound, or mammogram, do I need?
- ?Given my family history, am I at higher risk, and should I be screened earlier?
- ?How do I check my own breasts properly?
- ?Which changes should send me back to you quickly?
- ?Should I consider genetic counselling?
- ?How often should I be screened?
What to note before your visit
- ·when you first noticed the change and if it is growing
- ·where in the breast or armpit it is
- ·family history of breast or ovarian cancer
- ·any nipple or skin changes
Genes that change how certain drugs work — and that differ in South Asians. This is education, not a dosing tool; genotype-guided prescribing is a clinician decision.
5-FU and capecitabine are powerful cancer drugs your body normally breaks down quickly with the DPD . People born with a weak version can't clear the drug, so a standard dose becomes a poisoning - which is why a doctor may lower the dose or choose another plan.
South Asian signal: The classic European risk variant DPYD*2A (c.1905+1G>A, rs3918290) is markedly rarer in Indians (~0.05% allele frequency) than in Europeans (~0.3-0.5%), so a European-only variant panel will miss most at-risk Indian patients; population-specific and broader DPYD variant coverage is needed. South Asian populations may carry different or under-catalogued DPYD variants, and DPD-deficiency phenotype testing remains relevant.
Prescriber note: Where DPYD testing is used before fluoropyrimidine chemotherapy, ensure the panel is not limited to European variants (DPYD*2A is rare in Indians); consider broader genotyping and/or phenotype (DPD activity) assessment, and reduce or avoid dosing per the DPYD activity score. CPIC recommends reducing the fluoropyrimidine starting dose (guided by DPYD activity score) for DPYD intermediate metabolisers and avoiding fluoropyrimidines in poor metabolisers, because reduced DPD activity sharply raises the risk of severe or fatal toxicity.
Not a dosing tool. Genotype-guided prescribing is a clinician decision; genotyping access in India is limited.
Test yourself
0/4 answered4 quick questions on Breast cancer. Tap an answer to check it.
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 : the score's 'average' is set to European , so it systematically mis-reads South Asians (a +0.35 SD ).
A study that would help: PGS000047 on an Indian (define the threshold on South-Asian, not European, risk) and quantify how many people get correctly . A concrete, fundable validation study once a + 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 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)