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Related Subjects: | Assessment of the Causes of Breast Tenderness/Pain (Mastalgia) | BRCA Genes (Familial Breast Cancer) | Breast Anatomy and Examination (OSCE) | Breast Cancer | Benign Breast Disease | Malignant Breast Disease | Breast Lumps: Clinical Approach | Mastitis and Breast Abscess | Malignant Breast Disease
๐ฉบ Big picture: Most breast presentations in primary care are benign - but the job is to spot cancer early, refer appropriately, and ensure every patient gets triple assessment when indicated. ๐ Think in 3 buckets: anatomy (what could this be?), risk (who is higher risk?), and pathway (who needs urgent breast clinic?).
Why lymph matters: It explains why breast cancer can present with an axillary lump, why staging depends heavily on nodes, and why โbreast-normalโ exam does not exclude malignancy.
BRCA1 and BRCA2 are key genes that significantly increase the risk of breast and ovarian cancers and account for ~5% of all breast cancers.
| TABLE 2.1 - Genetic Risk Factors for Breast and Ovarian Cancer | Breast Cancer Risk | Ovarian Cancer Risk |
|---|---|---|
| Baseline | 12% | 1.3% |
| BRCA1 | 72% | 44% |
| BRCA2 | 69% | 17% |
๐ง Exam pearl: Only a minority of cancers are strongly hereditary, but a high-risk pedigree changes screening and referral thresholds - never ignore it.
Genetic testing should be carried out if there is:
๐ Safety-first principle: If you find an unexplained lump (breast or axilla), or skin/nipple changes suspicious of cancer, refer to a one-stop breast clinic for triple assessment.
Teaching pearl: Age cut-offs are guidelines, not permission to dismiss. If something is clearly suspicious clinically, escalate.
All patients requiring further investigation after screening or GP review are assessed in a one-stop breast clinic (see Fig 2.2). A triple assessment guides diagnosis and management:
FIG 2.2 One-stop Breast Clinic. MDT, Multidisciplinary team; USS, ultrasound scan. Illustrated by Dr Hannah Punter.
| TABLE 2.2 - Investigations in a One-stop Breast Clinic | Description | Buzzwords for Concerning Features ๐ฉ |
|---|---|---|
| Examination | Inspection and palpation of both breasts and axillary lymph nodes. | Fixed lump; craggy/rubbery lymph node; peau dโorange; skin dimpling; nipple retraction |
| Ultrasound scan (USS) | High-frequency sound waves; helpful in highly glandular tissue (often <40 years). | Alternate hypo-/hyperechogenic lines; deep lesion; incompressible |
| Mammogram | Two-view X-rays of the breasts; interpretation can be harder in dense/glandular breasts. | Calcifications; mass; asymmetry; distortion of underlying tissue |
| Fine-needle aspiration cytology (FNAC) | Needle inserted into a lesion (often image-guided) for cytology. | Malignant cells on FNAC (C5) |
| Core biopsy |
Tissue samples sent to histology; grading + immunohistochemistry:
|
Loss of basement membrane; dysplasia; poorly differentiated; triple negative (ER/PR/HER2 negative); Grade 1โ3; invasive ductal/lobular/papillary/medullary carcinoma |
๐ง Why triple assessment matters: Breast malignancy is a clinic + imaging + pathology diagnosis. A reassuring exam does not โrule outโ cancer, and imaging alone cannot finalise management without tissue in most suspicious cases.
Following triple assessment, a score is given based on:
| TABLE 2.3 - Scoring of the Triple Assessment | Description |
|---|---|
| 1 | Normal |
| 2 | Benign |
| 3 | Suspicious, likely benign |
| 4 | Suspicious, likely malignancy |
| 5 | Malignancy |
Example: A P4, M4, B5 score means the mass looked suspicious/likely malignant clinically and on mammography, with histology confirming malignancy.