Category Archives: BRCA2

Is there a difference between BRCA 1 and BRCA 2?

BRCA are breast cancer genes

When working properly these are tumor supressors.  They protect against breast cancer.

But when they are abnormal and genetically inherited – these are called the BRCA1 and BRCA2 genetic mutations.

Both BRCA mutations (1 and 2) increase risk of breast cancer

Normally women have a 12 % lifetime risk of developing breast cancer.  Having a BRCA mutation raises the risk to 50-85% with a high likelihood for a recurrence or a second tumor. Risk is the same for BRCA1 or BRCA2

The differences are the risks of associated other cancers.

Both have the increased risk of ovarian and pancreatic cancers

BRCA1 mutations may have additional risk of these cancers

  • cervical
  • uterine
  • pancreatic
  • colon cancer

BRCA2 mutations may have additional risk of these cancers

  • pancreatic
  • stomach
  • gallbladder
  • bile duct
  • melanoma

Future research will discover more differences between BRCA1 and BRCA2.

More info about BRCA mutations and Angelina Jolie


Gynecomastia of the male breast

  • Gynecomastia is the benign hypertrophy of the male breast
  • asymptomatic or painful
  • unilateral or bilateral
  • just below the areolar region

Age distribution

3 peaks

  • transiently during neonatal period due to motherly estrogrens
  • puberty
  • adulthood

Causes of Gynecomastia

  • Illicit drug use, especially marijuana
  • Renal, Liver disease
  • Neoplasms
  • Hyperparathyroidism

Gynecomastia’s association with cancer

  • Testicular cancer
  • BRCA2 genetic multation may lead to male breast cancer

Diagnostics for Gynecomastia

For the older patient with no obvious etiology consider:

  • LFT
  • BUN
  • Creatinine
  • Thyroid hormone
  • Prolactin level
  • Testosterone
  • Bilateral mammorgram
  • FNA (fine needle aspiration) can be diagnostic or core needle biopsy, usually not a need for excisional biopsy.  Thus an excisional biopsy wouldn’t be a first line diagnostic tool in gynecomastia.