Hereditary breast cancer

This article deals with hereditary breast cancer.

Familial breast cancer redirects to this article.

Syndromes associated with breast cancer

Gene	Syndrome	Cancers	Notes
BRCA1	Familial breast and ovarian cancer	breast, male breast, ovarian, prostate, pancreas, fallopian tube	younger individuals vis-à-vis BRCA2
BRCA2	Familial breast and ovarian cancer 2	breast, male breast, ovarian, prostate, pancreas, stomach, melanoma, gallbladder, bile duct, pharynx	older individuals vis-à-vis BRCA1
TP53 (p53)	Li-Fraumeni syndrome (AKA SBLA syndrome)	sarcomas, brain, larynx, lung, leukemia, adrenal, breast	often present in childhood
CHEK2	Li-Fraumeni syndrome (variant)	see p53	-
STK11	Peutz-Jeghers syndrome	breast, gastrointestinal, Sertoli cell tumour, granulosa cell tumour, SCTAT	characteristic GI hamartomas, mucocutaneous pigmentation
PTEN	Cowden syndrome	breast, thyroid (PTC), endometrial, renal, colorectal	-
CDH1	Familial diffuse gastric cancer	invasive lobular carcinoma, gastric signet ring cell carcinoma	-

BRCA1 and BRCA2

BRCA1 vs. BRCA2:

Gene	Age	Histology	Other cancers
BRCA1	younger	worse types, e.g. triple negative breast ca.	uterine tube
BRCA2	older	sporadic types	stomach, melanoma, gallbladder, bile duct, pharynx

Types of cancer associated with both BRCA1 and BRCA2 - male OPP:

• Male breast, ovarian, prostate, pancreas.

How to remember types of cancer associated with BRCA2 - PUM:

• Pharynx, upper GI (stomach, gallbladder, biliary), melanoma.

Other mutations

• BARD1 mutations.

See also

• Breast cancer.
• Hereditary diffuse gastric cancer.
• Serous tubal intraepithelial carcinoma.