Can the BRCA1 gene be passed down through generations?

Question

Hello doctor,

I am 37 and recently had cancer genome testing that found a BRCA1 mutation. I have not had kids yet, and I am unsure if I should freeze eggs, do IVF with PGD, or just move fast on pregnancy. I am also scared of passing this gene on. Would removing my ovaries after pregnancy be the best choice? Should I be seeing a genetic OB or reproductive oncologist now?

Please help.

Thank you.

Answer 1

Hello,

Welcome to icliniq.com.

I can understand your concern.

Cancer risk assessment with BRCA1 (breast cancer gene 1) mutation-

Breast cancer - 60 to 70 % lifetime risk (12 % general population).
Ovarian cancer - 40 to 50 % lifetime risk (1 to 2 % general population).
Other risks: Pancreatic and melanoma (modest increase).

Enroll in a breast cancer screening clinic-

Genetic Testing and Counseling for first-degree relatives.
Discuss implications for the family (autosomal dominant inheritance, 50 % transmission risk).

Breast cancer surveillance (starting at age 25)-

Annual breast MRI (magnetic resonance imaging) (preferred; higher sensitivity in BRCA1 carriers).
Mammogram with ultrasound (consider starting at age 30, or earlier if MRI unavailable).
Clinical breast exams every six to 12 months.
Self-breast awareness. Encourage prompt reporting of changes.

Risk-reducing strategies-

Lifestyle modifications.
Exercise, avoid smoking, and limit alcohol.
Consider breastfeeding (lowers breast cancer risk).
Chemoprevention.
Tamoxifen or aromatase inhibitors (off-label for BRCA1; more evidence for BRCA2).
Limited benefit in BRCA1 (most tumors are ER (estrogen receptor) negative).

Surgical options-

Bilateral mastectomy (90 to 95 % risk reduction; discuss timing, reconstruction).
Bilateral salpingo-oophorectomy (BSO) (recommended at 35 to 40 years after childbearing; reduces ovarian cancer risk by 80 to 90 % and breast cancer risk by 50 %).

Ovarian cancer surveillance (limited efficacy)-

Transvaginal ultrasound and CA-125 every six months (starting at age 30 to 35).
Reproductive and hormonal considerations.
Family planning.
Discuss fertility preservation (egg or embryo freezing) before BSO (bilateral salpingo-oophorectomy).
Preimplantation genetic testing (PGT) for embryos, if desired.
HRT (hormone replacement therapy) after BSO.
Short-term estrogen-only HRT (until age ~50) is safe if there is no prior breast cancer.

I hope this helps.

Kindly follow up if you have more concerns.

Thank you.