Muta­tion in the breast can­cer sus­cep­ti­bil­ity genes (BRCA1 and 2) increases the life­time risk for early breast and ovar­ian can­cers. Women are com­monly approached by physi­cians to be tested (a blood test) if they fit cer­tain cri­te­ria that are asso­ci­ated with increased risk for find­ing these muta­tions. Actu­ally there are now two soft­ware pack­ages that allow indi­vid­u­als to cal­cu­late their prob­a­bil­ity of car­ry­ing a muta­tion and sub­se­quently make deci­sions about test­ing. Atti­tudes towards test­ing and risk reduc­ing pro­ce­dures vary widely even among women in the same fam­ily (see for exam­ple this case study from The New York Times)

Young women car­ry­ing these muta­tions face sev­eral issues:                      Repro­duc­tive health issues

1. When should I get preg­nant ? The exact impact of preg­nancy and child-bearing on breast can­cer risk in BRCA muta­tion car­ri­ers is not totally clear and may be dif­fer­ent for BRCA 1 muta­tion car­ri­ers than for BRCA 2 muta­tion car­ri­ers in an age relater manner.

2. Are my chances for get­ting preg­nant reduced due to these muta­tions ? Likely no. In spite of anec­do­tal sug­ges­tions that ovar­ian reserve (num­ber of eggs in the ovaries) maybe dimin­ished, this is not proven. In fact when women car­ry­ing BRCA muta­tions were com­pared to rel­a­tives  who do not car­ry­ing these muta­tions, there were no dif­fer­ences in the num­ber of deliv­er­ies and the need for fer­til­ity treat­ment.

3. Can I use oral con­tra­cep­tive pills ? The use of OCPs reduces the risk of ovar­ian can­cer in muta­tion car­ri­ers. Risk of breast can­cer may be increased in BRCA1 car­ri­ers using the pill for long period of time.

Psy­cho­log­i­cal issues related to risk-reducing procedures

Risk reduc­ing bilat­eral salping-oophorectomy and bilat­eral mas­tec­tomy are com­monly offered to reduce the risk of can­cer in the future. Sur­gi­cal removal of both ovaries and / or both breasts reduces but does not elim­i­nate the risk (resid­ual risk 10%). Some women report impaired body image and reduced sex­ual sat­is­fac­tion after the procedure(s).

Future Fer­til­ity in women car­ry­ing muta­tions in BRCA1 and BRCA2 genes

1. Young women car­ry­ing BRCA muta­tions  and not diag­nosed with can­cer are encour­aged to attempt preg­nancy as early as pos­si­ble. If an unre­lated fer­til­ity prob­lem arises, they are encour­aged to seek con­sul­ta­tion from a repro­duc­tive endocri­nol­o­gist.

2. Young women car­ry­ing BRCA muta­tions and diag­nosed with breast can pre­serve their fer­til­ity through ovar­ian sim­u­la­tion and embryo or egg freez­ing.

3. Young women car­ry­ing BRCA muta­tions and elected to undergo risk-reducing removal of both ovaries should con­sider the fol­low­ing options (a or a and b) a. Ovar­ian stim­u­la­tion fol­lowed by embryo or egg freez­ing and b. Ovar­ian tis­sue freez­ing (exper­i­men­tal). Since both ovaries will be removed it is rea­son­able to attempt to freeze ovar­ian tis­sue for future use. Future use means trans­plan­ta­tion of ovar­ian tis­sue out­side the abdomen (under the skin) fol­lowed by stim­u­la­tion and egg retrieval. The tis­sue is then removed after preg­nancy is achieved. Alter­na­tively, if the tech­nol­ogy per­mits in the future, the tis­sue can be cul­tured in the lab and eggs retrieved directly from the tis­sue (not suc­cess­ful in humans so far).

3. Young women inter­ested in get­ting preg­nant should be coun­seled to the risk of trans­mis­sion of muta­tion to future chil­dren. Both men and women car­ry­ing the muta­tion are at a sig­nif­i­cantly increased risk of can­cer. It is very pos­si­ble to pre­vent this trans­mis­sion if the eggs or embryos are tested before replace­ment into the uterus in women under­go­ing in vitro fer­til­iza­tion — IVF Eggs are tested by polar body biopsy (this is a small cell attached to the egg and carry chro­mo­somes rep­re­sen­ta­tive to those of the egg). Embryos are tested by test­ing one cell of a 6 to 8 cell embryo. Test­ing has many med­ical and eth­i­cal dimen­sions and is bet­ter han­dled by providers spe­cial­iz­ing in these area.

Women car­ry­ing BRCA muta­tion can still con­ceive their own chil­dren and pre­vent the trans­mis­sion of BRCA to them. With ade­quate sup­port and guid­ance, this can be achieved even if you decided to remove both ovaries.